Foundations in Molecular Biology and Genetics: Final – Flashcards

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+1 sequence
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The site where transcription begins.
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2-aminopurine (2-AP)
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A base analog. An adenine or guanine analog.
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3' - 5' exonuclease activity
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Cuts DNA strands, starting at the 3' termini. The DNA polymerase goes "backwards". Allows for proofreading.
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5' - 3' exonuclease activity
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Cuts DNA strands, starting at the 5' termini.
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5-bromouracil (5-BU)
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A base analog. A thymine analog that pairs with adenine or guanine, depending on if it is in keto or enol form. If it is in enol form before incorporation, it produces C:G > A:T transitions. If it is in enol form after incorporation, it produces A:T > C:G transitions.
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7-methyl guanosine cap
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5' cap

A 7-methyl guanosine residue joined to the initial nucleotide of the transcript by a 5' - 5' phosphate linkage. Added to the nascent RNA transcript during elongation when it is about 30 nucleotides long. Protects the 5' end from degradation.

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-10 sequence
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A promoter. Part of the Pribnow box. An upstream sequence about 10 nucleotides from the initiation site in E. coli. Its consensus sequence is TATAAT. Facilitates localized unwinding of DNA because it is A:T rich.
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-35 sequence
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Recognition sequence

A promoter. Part of teh Pribnow box. An upstream sequence about 35 nucleotides from the initiation site in E. coli. Its consensus sequence is TTGACA. The sigma subunit binds to this sequence.

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?-amanitin
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An inhibitor of RNA polymerase II. A deadly toxin. Found in death angel mushrooms.
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?-helix
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A secondary structure in proteins. Rigid cylinders in which each peptide bond is hydrogen bonded to the peptide bond three/four amino acids away. Proline cannot be present in ?-helices.
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?-sheet
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A secondary structure in proteins. The polypeptide folds back onto itself, sometimes repeatedly, and the parallel segments are held by hydrogen bonds.
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A-DNA
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Right-handed, compact DNA. Created artificially by exposing DNA to salts.
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Ac/Ds elements
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Cut-and-paste transposons found in maize. Discovered by Barbara McClintock. Cause clear corn kernels to become mosaic brown/purple kernels.
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Acquired immune deficiency syndrome (AIDS)
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A disease caused by HIV virus. Affects tens of millions of people. Loss of ability to fight infections from pathogens, including normally benign organisms.
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Acquired traits
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Traits imposed on an organism by environmental factors. Jean Lamarck and Trofim Lysenko thought that they were inherited, but actually they are not.
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Acridine dyes
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A class of chemical mutagens. Intercalates into DNA, sandwiching between base pairs, increasing the probabilit of mistakes in replication. The DNA molecules are more rigid, and may have kinks. Causes frameshift mutations. Includes 2,8-diamino acdiride (proflavin), and acridine orange.
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Acridine orange
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An acridine dye.
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Activator
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The product of regulator genes in positive control mechanisms. They are needed to turn on expression of one or more structural genes.
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Adenine
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Has a common amino form, and a rare imino form, with the H at C6 rather than C1. If treated with nitrous acid, it changes to hypoxanthine, which pairs with cytosine.
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Alkylating agents
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A class of chemical mutagens. Mutagenic to replicating and non-replicating DNA. Donates alkyl groups (ethyl, methyl, et cetera) to other molecuels, altering base pairing, or activating error-prone DNA repair processes that introduce mutations during repair. Induce all types of mutations, including chromosome aberrations. Includes di-(2-chlorethyl) sulfide (mustard gas), ethyl methane sulfonate (EMS), and ethyl ethan sulfonate (EES).
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Allolactose
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The affector molecule of the lac operon. An inducer. Produced from lactose by ?-galactosidase, the product of lacZ, which has a low background level of expression at all times.
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Allosteric transition
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Conformational change in protein structure due to binding with another molecule.
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Amber mutation
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Named after one of the researchers who discovered them. Nonsense mutations in E. coli that produce stop codons, and result in synthesis of truncated polypeptides. Mutant tRNAs that recognize stops codons as amino acids are suppressor mutations for amber mutations.
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Amino
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The common form of cytosine and adenine.
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Amino acid
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The constituent of polypeptides. Has an amino group, a free carboxyl group, and a side group.
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Aminoacyl site (A)
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The A site on a ribosome. Binds incomping aminoacyl-tRNAs.
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Aminoacyl-tRNA
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tRNA with an amino acid attached by a high-energy bond. Created by aminoacyl-tRNA synthetase.
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Aminoacyl-tRNA synthetase
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Catalyzes the binding of amino acids to the correct tRNA, converting ATP into AMP. There is at least one for each amino acid.
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Anabolic pathways
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Biosynthetic pathways

Often repressible. Repressed in the presence of the molecule they produce.

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Anticipation
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Increased copy number of a trinucleotide repeat with each generation, leading to increased severity or early onset of the disease.
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Antisense strand
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Strands of RNA that are complementary to sense strands. Do not code for polypeptides.
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apo-B
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Genes which regulate apolipoproteins: blood proteins in rabbits and humans which carry fat molecules. The mRNA has a change in structure of bases during RNA editing. This enables the mRNA to produce different products in different parts of the body, to perform different functions.
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ARS elements
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Autonomously Replicating Sequences

Sequences in prokaryote DNA that have their own origin of replication, and replicate independently from the rest of the chromosome. About 50 bp in length, with a conserved core A:T rich 11 bp sequences. Found in Saccharomyces cerevisiae.

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Arthur Kornberg and coworkers
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First demonstrated in vivo DNA replication in 1957, and won the Nobel Prize in 1959.
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Ataxia-telangiectasia
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An inherited disease caused by defects in DNA repair mechanism. Radiation sensitivity, chromosome instability, early onset of progressive neurodegeneration, and prone to cancer. Caused by defects in kinases involved in the control of cell cycle. Caused by mutations in ATM.
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ATM
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A gene on chromosome 11 for serine/threonine kinase. Mutation in this gene can lead to ataxia-telangiectasia.
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AUG
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The initiation sequence in eukaryotes. Codes for tRNAiMet. The ribosome moves down from the 5' end, scanning for this sequence. At all other positions in the mRNA, it codes for tRNAMet.
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Autoradiography
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Detecting radioactive isotopes by exposing the experiment to a photographic emulsion containing silver halides. Black spots form where radioactive isotopes are present.
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Back mutation
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A type of reversion. A second mutation at the same site in the genome. Restores the nucleotide sequence of the gene. If back-crossed to a wild-type individual, all progeny are wild-type.
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Balbiani rings
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Puffs

Sites of localized unwinding due to gene transcription in eukaryotes. Occurs in the polytene chromosomes of Drosophila salivary glands.

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Barbara McClintock
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Studied maize chromosome breakage at University of Missouri 1936 - 1941. Discovered Ac/Ds transposable elements in 1940. Proposed the idea of transposable elements. The concept was not accepted immediately; people thought that DNA was stable, and didn't "jump around". Won the Nobel Prize in 1983.
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Basal transcription factor _ (TFII_)
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Transcription Factor for RNA polymerase II [letter of denotation]

Transcription factors which initiate transcription by RNA polymerase II. Must interact with promoters in the correct sequence to initiate translation. Incldues TFII A, B, D, E, F, and H.

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Base analogs
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A class of chemical mutagens. Mutagenic only to replicating DNA. Have structures similar to normal bases, and are incoroprated into DNA during replication. Increase the frequency of mis-pairing. Includes 5-bromouracil (5-BU), and 2-aminopurine (2-AP).
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Base excision repair
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A form of excision repair. Systems remove abnormal or chemically modified bases from DNA. Initiated by DNA glycosylases that recognize abnormal bases in DNA: each recognizes a specific type of altered base. DNa glycosylase cleaves the glycosidic bond between base and deoxyribose, creating apyrimidine sites (AP sites) with missing bases. AP endonuclease acts with phosphodiesterases to excise sugar-phosphate groups.
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Benno Muller-Hill and coworkers
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Showed that O2 and O3 operators of the lac operators have effects on levels of transcription in the operon.
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Bidirectional replication
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Replication forks travel in opposite directions from the origin of replication. Mario Schnos and Ross Inman provided evidence for this.
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bla
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A gene on a Tn3 element. Codes for beta lactamase enzyme, which produces resistance to ampicillin.
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BLM
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A gene on chromosome 15 for BLM REcQ helicase. Mutation in this gene can cause Bloom syndrome.
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Bloom syndrome
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An inheritance disease caused by defects in DNA repair mechanism. Chromosome instability, mental retardation, and prone to cancer. Increased chromosome aberration. Alterations in specific DNA helicases. Caused by mutation in BLM.
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CAAT box
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An element of a promoter for RNA polymerase II. A conserved element at about -80. The consensus sequence is GGCCAATCT.
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Caenorhabditis elegans
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A eukaryote which has multi-genic mRNAs that contain many genes.
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CAF-1
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Chromatin assembly factor 1. Carries histones to chromosomal sites of nucleosome assembly during DNA replication.
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Catabolic pathways
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Degradative pathways

Usually catalyzed by inducible enzymes. Induced by presence of the molecule they break down.

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Catabolite activator protein (CAP)
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Cyclic AMP receptor protein

A dimer that binds to the CAP/cAMP binding site on the lac operon in the presence of glucose. It has positive control. It bends the DNA, making it easier for RNA polymerase to attach. It binds to loops formed when lac repressor is bound to O1 and O3.

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Catbolite repression
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Glucose effect. In the presenceof glucose CAP prevents induction of the lac (lactose), ara (arabinose), and gal (galactose) operons. Assures that glucose is metabolized in preference to other, less efficient carbohydrates. CAP has positive control of the operons, and cAMp is the effector molecule, present only in the absence of glucose.
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Central Dogma of molecular biology
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First described by Francis Crick.

DNA -(transcription)--> RNA -(translation)--> polypeptides

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Chain termination codon
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UAA, UAG, or UGA

Triggers termination of translation when they enter the A site of the ribosome. Recognize by release factors.

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Chaperones
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Proteins that help some nascent polypeptides fold into their correct formation.
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Charles Yanofsky and colleagues
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First demonstrated evidence for colinearity between genes and polypeptides. Compared the nucleotide sequences of trpA with the amino acid sequence of the polypeptide it codes for in wild-type and mutant E. coli.
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Charlotte Auberach and associates
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Discovered the mutagenic effects of mustard gas. Their research was classified during WWII due to its use as a weapon, and results were not published until after the war.
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Chemical mutagen
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Chemicals which are mutagens. May affect replicating or non-replicating DNA, or replicating DNA only. Includes alkylating agents, base analogs, acridines, deaminating agents, and hydroxylating agents.
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Chromosome remodeling
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Modification of nucleosomes, to interact with proteins and express only genes which need to be expressed. Occurs before transcription.
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ClB chromosome
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An X chromosome in Drosophila which is altered. Examined in the ClB method. Has three characteristics:

C: Crossover suppressor. A long inversion that suppresses recombination between ClB and normal X chromosomes. Causes recombinant progeny to abort.

l: Lethal mutation. Homozygous females and hemizygous males with the ClB chromosome are not viable.

B: Bar-eye phenotype. The eyes are narrowed and bar-shaped. It is partially dominant, so heterozygotes can be identified.

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ClB method
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An accurate method of identifying lethal mutations on the X chromosomes of Drosophila, developed by Hermann J. Muller. Performed with females heterozygous for the ClB chromosome. If there is a recessive lethal mutation on the X chromosome, all progeny from a cross with a normal male will be female.
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Co-repressors
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Effector molecules that cause repression of genes. Cause activators to detach from the RPBS. Cause repressors to attach to the RPBS.
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Cockayne syndrome
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An inherited disease caused by defects in DNA repair mechanisms. UV sensitivity, neurological and developmental disorders, and premature aging. Caused by mutation in CSA or CSB.
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Codon
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A three-nucleotide sequence that specifies an amino acid, according to the genetic code.
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Cointegrate
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A Tn3 element fused to a plasmid. Tn3 is replicated and the cointegrate folds, producing site-specific recombinations at res sites, splitting the cointegrate apart producing two genetic elements with Tn3 genes.
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Composite transposon
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A cut-and-paste transposon found in bacteria. Includes Tn3. Created when two IS elements insert into each other. The region between them can be transposed when the elements act joinly. The flanking IS element may be identical, inverted, or different IS elements.
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Conjucative R plasmids
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Plasmids which transfer genes for antibiotic resistance between bacteria cells. May be rapidly exchanged between bacteria, even across species. Some carry multiple resistance genes. Evolved through IS-mediated recombination events. Cause many bacterial diseases to be difficult to treat for. Includes a resistance transfer factor and R-determinant.
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Consensus sequence
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Sequences which are most often preserved.
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Conservative replication
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A possible method of DNA replication. A completely new DNA molecule is produced. In Meselson and Stahl's experiment, one DNA strand would be heavy density, and the rest would be normal density. There is no evidence to support this.
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Continuous replication
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Occurs on the strand of the replication fork going in the 5' - 3' direction. Synthesizes the leading strand.
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Constitutive genes
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Continuously expressed

Genes which code for housekeeping functions.

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copia
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A retroviruslike element found in Drosophila. Produces copious amounts of RNA.
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Circk's wobble hypothesis
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Hypothesized by Francis Crick. In a tRNA, the first two bases in the codon/anti-codon are very important. Pairing at the third base, the wobble position is less important: supports some, but not all types of base pairing.
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CSA
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A gene on chromosome 5 for DNA excision repair protein. Mutation in this gene can cause Cockayne syndrome.
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CSB
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A gene on chromosome 10 for DNA excision repair protein. Mutation in this gene can cause Cockayne syndrome.
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Cut-and-paste transposon
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Transposition of cut-and-paste transposons. The transposon is excised from one position in the chromosome and inserted into another position.
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Cut-and-paste transposon
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A type of transposon. The element is moved by cut-and-paste transposition. Found in eukaryotes and prokaryotes. Encode for transposase. Includes IS elements, composite transposons, Ac/Ds elements, P elements, hobo elements, piggyBac elements, and Sleeping Beauty.
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Cyclic AMP (cAMP)
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Adenosine-3'-5'-monophosphate

The effector molecule of CAP. An inducer. CAP can only bind to the CAP/cAMP binding site when cAMP is bound to it. It is derived from ATP. Glucose inactivates the enzyme which converts ATP into cAMP.

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Cytosine
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Has a common amino form, and a rare imino form, with the H at C4 rather than C3. If treated with nitrous acid it changes to uracil, which pairs with adenine.
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David Baltimore, Howard Temin, and Stoshi Mizutani
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In 1970, discovered reverse transcriptase. This discovery initiated research into reverse transcription.
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Deaminating agent
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A class of chemical mutagens. Remove amino groups. Mutagenic to replicating and non-replicating DNA. Includes nitrous acid.
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Death angel mushroom
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Amanita sp.

Mushrooms which contain the deadly toxin ?-amanitin.

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Degeneracy
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A characteristic of the genetic code. All amino are specified by more than one codon except methionine and tryptophan. Includes partial degeneracy, where the last nucleotide can be either pyrimidine or either purine, and complete degeneracy, where the last nucleotide can be any base.
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Delicious Apples
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A somatic mutation. The original tree was a genetic mosaic, and vegetative propagation allowed the mutation to be perpetuated.
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Depression
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When a gene is deactivated by a repression.
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Discontinuous replication
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Occurs on the strand of the replication fork going in the 3' - 5' direction. Synthesizes the lagging strand in Okazaki fragments.
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Dispersive replication
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A possible method of DNA replication. Both new DNA strands contain segments from the original molecule. In Meselson and Stahl's experiment, all DNA strands would have hybrid density, decreasing as generations progress.
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DNA
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B-DNA

Found in most cells. Complementary base pairs (A with T, C with G) on antiparallel strands. A right-handed double helix is found in most living cells. There are ten base pairs per turn, 0.34 nm between stacked bases, 3.4 nm length per turn.

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DNA gyrase
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A DNA topoisomerase II in E. coli. A tetramer of two ? subunits encoded by gyrA, and two ? subunits encoded by gyrB.
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DNA helicase
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A component of the primosome and the replisome. Unwinds the DNA strand for replication, using ATP. Two are present: one for each direction of replication. Encoded by dnaB.
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DNA ligase
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Required for DNA replication, repair, and recombination in all organisms. Seals nicks between Okazaki fragments on the lagging strand, using energy from NAP or ATP, depending on species. Cannot work if a nucleotide is missing. Involved in excission repair and mismatch repair.
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DNA photolyase
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The enzyme which carries out light-dependent repair. Activated by light. Uses the energy from blue light to cleave cross-links and repair thymine, cytosine, or cytosine-thymine dimers.
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DNA polymerase
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Can add nucleotides to the 3' end of a primer strand, matching the opposite strand. Can only add in the 5' - 3' direction. A nucleophilic attack of the -OH group of the 3' end. Cannot produce DNA de novo. Makes one mistake out of every 105 - 106 nucleotides. Prokaryotes have 5 DNA polymerases. Eukaryotes have at least 15, some lacking 3' - 5' exonuclease activity.
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DNA polymerase eta (?)
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Replicates damaged DNA. Coded by POLH.
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DNA polymerase I
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Kornberg's enzyme

A replicative polymerase. Has a molecular mass of 103,000. A single polypeptide, encoded by polA. Catalyzes covalent addition of nucleotides to pre-existing DNA strands. Requires Mg2+ ions. Plays a role in chromosome replication and DNA. In E. coli it excises RNA primers and replaces then with DNA nucleotides using 5' - 3' exonuclease activity. Also has 3' - 5' exonuclease activity for proofreading. Not highly processive: has short tract synthesis.

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DNA polymerase II
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Involved in DNA repair.
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DNA polymerase III
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A replicative polymerase. A component of the replisome. A complex enzyme of at least 20 subunits. Has a molar mass of 900,000 Da in its holoenzyme form. Catalyzes the addition of DNA nucleotides to RNA primers. Terminates an Okazaki fragment when it encounters the RNA primer of the preceding fragment. The ?-dimer subunit, encoded by dnaN, is a ring that clamps the enzyme to the template strands so that it does not fall off easily. Has 5' - 3' exonuclease activity, only active on single-stranded DNA, and 3' - 5' exonuclease activity for proofreading. Involved in mismatch repair.
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DNA polymerase IV
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Involved in error-prone repair. High error frequency.
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DNA polymerase V
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Involved in error-prone repair. High error frequency.
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DNA primase
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A component of the primosome and the replisome. Synthesizes RNA primers. Encoded by dnaG.
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DNA repair endonuclease
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Involved in excision repair. Recognizes, binds to, and excises damaged base(s).
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DNA replication
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Catalyzed by DNA polymerase

(dNMP)n + dNTP > (dNMP)n+1 + PPi

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DNA topoisomerase
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A component of the replisome. Provides axes of rotation for replication of circular DNA by adding nicks ahead of DNA helicase. Prevents DNA from being positively supercoiled as it rotates for DNA replication. Includes DNA topoisomerases I and II. It is necessary for DNA replication.
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DNA topoisomerase I
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A DNA topoisomerase. Catalyzes a single-strand nick in the DNA. The remaining phosphodiester bond acts as a swivel, allowing the supercoil to undwind itself. Removes supercoils one at a time. Energy efficeint.
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DNA topoisomerase II
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A DNA topoisomerase. Produces double-stranded breaks in the DNA, adds a negative supercoil, and reseals the break. Removes positive supercoils two at a time, using ATP. Includes DNA gyrase.
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dnaA
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An E. coli gene that codes for the prepriming protein DnaA, which binds to the 9-bp sequence in oriC, then forms a 20 - 40 protein complex, opening the DNA strand.
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dnaB
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Encodes for DNA helicase, which unwinds the DNA strand.
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dnaG
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Encodes for DNA primase, which synthesizes RNA primers.
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dnaN
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Encodes for the ?-subunit of DNA polymerase III, which clamps the enzyme to the DNA strand.
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dNTP
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Deoxynucleotide triphosphate
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Downstream
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Towards teh 3' end of the RNA transcript.
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Downstream sequences (+)
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DNA sequences that follow the intiation site.
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dsRNA
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Double-stranded RNA. Rotavirus has dsRNA.
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Effector molecule
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Small molecules such as amino acids, sugars, or other metabolites. Causes allosteric transition in an activator or repressor which affects its ability to bind to RPBS. Includes inducers and co-repressors.
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Elizabeth Blackburn and Carol Greider
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Discovered telomerase in 1985. Won the Nobel Prize in Physiology or Medicine with Jack Szostak in 2009.
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Elongation factor G (EF-G)
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The tRNA at the A site is moved to the P site, the tRNA at the P site is moved to the E site, and the tRNA at the E site is released. Requires GTP. The ribosome changes conformation.
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Elongation factor Tu (EF-Tu-GTP)
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Contains a molecule of GTP. Provides GTP to peptidyl transferase. It is released as EF-Tu-GDP after the polypeptide bond forms, and it is converted back into EF-Tu-GTP by EF-Ts. Interacts with all aminoacyl tRNAs except methionyl-tRNA.
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Elongation factor Ts (EF-Ts)
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Converts EF-Tu-GDP into EF-Tu-GTP.
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End-product binding site
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Regulatory binding site. The site or sites where the end product binds to an enzyme. Often on a separate subunit from where the substrate binds. The enzyme undergoes allosteric transition which reduces its affinity for the subtrate.
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Endogenous retrovirus
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Retrovirus DNA which can be transmitted to subsequent generations of an organism. Some retroviruses lose their ability to produce viral particles, and become innocuous.
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Enhanceosome
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A protein complex in mammals that initiates activation of genes via chromatin remodeling. Adds acetyl groups to histone tails upstream from the promoter region.
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Enhancer
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Modulates the efficiency of transcription initiation in eukaryotes.
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Enol
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The rare form of guanine and thymine.
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env
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A gene in a retrovirus. Codes for protein components of the virus envelope.
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Equilibrium density-gradient centrifugation
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Meselson and Stahl used this method to separate isotopic DNA from regular DNA, using cesium chloride salts, which have approximately the same density as DNA.
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eRF
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The release factor in eukaryotes. Recognizes all three termination codons.
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Error-prone repair system (SOS response)
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A DNA repair mechanism. Activated after extreme damage to DNA: a survival mechanism. DNA repair, recombination, and replication proteins are synthesized. Excision repair may fix much of the DNA. DNA polymerase IV and V replicates across damaged segments. It has a high frequency of replication errors.
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Ethyl ethane sulfonate (EMS)
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An alkylating agent.
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Ethyl methane sulfonate (EMS)
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An alkylating agent.
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Eukaryotes
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Shorter RNA primers and Okazaki fragments. DNA replication occurs only in S phase. There are multiple origins of replications, nucleosomes, and telomeres. Eukaryotes have at least 15 DNA polymerases. DNA polymerase ?, ?, and ? replicate the chromosomes. Eukaryotes have 5 RNA polymerases. Transcription and translation are not coupled, and most transcripts are modified and transported to the cytoplasm.
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Evolution
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Mutations occur in all organisms and viruses, and increases genetic variability. Natural selection preserves combinations of genes adapted to the environment.
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Excinuclease
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A nuclease that cleaves on either side of damaged base(s). Distinct from endonucleases and exonucleases. Involved in nucleotide excision repair.
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Excision repair
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A DNA repair mechanism. DNA repair endonuclease or endonuclease-containing enzymes recognize and bind to damaged strands of DNA as a template. DNA ligase seals the nicks left by DNA polymerase. Includes base excision repair and nucleotide excision repair.
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Excited state
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Electrons in higher energy levels. Caused by nonionizing radiation. Causes increased reactivity in DNA.
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Exit site (E)
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The E site on a ribosome. Binds to the departing uncharged tRNA.
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Exon
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Expressed sequences. Coding sequences. Remain present in mRNA after introns are spliced out.
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Exonuclease activity
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Corrections. Nucleotides are removed. Incorrect base pairs are detected due to their incorrect geometry.
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Eye
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A structure that forms during replication of the linear chromosome of phage T7.
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F, G, and I elements
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A group of retroposons found in Drosophila.
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FA
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Eight genes, A - H, on 5 different chromosomes. Mutations in these genes can cause Fanconi anemia.
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FACT
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Facilitates Chromatin Transcription

A protein which removes H2a and H2b histones as RNA polymerase II passes over nucleosomes, then re-attaches them afterwards.

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Fanconi anemia
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An inherited disease caused by defects in DNA repair mechanisms. Sensitivity to DNA cross-linking agents, chromosome instability, and prone to cancer. Impaired removal of DNA inter-strand cross-links, such as those formed by mitomycin C antibiotic. Caused by mutation in FA.
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Feedback inhibition
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End-product inhibition. The product of a synthetic pathway inhibits the first enzyme in the pathway. Results in an almost instantaneous arrest of synthesis. Not to be confused with repression.
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Forward mutation
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A mutation of a wild-type allele that results in a mutant allele.
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Frameshift mutation
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An insertion or deletion of a number of base pairs that is not a multiple of three within the coding regions of a gene. Alters the reading frame of codons in mRNA translation. Amino acid sequence is dramatically altered, almost always leading to a non-functional protein.
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Francis Crick
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First described the Central Dogma of molecular biology, and suggested that there was an adaptor molecule between RNA and polypeptides (tRNA) in 1958.

In 1961, published the first evidence for triplet codes after doing experiments with T4 bacteriophages: found that single and double-base mutations caused mutant phenotype, but triple-base mutations preserved the wild phenotype. Also proposed the wobby hypothesis.

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Francois Jacob and Jacques Monod
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Developed the operon model in 1961 to explain regulation of genes for lactose metabolism in E. coli. Won the Nobel Prize in 1965.
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FRAXA
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A site on the X chromosome. If there is a CGG trinucleotide repeat, it causes fragile X syndrome, the most common form of inherited mental retardation in humans. Normal X chromosomes have 6 - 50 copies, and fragile X patients can have up to 1000 copies.
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gag
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A gene in a retrovirus. Codes for structural proteins of the virus capsule.
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GC box
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An element of a promoter for RNA polymerase II. Consensus sequence is GGGCGG.
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Genetic code
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Specification of amino acids by codons. Composed of nucleotide triplets, does not overlap, does not have punctuation, has degeneracy, order, start and stop codons, and is nearly universal.
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George Beadle and Edward Tatum
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Won the Nobel Prize in 1958. Irradiated Neruospora crassa spores with X or UV rays, and screened the clones for growth-factor requirements. Each mutation resulted in a requirement of just one metabolite. Demonstrated the one-gene-one polypeptide concept.
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Gerald Rubin and Allan Spralding
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Tried to use a transposon to carry a cloned gene into an organism. They were successful in returning rosy eye colour Drosophila mutants into wild-type by inserting the wild gene from a bacterial plasmid.
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Germinal mutation
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A mutation that occurs in germ-line cells, which gives rise to gametes. If it occurs in the gamete cell, one progeny is affected. If it occurs in a cell which then gives rise to gametes, many progeny may be affected.
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Guanine
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Has a common keto form, and a rare enol form, with the H at the C6 rather than C1. If treated with nitrous acid, it changes to xanthine, which pairs with cytosine, so there is no change.
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Guide RNAs
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RNAs that assist in RNA editing where uridine monophosphate is inserted or deleted from a sequence, dramatically changing the polypeptide it codes for. Has complementary sequence to the transcript being edited, and acts as a template for U insertion.
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gypsy
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A retroviruslike element found in Drosophila. Larger than copia.
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gyrA
answer

nalA

Encodes for the ? subunit of DNA gyrase. Inhibited by Nalidixic acid.

question
gyrB
answer

cou

Encodes for the ? subunit of DNA gyrase. Inhibited by coumermycin antibiotic.

question
Hermann J. Muller
answer
In 1927, discovered that X rays could induce mutations in Drosophila sperm. This changed the field of genetics. Received the Nobel Prize for Physiology or Medicine in 1946. Developed the ClB method.
question
HeT-A
answer
Regenerates lost chromosome ends in Drosophila.
question
Heterogeneous nuclear RNA (hnRNA)
answer
The populatoin of RNA transcripts in the nucleus of a eukaryote. Vary in size. Mostly pre-mRNA undergoing processing events before leaving the nucleus.
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hobo elements
answer
Cut-and-paste transposons found in Drosophila.
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Holoenzyme
answer
The complete enzyme.
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Housekeeping functions
answer
Gene products such as tRNA, rRNA, ribosomal proteins, RNA polymerase, and enzymes catalyzing basic metabolic processes. Coded by constitutive genes.
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Human immunodeficiency virus (HIV)
answer
A retrovirus in humans which causes AIDS. Transmitted by blood or semen. Intravenous drug users and sex industry workers are at high risk.
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Hutchinson-Gilford syndrome
answer
A severe form of progeria. Wrinkles, baldness, and other symptoms of age begin immediately after birth. The patient usually dies in their teens. Caused by a dominant mutation that affects the shape of nuclei in cells.
question
Hydrogen bonds
answer
An element of tertiary structure of proteins. Weak interactions between electronegative atoms and hydrogen atoms bound to other electronegative atoms.
question
Hydrophobic interactions
answer
An element of tertiary structure of proteins. Associations of nonpolar groups with each other in aqueous solution.
question
Hydroxylamine (NH2OH)
answer
A hydroxylating agent. Produces C:G > A:T transitions. The amino group of cytosine is hydroxylated, producing hydroxylaminocytosine, which pairs with adenine. Due to its specific activity, it can be used to examine the nature of mutations.
question
Hydroxylating agent
answer
A class of chemical mutagens. Add hydroxyl groups. Includes hydroxylamine.
question
I
answer
The repressor gene of the lac operon. Codes for lac repressor, a tetramer with four copies of the gene product. It binds to operators two at a time to prevent RNA transcription, unless allolactose is bound to it. WHen bound to O1 and O2, a hairpin is formed in the DNA. When bound to O1 and O3, a loop is formed in the DNA. It has mutations I-, I-d, and Is.
question
I-
answer
A mutation of in the lac operon. Causes constitutive synthesis of lac gene products. I+ is dominant to it. Can act in cis or in trans. May affect genes on other DNA molecules in the bacteria.
question
I-d
answer
A mutation in of the lac operon. Dominant to I+ because its products form heteromultimers with I+ gene products, forming repressors which can bind to operators, but cannot bind to the affector molecule allolactose.
question
Is
answer
A mutation of in the lac operon. Produces uninducible repressors which require high amounts of lactose to produce induction.
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Imino
answer
The rare form of cytosine and adenine.
question
Induced mutations
answer
Mutations that result from exposure to physical or chemical mutagens.
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Inducer
answer
Effector molecules that cause induction of genes. Cause activators to bind to RPBS. Cause repressors to fall off the RPBS.
question
Inducible enzymes
answer
Enzymes encoded by inducible genes. Often catalyze catabolic pathways.
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Inducible genes
answer
Genes whose expression is regulated by induction. Produce inducible enzymes.
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Induction
answer
The activation of genes with the presence or absence of a subtance. Alters the rate of enzyme synthesis.
question
Initiation codon
answer
Initiates translation. Usually AUG, but in prokaryots it is sometimes GUG. In prokaryotes it cods for tRNAfMet.
question
Initiation factors
answer

Proteins in E. coli which are necessary for initiation of translation. Includes IF-1, IF-2, and IF-3

IF-2 interacts with fMet

IF-1 and IF-3 bring the 30S subunit to mRNA using GTP.

question
Inosine
answer
A modified guanine/adenine derivative.
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Integrase
answer
An enzyme which integrates DNA produced by reverse transcriptase into a random site in the DNA. Coded for by retrotransposons.
question
Intein
answer
Short amino acid sequences that excise themselves from nascent polyptpides. First discovered in Mycobacterium tuberculosis.
question
Intron
answer

Intervening sequences

Non-coding sequences. Found in split genes. Introns can be up to 7,000 nucleotides long. May play a role in gene expression, or are remnants from gene evolution. There can be alternate splicings for one gene, producing multiple products. 60% - 80% of our genes have alternate products. Some introns have sequences that play a role in transcription. There are conserved sequences at the ends of introns: GU-intron-AG. Removed by splicing reactions carried out by splicing endonucleases, self-splicing, or spliceosomes.

question
Ionic bonds
answer
An element of tertiary structure of proteins. Occurs between amino acid side chains with opposite charges. Strong under some conditions, but relatively weak in aqueous environments due to polar water molecules.
question
Ionizing radiation
answer
A mutagen. Lower wavelength, higher energy radiation, including X-rays, gamma rays, and cosmic rays. Penetrates living tissues, causing release of electrons. Produces free radicals: positively charged ions which create more free radicals. Breaks chromosomes and causes deletions, duplications, inversions, and translocations. Dosage is measured in roentgen. Dosage rate is directly correlated with amounts of mutations.
question
IS element
answer

Insertion sequences

Cut-and-paste transposons found in bacteria. Includes IS50. The simplest type of transposon: contains only genes that encode for its own transposition. Inserts at many sites in bacterial chromosomes and plasmids. Short and compactly organized: usually fewer than 2500 bp. There may be up to 10 copies of a single SI element in the genome. Allows for homologous recombination between chromosomes and plasmids, or between plasmids. Causes target site duplications when inserted.

question
J. Herbert Taylor, Phillip Woods, and Walter Hughes
answer
Used autoradiography to examine radioactive chromosomes as they replicate, providing proof of semiconservative replication in the root tips of Vicia faba. Labelled chromosomes with a radioactive isotope of thymine, and transferred it into a solution containing colchicine, causing chromosomes to double in the cell.
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James Herrick and Ernest Irons
answer
A physician and medical intern in Chicago who discovered sickle cell anemia in 1904.
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Jean Lamarck and Trofim Lysenko
answer
Believed in the inheritance of acquired traits. Lysenko sold this concept to the Soviet Union from 1937 to 1964. Actually, acquired traits are not heritable, the environment simply selects fro pre-existing mutations. This was proved by Joshua and Esther Lederberg.
question
Jessie Hiatt
answer
An Iowa farmer who discovered Delicious Apples in 1881.
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Joel Huberman and Arthur Riggs
answer
In 1968, used autoradiography of labelled DNA from Chinese hamster cells to show that in eukaryotes, DNA replication occurs bidirectionally from multiple origins.
question
John Cairns
answer
Established the existence of the origin of replication. In 1963, showed that the chromosome of E. coli was a single molecule of DNA, using autoradiography. Replication of the circular chromosome during cell division produces a ?-shaped structure with two forks.
question
John Lim
answer
Suggested that transposons play a role in the evolution of chromosome structure. Transposons on the same chromosome can have crossing-over to cause deletions. Transposons on sister chromosomes can cause transfer of selections from chromosome to chromosome.
question
Joshua and Esther Lederberg
answer
In 1952, definitively proved that acquired traits were not inherited, by devloping replica plating.
question
Keto
answer
The common form of guanine and thymine.
question
Kozak's rules
answer

Named after Marilyn Kozak, who proposed them. A series of rules of how the efficiency of initiation is changed by changes of bases from the optimal initiation sequence in eukaryotes:

5' - GCC(A/G)CCAUGG-3'

question
L1
answer
A LINE found in humans. 6 kbp long, with internal promoters that are recognized by RNA polymerase II. Two open-reading frames that encode for a nucleic-acid binding protein, and an endonuclease with reverse transcriptase activity. The human genome has 3000 - 5000 L1 elements, and over 500,000 truncated (from the 5' end) non-functional L1 elements. Flanked by short target site duplications.
question
lac-
answer
Mutations in E. coli caused by inertion of an IS element into lac genes. Reversion to wild-type is caused by excision of the IS element, and occurs at a high rate.
question
lac operon
answer
An inducible operon. Induced only if lactose is present, and glucose is absent. Its products break down lactose. Consists of P, I, three operators O1, O2, O3and three structural genes lacZ, lacY, and lacA. The operaotrs may have Oc mutation. All structural genes are activated at low background levels at all times. Operators overlap with initiation start sites.
question
lacA
answer
A structural gene of the lac operon. Codes for ?-galactoside transacetylase.
question
lacY
answer
A structural gene of the lac operon. Codes for ?-galactoside permease. Transports lactose.
question
lacZ
answer
A structural gene of the lac operon. Codes for ?-galatosidase. Converts lactose into allolactose. Cleaves lactose into glucose into galactose.
question
Lagging strand
answer
Synthesized by discontinuous replication. Consists of Okazaki fragments.
question
Lariat formation
answer
The 5' phosphate of the G end of the 5' end of the intron is formed to the 2'-OH of the A at the 3' end of the intron by the spliceosome.
question
Leading strand
answer
Synthesized by continuous replication.
question
Light-dependent repair
answer

Photoreactivation

A DNA repair mechanism found only in bacteria. Works only in light. Carried out by DNA photolyase. Repairs thymine, cytosine, or cytosine-thymine dimers caused by nonionizing radiation. Used as a tool to detect thymine dimers.

question
LINEs
answer
Long interspersed nuclear elements. Retroposons found in humans. Includes L1.
question
Linus Pauling
answer
Thought that DNA may have been triple-stranded. This does sometimes occur in deformed cells.
question
Maria Schnos and Ross Inman
answer
Used A:T rich markers in phage ? to prove that it is bidirectional replicatio. A:T pairs separate at high temperatures or pH, where C:G pairs do not, causing denaturation bubbles. Exposed replicating chromosomes to high pH at different stages of replication and examined the denaturation bubbles.
question
Marilyn Kozak
answer
Proposed Kozak's rules.
question
Marshall Nirenberg, Severo Ochoa, H. Ghobind Khorana, Philip Leder, and colleagues
answer
Worked out the meaning of all 64 codons of the entire genetic code. Nirenberg and Khorana shared the Nobel Prize in Physiology or Medicine in 1968.
question
Mary Lou Pardue, Robert Levis, Haral Beissman, James Mason, and colleagues.
answer
Showed that HeT-A and TART regenerate lost chromosome ends in Drosophila.
question
Masayasu Nomura and colleagues
answer
Disassembled the E. coli 30S ribosomal subunit into its individual proteins and rRNAs to study it.
question
Matthew Meselson and Franklin Stahl
answer
In 1958, proved that E. coli replicates its DNA using semiconservative replication. Grew E. coli in a solution containing a heavy isotope of nitrogen, 15N. DNA which contains this isotope is denser than regular DNA. They separated it using equilibrium density-gradient centrifugation with cesium chloride salts. Results were consistent with semiconservative replication: two DNA strands had intermediate density, and the rest had normal density.
question
Merozygotes
answer
Partially diploid bacteria with F' factors.
question
Messenger RNA (mRNA)
answer
A type of RNA. It is translated into proteins on ribosomes. The product of pre-mRNA processing: removal of introns, modification of termini.
question
Methionine
answer
One of the only amino acids which is specified by a single codon.
question
Micro RNA (miRNA, siRNA, RNAi)
answer
A type of RNA. 20 - 22 nucleotide segments. Cleaved from small hair-pin shaped precursors. Block the expression of complementary or partially complementary mRNAs by either causing their degradation or repressing translation.
question
Minimal medium
answer
Ionic salts, a simple sugar, and the vitamin biotin. Wild-type Neurospora crassa can survive in this medium.
question
Mismatch repair
answer
A DNA repair mechanism. A backup to replicative proofreading. A universal mechanism. Scans for and corrects mismatched nucleotides in DNA post-replication. The template strand and non-template strand are differentiated by their methylation patterns after DNA replication: the newly synthesized strand is unmethylated. In E. coli, MutS, MutH, MutL, UvrD, exonuclease, DNA polymerase III, and DNA ligase are involved.
question
Missense mutation
answer
A mutation that changes a codon to produce a different amino acid. Causes impaired function of the gene product.
question
MSH1
answer
A gene on chromosome 3 for a homolog of E. coli mismatch repair protein MutL. Mutation of this gene can cause nonpolyposis colon cancer.
question
MSH2
answer
A gene on chromosome 2 for a DNA mismatch recognition protein, similar to MutS in E. coli. Mutation in this gene can cause nonpolyposis colon cancer.
question
MSH6
answer
A gene on chromosome 2 for MutS homolog 6. Mutation in this gene can cause nonpolyposis colon cancer.
question
Mustard gas
answer

Di-(2-chlorethyl) sulfide

An alkylating agent. Its effects were studied by Charlotte Auberach and associates.

question
Mutagen
answer
Physical or chemical factors which cause induced mutations. Increases frequency of mutation up to 1% per gene. Includes ionizing radiaton, nonionizing radiation, and chemical mutagens.
question
Mutant
answer
An organism which exhibits a novel phenotype as a result of a mutation.
question
Mutation
answer
A change in genetic material, and the process by which this change occurs. The ultimate source of all genetic variation: the raw material for evolution.
question
MutH
answer
Involved in mismatch repair in E. coli. Joins the complex formed by MutS. Cleaves unmethylated strand at hemi-methylated GATC sequences on either side of the mismatch, comparing old and new strands based on methylation.
question
MutL
answer
Involved in mismatch repair in E. coli. Joins the complex formed by MutS.
question
MutS
answer
Involved in mismatch repair in E. coli. Recognizes mismatches and binds to initiate the repair process.
question
Mycobacterium tuberculosis
answer
The bacteria which causes tuberculosis. Inteins were first discovered in this species.
question
Nap-1
answer
Nucleosome assembly protein 1. Transports new histones from the cytoplasm to the nucleus during DNA replication.
question
Negative control mechanism
answer
Repressors are needed to shut off expression of structural genes.
question
Neurospora crassa
answer
A salmon-coloured bread mould. Can survive in minimal medium. George Beadle and Edward Tatum used this species in their experiments proving the one geneone polypeptide concept.
question
Neutral mutation
answer
A mutation that causes a change in amino acid to an amino acid with similar properties. The function of the mutated polypeptide is not altered.
question
Nick
answer
A break in the phosphoriester bond of one of the strands of DNA. All nucleotides are present. DNA ligase seals the nick.
question
Nijmegan breakage syndrome
answer
An inherited disease caused by defects in DNA repair mechanisms. Chromosome instability, microcephaly, and prone to cancer. Increased chromosome aberrations. Caused by mutation in NBSI.
question
Nitrous acid (HNO2)
answer
A deaminating agent. A potent mutagen. Causes oxidative deamination of amino groups in adenine, guanine, and cytosine. Converts amino groups into keto groups. Adenine changes to hypoxanthine. Cytosine changes to uracil. Guanine changes to xanthine.
question
Nonionizing radiation
answer
A mutagen. Higher wavelength, lower energy radiation, including ultraviolet radiation. Does not have enough energy to cause ionizations. Penetrates only the surface layer of cells of the body, but can be highly damaging to single-celled organisms. Raises electrons into an excited state. PRoduces pyrimidine hydrates and dimers. Hydrates cause mis-pairing. Dimers disturb the structure of DNA, interfering with replication and repair.
question
Nonpolyposis colon cancer
answer

Lynch syndrome

An inherited disease caused by defects in DNA repair mechanism. High rist of familial colon cancer. Occurs in 1/200 individuals. Caused by mutation in MSH2, MSH1, MSH6, PMS2, or PMS1.

question
Nonsense mutation
answer
A mutation that produces chain-termination codons. Results in truncated polypeptides.
question
Nontemplate strand
answer

Sense strand

The DNA strand which is not transcribed. Identical to the RNA transcript, but has T rather than U.

question
NPSI
answer
A gene on chromosome 8 for DNA double strand break recognition protein. Mutation in this gene can cause Nijmegan breakage syndrome.
question
Nuclear organizer regions
answer
Regions of the chromosome with redundant, tandem rRNA coding sequences. There may be multiple.
question
Nuclease activity
answer

Synthesis

Nucleotides are added.

question
Nucleolus
answer
A region of rRNA synthesis and ribosome assembly in the nucleus.
question
Nucleoside
answer
A pentose sugar and a nitrogenous base, without a phosphate group.
question
Nucleotide
answer
A pentose sugar and a nitrogenous base, with a phosphate group.
question
Nucleotide excision repair
answer
A type of excision repair. Removal of larger defects such as thymine dimers. Involves excinucleases. In E. coli three proteins are involved, and in humans twelve are involved, including XPA. Mutation in nucleotide excision repair genes can cause xeroderma pigmentosum.
question
O1
answer
An operator in the lac operon discovered by Jacob and Monod. Located between P and lacZ.
question
O2
answer
An operator in the lac operon. Located downstream from O1 within lacZ.
question
O3
answer
An operator in the lac operon. Located upstream of P.
question
Oc
answer
A mutation of any of the operators in the lac operon. Causes constitutive synthesis of lac gene products. Acts only in cis; cannot affect genes on other DNA molecules.
question
Octamer box
answer
An element of a promoter for RNA polymerase II. Consensus sequence is ATTTGCAT.
question
Okazaki fragments
answer
Short fragments of DNA 100 - 200 bp on the lagging strand. Replicated in the 5' - 3' direction, overall in the 3' - 5' direction.
question
One gene-one polypeptide
answer
A concept demonstrated by George Beadle and Edward Tatum. Each gene encodes one polypeptide. Modified from "one gene-one enzyme" concept, because some enzymes are multimeric.
question
Operator
answer
A gene which is contiguous with structural genes that it regulates. Repressors bind to the operator to turn off transcription. An operon may have several operators.
question
Operon
answer
A negative control system. Consists of structural genes, operators, and a promoter. In an inducible operon, free repressors turn off transcription. In a repressible operon only a repressor/effector complex can turn off transcription. All genes in the operon are transcribed onto a single mRNA molecule, so all genes are expressed simultaneously, and products are in equal proportions in the cell.
question
Operon model
answer
A negative control mechanism proposed by Francois Jacob and Jacques Monod. A regulator gene encodes for a repressor which binds to an operator. This controls expression of the operon.
question
Order
answer
A characteristic of genetic code. Amino acids with similar properties have similar codons. Evolved as a way of minimalizing mutation lethality.
question
oriC
answer
The origin of replication in E. coli. 245-bp, with two conserved repeat sequences. An A:T rich 13-bp sequence is repeated four times, facilitating formation of the replication bubble. A 9-bp sequence is repeated four times, facilitating binding of prepriming proteins.
question
Origin of replication
answer
The site of initiation of DNA replication. There is usually one per chromosome on bacterial and viral DNA. There are multiple per chromosome in eukaryotes, each controlling one replicon. In eukaryotes, origins of replication may be very long. In E. coli it is oriC.
question
Oscar Miller, Barbara Hamkalo, and colleagues
answer
Developed imaging techniques to allow observation of transcription and translation occuring on the same RNA molecule in a prokaryote.
question
P
answer
The promoter of the lac operon.
question
P elements
answer
Cut-and-paste transposons found in Drosophila. Cause mutations.
question
Paula DeLucia and John Cairns
answer
In 1969, discovered that DNA polymerase I was not the only DNA polymerase in E. coli.
question
Peptide
answer
Two or more amino acids.
question
Peptide bond
answer
Covalent linkage between amino acids and polypeptides. Formation on ribosomes is catalyzed by peptidyl transferase.
question
Peptidyl site (P)
answer
The P site on a ribosome. Binds the tRNA to the growing polypeptide.
question
Peptidyl transferase
answer
Enzymatic activity built into the 50S subunit of the ribosome, on an rRNA molecule. Catalyzes the formation of a covalent peptide bond between the amino acid at the P site and the aminoacyl-tRNA at the A site, uncoupling the amino acid and tRNA at the P site. Uses GTP provided by EF-Tu-GTP.
question
piggyBac elements
answer
Cut-and-paste transposons found in moths. Can be a transition vector for many species.
question
Plasticity
answer
Ability to turn genes on and off rapidly to acheive maximal growth and reproduction under a wide range of environmental conditions. In prokaryotes, there may be preprogrammed circuits or cascades of gene expression. Genes cannot be turned on out of sequence.
question
PMS1
answer
A gene on chromosome 2 for a yeast mismatch repair protein homolog. Mutation in this gene can cause nonpolyposis colon cancer.
question
PMS2
answer
A gene on chromosome 7 for endonuclease PMS2. Mutation in this gene can cause nonpolyposis colon cancer.
question
Point mutation
answer
A mutation at a speciifc site in a gene. Substitution of one base pair for amother, or the insertion or deletion of a few nucleotide pairs at a specific site in the gene.
question
pol
answer
A gene of a retrovirus. Codes for reverse transcriptase or integrease.
question
POLH
answer

XPV

Codes for DNA polymerase eta. Loss of this gene leads to xeroderma pigmentosum.

question
Poly(A) polymerase
answer
Performs polyadenylation: adds poly(A) tails to the cleaved 3' end of transcripts following a AAUAAA sequence.
question
Poly(A) tail
answer
A polyadenosine tract 20 - 200 nucleotides long, joined to the cleaved 3' end of an RNA transcript. Gives the transcript stability, and plays a role in transport out of the nucleus. Added by poly(A) polymerase. Binds to proteins and protects the 3' end from degradation.
question
Polyadenylation
answer
The addition of poly(A) tails to the cleaved 3' end of mRNAs in eukaryotes.
question
Polypeptide
answer
The constituents of proteins. Long chains of amino acids.
question
Positive control mechanisms
answer
Activators are needed to turn on expression of structural genes.
question
Postreplication repair
answer
A DNA repair mechanism. Activated in mutants deficient in more than one repair system. DNA polymerase III stops when it encounters a thymine dimer, and replication is continued past the dimer, forming a gap in the nascent strand. RecA mediates exchange of singel strands between homologous DNA molecules. There is recombination, inserting the sequence for the nascent strand, and the thymine dimer remains on the other side. If the nucleotide excision repair system does not repair it, this process is repeated at each replication of the DNA.
question
PPi
answer
Pyrophosphate
question
Pre-mRNA
answer
The product of transcription in eukaryotes. It is processed by excision of introns, and modification of termini before translation.
question
Prepriming proteins
answer
Aid in the formation of the replication bubble by forming multi-protein complexes that bend the DNA molecule. In E. coli, they bind to the 9-bp repeat sequences. Includes DnaA.
question
Pribnow box
answer
The -35 sequence and the -10 sequence.
question
Primary structure
answer
A level of structure in proteins. The amino acid sequence, specified by the nucleotide sequence.
question
Primary transcript
answer
The product of transcription in prokaryotes.
question
Primer DNA
answer
Provides DNA polymerase with a 3' terminus with a free -OH.
question
Primosome
answer
A protein complex containing DNA primase and DNA helicase. DNA helicase unwinds the DNA, and DNA primase adds RNA primers to the lagging strand, initiating Okazaki strands.
question
Proflavin
answer
2,8-diamino acridine. An acridine dye.
question
Progeria
answer
A disorder in humans characterized by premature aging. Exact mechanism is unknown. The most severe form is Hutchinson-Gilford syndrome. A less severe form is Werner syndrome.
question
Prokaryotes
answer
Have on RNA polymerase. Transcription and translation are tightly coupled, and may take place simultaneously on the same RNA transcript. No modification of the transcript occurs: mRNA is short-lived.
question
Promoters
answer
Specific nucleotide sequences that bind to RNA polymerase. Near transcription start sites. More complex in eukaryotes than in prokaryotse. Includes the -10 and -35 sequences in E. coli. Promoters for RNA polymerase II includes the TATA box, CAAT box, GC box, and octamer box.
question
Proofreading
answer
Uses 3' - 5' exonuclease activity by DNA polymerase I and III. Reduces the expected error rate of DNA replication from 1/104 times to 1/106 times. The nascent strand is scanned for errors, which are corrected using 3' - 5' exonuclease activity.
question
Protein
answer
Made of polypeptides.
question
Quaternary structure
answer
A level of structure in proteins. The association of two or more polypeptides in a multimeric protein.
question
R-determinant
answer
A component of a conjugative R plasmid. Genes for antibiotic resistance.
question
R loop
answer
A region where RNA binds to one of the strands of DNA, displaicng the other strand. Can be visualized using electron microscopy. First observed by Shirtley Tilghman, Philip Leder, and colleagues.
question
Reading frame
answer
Where each codon beings and ends on an mRNA. If there is a frameshift mutation, the reading frame is altered, producing a mutant phenotype. If there is a mutation involving a number of nucleotides that is a multiple of three, the reading frame is not altered.
question
RECQLA
answer
A gene on chromosome 8 for RecQ helicase L4. Mutation in this gene can cause Rothmund-Thomson syndrome.
question
Regulator genes
answer
Encode products that regulate the expression of other genes. Bind to RPBS. Regulators produced are either activators or reprssors. Their ability to bind to RPBS is affected by effector molecules.
question
Reiji and Tuneko Okazaki
answer
In the 1960s, discovered discontinuous relpication using isotope labelling in T4-infected E. coli.
question
Release factors (RFs)
answer
Recognize termination codons. Attach a water molecule to the carboxyl terminus of the polypeptide, releasing the polypeptide from the tRNA at the P site. Prokaryotes have two: RF-1 and RF-2. Eukaryotes have one: eRF.
question
Replica plating
answer
A technique developed by Joshua Esther Lederberg in 1952. Demonstrates the presence of antibiotic resistant mutants in bacterial cultures prior to introduction of antibiotic. Cultures that had been exposed to the antibiotic were much more likely to contain antibiotic resistant bacteria that ones which had not been exposed. If mutations for resistance occured after exposure to the drug, and were not randomly pre-existing in the population, then cultures that had not been exposed to the antibiotic would be just as likely to contain resistant bacteria as cultures that had been.
question
Replication bubble
answer
The two strands of DNA come apart for replication. Facilitated by prepriming proteins. In E. coli it is facilitated by A:T rich in 13-bp repeat sequences in oriC.
question
Replication fork
answer
Y-shaped structures that occur during DNA replication. They have bidirectional replication, in opposite directions. One side of the fork has continuous replication, and the other has discontinuous replication.
question
Replicative transposition
answer
Transposition of replicative transposons. Catalyzed by transposases. The element is replicated and one copy is inserted at the new site, and one copy remains at the original site.
question
Replicative transposon
answer
A type of transposon. The element is moved by replicative transposition. Found in prokaryotes. Contain genes for transposase. Includes Tn3 elements.
question
Replicative polymerases
answer
DNA polymerases I and III. Involved in DNA replication. They both add 30,000 nucleotides per minutes: one error per 108 - 109 nucleotides.
question
Replicon
answer
A segment of DNA which is replicated by one origin of replication. In prokaryotes the entire chromosome is one replicon. Eukaryotes have around 10,000 replicons. The number of replicons is not fixed throughout growth and development.
question
Replisome
answer
The complete replication apparatus that moves along the replication fork: topoisomerase, DNA helicase, SSB proteins and other prepriming proteins, DNA primase, and replicative polymerases, DNA I and III.
question
Repression
answer
The deactivation of a gene. Produces depression of a gene. Anabolic pathways are often repressed. Not to be confused with feedback inhibition.
question
Repressor
answer
The product of regulator genes in negative control mechanisms. It is needed to shut of expression of one or more structural genes.
question
res
answer

Resolution site

Sites on the Tn3 element where site-specific recombination occurs in the cointegrate.

question
Resistance transfer factor (RTF)
answer
A component of a conjugative R plasmid. Genes needed for conjugative transfer between cells.
question
Retroposon
answer

Non-LTR retrotransposons

A type of retrotransposon. Not related to viral genes. Large and widely distributed. Codes for reverse transcriptase and endonuclease activity. Flanked by untranslated regions (UTR), and homogenous sequences of A:T base pairs at the ends, derived from poly(A) tails of the RNAs from which they are produced. Include F, G, and I elements, telomeric retrotransposons, LINEs, and SINEs.

question
Retrotransposition
answer
Transposition of retrotransposons. The RNA of the element is used as a template to generate DNA that is inserted into new chromosomal sites.
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Retrotransposon
answer

"Backwards"

A type of transposon. The element is moved by retrotransposition. Found only in eukaryotes. Includes retrovirus like elements and retroposons.

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Retrovirus
answer
Viruses whose life-cycle depends on retrotransposition. Their genomes are RNA strands, which are retrotransposed into the DNA of their host. Genes include gag, pol, and env. Includes HIV.
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Retrovirus-like elements
answer

LTR retrotransposons

A type of retrotransposon. Related to viral genes. Found in many eukaryotes, including yeasts, plants, and animals. Codes for reverse transcriptase and integrase, flanked by a long terminal repeate (LTR) and short target site duplications. There are about 400,000 in the human genome. Includes Ty1, copia, and gypsy.

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Reverse transcriptase
answer
Catalyzes the reverse transcription of RNA into DNA. Goes backwards from the central dogma. Discovered by David Baltimore, Howard Temin, and Satoshi Mizutani. Coded for by retrotransposons.
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Reversion
answer

Reverse mutation

A mutation which restores a mutant allele to the wild-type allele. Includes back mutations and suppressor mutations; distinguished by back-crossing the mutation to a wild-type individual. Genes vary in which type of reversion is more common.

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RF-1
answer
A release factor in prokaryotes. Recognizes UAA and UAG.
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RF-2
answer
A release factor in prokaryotes. Recognizes UAA and UGA.
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Rho (?)
answer
A protein that binds to rut near the 3' end of a transcript, and then moves 5' - 3' down the nascent strand RNA, after RNA polymerase. When RNA polymerase slows at the hairpin, it uses helicase activity to unwind the DNA/RNA base-pairing at the terminus.
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Rho-dependent terminator
answer
A type of termination signal in E. coli. Termination occurs only in the presence of rho.
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Rho-independent terminator
answer
A type of termination signal in E. coli. Termination can occur without rho. Contains a C:G rich region followed by six or more A:T base pairs, with A's in the template strand. When transcribed, it forms a hairpin in the nascent RNA. This slows RNA polymerase, and the weak A:U section causes RNA polymerase and the nascent RNA strand to simply fall off the DNA.
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Ribonucleoside triphosphate (RTP)
answer
The precursors for RNA synthesis.
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Ribosomal RNA (rRNA)
answer
A type of RNA. A structural and catalytic component of ribosomes.
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Ribosome
answer
Intricate macromolecular machines composed of 3 - 5 rRNAs, and 50 - 90  proteins. Perform translation. Found throughout the prokaryote cells, and in the cytoplasm and ER of eukaryote cells. Composed of rRNA and proteins. Consists of two subunits, one large and one small, which associate when they bind to mRNA and dissociate when they detach. Size and structure of ribosomes varies between species. Size is measured in Svedberg units. Has an A, P, and E site.
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Ribozyme
answer
An RNA enzyme. In self-splicing, the intron is a ribozyme for its own splicing reaction.
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RNA editing
answer
Alteration of the content of RNA transcripts by changing the structure of bases (rare), or by inserting or deleting uridine monophosphate residues. Example: apo-B.
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RNA polymerase
answer

Catalyzes the addition of RTPs to 3' end of an RNA strand. Moves in the 5' - 3' direction on the DNA, using it as a template. A nucleopilic attack of the 3'-OH on the nucleotide phosphorus atom of the RTP. Eliminates pyrophosphate. Binds to promoters on DNA. Eukaryotes have five RNA polymerases for different types of RNA, and prokaryotes have one. Produces a transcription bubble by winding DNA ahead of the polymerization side, and rewinding it behind. RNA polymerase holoenzyme in E. coli has a molecular weight of 480,000, consisting of 5 polypeptides, two of which are identical. Includes the tetrameric core and sigma factor. Adds 40 ribonucleotides per second. The region where RNA and DNA are base-paired is about 3 base pairs in length.

n(RTP) - (DNA template, RNA polymerase) > (RMP)n + n(PP)

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RNA polymerase I
answer
Found in almost all eukaryotes. Located in the nucleolus. Produces rRNAs, but not 5S rRNA.
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RNA polymerase II
answer
Found in almost all eukaryotes. Located in the nucleus. Produces nuclear pre-mRNAs, and other hnRNAs.
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RNA polymerase III
answer
Found in almost all eukaryotes. Located in the nucleus. Produces tRNA, 5S rRNA, and other snRNAs.
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RNA polymerase IV
answer
Found only in plants and some fungi. Plays a role in chromatin remodeling. Located in the nucleus. Produces siRNAs.
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RNA polymerase V
answer
Found only in plants and some fungi. Plays a role in chromatin remodeling. Located in the nucleus. Produces some siRNAs, plus noncoding transcripts of siRNA target genes, which interact and condense chromatin in chromatin remodelling.
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RNA primer
answer
RNA segments bound to the lagging strand which initiates an Okazaki strand. Synthesized by DNA primase. 10 - 60 nucleotides long in prokaryotes, about 10 nucloetides long in eukaryotes.
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Robert W. Holley and colleagues
answer
In 1965, published the proposed cloverleaf structure of tRNA. Holley shared the Nobel Prize in Physiology or Medicine in 1968.
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Roentgen (r)
answer
The unit in which dosage of ionizing radiation is measured. Equal to 2.083 x 109 ion pairs produced in one cm3 of air at 0? C and a pressure of 760 mmHg.
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Rolling-circle replication
answer
Used by many viruses, in bacteria during genetic exchange, and in some amphibians during amplification of extracrhomosomal DNA during oogenesis. A circular DNA segment stays intact, and "rolls" as it acts as the template for DNA synthesis. It may roll more than once, producing a linear DNA longer than the parent DNA, with its sequences repeated.
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Rotavirus
answer
A virus that contains dsRNA. Kills infants in 3rd world countries.
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Rothmund-Thomsun syndrome
answer
An inherited disease caused by defects in DNA repair mechanisms. Chromosome instability, mental retardation, and prone to cancer. Alterations in specific DNA helicases. Caused by mutation in RECQL4.
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RPBS
answer
Regulator protein-binding sites. Sites adjacent to promoter regions for genes, where activators or repressors bind.
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rut
answer

Rho utilization

A binding site for rho.

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Saccharomyces cerevisiae
answer
A test organsim in which splicing endonucleases were studied.
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Science
answer
If you cannot disprove a hypothesis, you must accept it.
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Secondary structure
answer
A level of structure in proteins. The spatial interrelationship of amino acids in segments of the polypeptide, maintained by hydrogen bonds. Includes ? helices and ? sheets.
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Self-splicing
answer

Autocatalytic activity

Discovered by Thomas Check and Sidney Altmari. Splicing reactions are intrinsic to the RNA, and occur without enzymes in rRNA, tRNA, and mRNA of mitochondria and chloroplasts. Uses no energy source: a series of phosphoester bond transfers occur, requiring guanosine nucleoside or nucleotides (GTP, GDP, GMP, or guanosine), with a free 3' -OH group. Splicing depends on the secondary structure of the RNA precursor to bring reactive groups together: the intron is a ribozyme. Rapid degradation of excised introns drive the reaction. Studied in Tetrahymena thermophila.

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Selenocystein
answer
An additional amino acid to the regular 20. Contains a trace element of selenium. Coded by UGA. Terminates the polypeptide.
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Selenoproteins
answer
Proteins that contains selenocystein. The selenium usually plays a role in binding at active sites. Play an important role in all organism.
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Semiconservative replication
answer
A possible method of DNA replication. Two strands are unwound, and a complementary nascent strand is formed to each, producing 2 identical DNA molecules. In Meselson and Stahl's experiment, two DNA strands have hybrid density, and the rest have normal density. There is evidence that this method is used in bacteria, and all eukaryotes.
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Sense strand
answer
Strands of RNA that code for polypeptides.
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Sequence-specific protein-nucleic acid interactions
answer
Bonds between proteins and nucleic acids, such as between RNA polymerase and promoters, CAP/cAMP and its binding site, or repressors/activators and operators. Proteins bind to specific DNA sequences, alter the structure of DNA to stimulate or repress transcription.
question
Seth Wright
answer
A sheep farmer from Dover, Massachusetts who in 1791 discovered a germinal mutation in sheep that causes short legs.
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Shine-Dalgarno sequence
answer

AGGAGG

Named after the scientist who discovered it. A conserved sequence 7 nucleotides upstream from the initiation codon in prokaryotes. Forms base-pairing with an rRNA on the 30S subunit during initiation.

question
Shirley Tilghman, Philip Leder, and colleagues
answer
Hybridized purified mouse ?-globulin mRNA to the DNA that coded for the gene. Observed two R loops, demonstrating the existence of introns.
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Sickle-cell anemia
answer
Caused by a missense mutation in one of the proteins that make up hemoglobin in red blood cells.
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Side groups (R)
answer

Radicle

The group that differs between amino acids. Highly varied, producing the structural and functional versatility of proteins. Can be hydrophobic, hydrophilic, acidic, or basic.

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Sigma (?) factor
answer
A component of RNA polymerase in E. coli. A subunit involved only in initiation of transcription. It is released after initiation. Recognizes and binds to promoters. If absent, the tetrameric protein will initiate transcription at random sites on the DNA in vitro.
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Signal sequence
answer
A short amino acid sequence at the amino or carboxyl terminus of a nascent polypeptide which signals for transport into a specific cellular compartment. Often it is removed when the polypeptide reaches its destination.
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Silencer
answer
Modulates the efficiency of transcription initiation in eukaryotes.
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Silent mutation
answer
A mutation that has no effect on phenotype. This is due to degeneracy in genetic code.
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Simple tandem repeats
answer
Repeated sequences of 1 - 6 nucleotide pairs. Dispersed throughout the human genome.
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SINEs
answer

Short interspersed nuclear elements

Retroposons found in humans. Less than 400 bp. Do not encode proteins: rely on retrotransposition activity of LINEs. Includes Alu.

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Single-strand DNA-binding proteins (SSB proteins)
answer
A component of the replisome. Bind to single-strand DNA strands in the replication bubble, after DNA helicase has opened it, preventing it from binding to itself, forming hairpins, and slowing or halting DNA replication. Binding of one SSB leads to the binding of another SSB. Encoded by ssb.
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Sleeping Beauty
answer
A cut-and-paste transposon found in salmon. A transition vector which works well in many vertebrates. Potentially useful for human gene therapy.
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Small interfering RNA (siRNA)
answer
A type of RNA. Important regulators of gene expression. Interact with proteins to modify chromatin structure.
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Small nuclear RNA (snRNA)
answer
A type of RNA. Structural components of spliceosomes. Found in the nucleus. Includes U1, U2, U4, U5, and U6.
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Small nucleolar RNA (snoRNA)
answer
Small nuclear RNAs. Found in the nucleolus. Function in rRNA and tRNA modification.
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snRNPs
answer

Small nuclear ribonucleoproteins

"Snurps"

Complexes of snRNA and protein that are the constituents of spliceosomes.

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Somatic mutation
answer
A mutation that occurs in somatic cells, which do not give rise to gametes. Mutant phenotype occurs only in cells that descent from that cell, and will not pass onto progeny. Incldues Delicious apples, and navel oranges: the original mutants were genetic mosaics, and the mutation is reproduced by vegetative propagation.
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Spliceosomes
answer
Macromolecular structures containing about 40 different proteins and five snRNAs. Composed of snRNPs. Carry out splicing reactions, removing introns in nuclear pre-mRNA. Recognition of the correct site involves base-pairing between the consensus sequence and complementary sequence at the 5' end of an snRNA. The lariat formation is formed using ATP. The 3' end of the intron is cut, and the 5' end on the exon is joined to the 3' end on the other side by a normal 5' - 3' phosphodiester linkage.
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Splicing endonucleases
answer
Carry out splicing reactions in tRNAs. Two cuts are made at the ends of the intron, and splicing ligase joins the two halves. Studied in Saccharomyces cerevisiae.
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Splicing ligase
answer
Joines the to halves cut by splicing endonuclease.
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Splicing reactions
answer
Carried out by spliceosomes. Removes introns.
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Split genes
answer
Gene which have introns. Almost all eukaryotic genes have introns, some as many as 50.
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Sponanteous mutation
answer
Mutations with no known cause. May result from a low level of metabolic errors, or be caused by unknown agents in the environment. Occurs infrequently, but frequency varies with gene and organism. For bacteria and phages, frequency is 10-8 - 10-10, and for eukaryotes 10-7 - 10-9 per nucleotide.
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ssb
answer
Encodes for SSB proteins, which bind to single-stranded DNA in the replication bubble.
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Suppressor mutation
answer
A type of reversion. A second mutation at a different location in the genome compensates for the effects of the first muation, producing wild-type phenotype. Restores the reading frame, or changes the anticodon on a tRNA. If back-crossed to a wild-type individual, half the progeny are wild-type, a quarter have the muation, and a quarter have the second mutation without the first mutation.
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Suppressor tRNA
answer
tRNA which have a mutated anticodon that recognizes a termination codon: UAG, UAA, or UGA with varying efficiency. A suppressor mutation that negates nonsense mutations.
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Svedberg unit (S)
answer
The unit that the size of ribosomal complexes are measured in. A sedimentation coefficient = (velocity/centrifugal force) of 10-13 seconds.
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Sylvie Doublie and colleagues
answer
In 1998, determined the structure of phage T7 polymerases, similar to DNA polymerase I of E. coli. Found its shape is somewhat like a hand grasping the primer DNA.
question
Tanning beds
answer
Cause cancer. Are as dangerous as cigarettes or asbestos.
question
Target site duplications
answer
2 - 13 bp repeats caused by staggered cleavage of DNA when transposons are inserted.
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TART
answer
Telomere-assited retrotransposition. Regenerates lost chromosome ends in Drosophila.
question
TATA box
answer
An element of a promoter for DNA polymerase II. A conserved element at -30. The consensus sequence is TATAAAA (5' - 3' on the nontemplate strand). Plays a role in positioning the transcription start point.
question
Tautomeric shift
answer
A hydrogen atom moves its position on a nucleic base, changing its propertis. Rare, but causes alteration in pairing of bases. A change from keto to enol form, or from amino to imino form. The more rare forms are less stable, and exist only for short amounts of time, and have irregular base pairing. Form A:C and G:T base pairs, due to altered numbers of hydrogen bonds from the moved hydrogen.
question
Telomerase
answer
An RNA-containing enzyme which adds telomeres to a new DNA strand. Discovered in 1985 by Elizabeth Blackburn and Carol Greider. It extends the 3' end of the telomere with repetitive sequences. In humans the sequence is TTAGGG. Without telomerase, the chromosome would become shorter with every replication, since DNA polymerase cannot work without a 3' end. Somatic cells have low telomerase activity. Cancer cells have high telomerase activity. There is a correlation between telomere length and the age of cells. Shortening of the telomere with age leads to death.
question
Telomeric retroposons
answer
A retroposon found in Drosophila.
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Template strand
answer

Anti-sense strand

The DNA strand which is transcribed. Complementary to the RNA transcript.

question
Template strand
answer

Anti-sense strand

The 

question
terA
answer
Blocks movement of the replication fork in a counter-clockwise direction.
question
terB
answer
Blocks movement of the replication fork in a clockwise direction.
question
Termination signal
answer
A DNA sequence which causes the RNA polymerase to dissociate with the DNA, releasing the nascent RNA molecule. In E. coli this includes Rho-dependent and Rho-independent terminators.
question
Tertiary structure
answer

Conformation

A level of structure in proteins. The overall folding of the polypeptide. Ionic bonds, hydrogen bonds, hydrophobic interactions, Van der Waals interactions, and covalent disulfide bonds are elements of tertiary structure.

question
Tetrahymena thermophila
answer
A test organism in which self-splicing was studied.
question
Tetrameric core (?2??')
answer
A component of RNA polymerase in E. coli. The ? subunit is involved in its assembly. The ? subunit is the RTP binding site. The ?' subunit is the DNA template binding site. Catalyzes transcript elongation.
question
TFIIA, B, D, and F
answer
Basal transcription factors. Forms a pre-initiation complex that prepares DNA for unwinding and recruits RNA polymearse and TFIIE to form a transcription bubble and initiate transcription.
question
TFIIE
answer
A basal transcription factor. It is recruited by TFIIA, B, D, and F to form a transcription bubble and initiate transcription.
question
TFIIH
answer
A basal transcription factor. Associates and aids in DNA helix unwinding.
question
Thermus thermophilus
answer
A bacteria. The structure of its 70S ribosome was solved to a resolution of 0.55 nm using X-ray crystallography.
question
Thomas Cech and Sidney Altmari
answer
Discovered self-splicing in 1982. Won the Nobel PRize in Chemistry in 1989.
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Thymine
answer
It has a common keto form, and a rare enol form, with the H at C4 rather than C3.
question
Tn3 element
answer
A replicative transposon in bacteria. Terminate in simple inverted 38 - 40 bp repeats. Contain three genes: tnpA, tnpR, and bla. Fuses with plasmids to form cointegrates. The plasmid and chromosome are split at the res site, thus replicating and passin Tn3 on to the other plasmid.
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tnpA
answer
A gene in a Tn3 element. Codes for transposase.
question
tnpR
answer
A gene in a Tn3 element. Codes for resolvase or repressor. Binds to the res site to prevent transcription.
question
Transcript
answer
A strand of RNA produced by transcription. Identical sequence to the nontemplate strand of DNA. In prokaryotes, the half-life of a transcript is less than 5 minutes. In eukaryotes, the transcripts have proteins bound to them which protect them from degradation, increasing their half-life to 5 hours.
question
Transcription
answer
An RNA transcript is produced, using DNA as a template.
question
Transcription bubble
answer
A locally unwound segment of DNA where RNA transcription takes place. Produced by RNA polymerase. In E. coli it is about 18 nucleotide pairs wide.
question
Transcription factor
answer
Proteins that bind to the promoter region and form a complex before RNA polymerase II can bind in eukaryotes. Forms a locally unwound segment of DNA. Includes basal transcription factors.
question
Transcription unit
answer
A segment of DNA that is transcribed to produce on RNA molecule. May be equivalent to one gene, or include several genes. Large transcripts with many genes are common in bacteria.
question
Transfer RNA (tRNA)
answer
A type of RNA. Small RNA molecuels. Adaptors between amino acids and the codons in mRNA during translation. Have 1 - 4 unusual nucleotides that are modified post-transcriptionally by enzymes. Attach to amino acids by high energy bonds. Have an anticodon.
question
Transition
answer
A mutation caused by a tautomeric shift where a pyrimidine is replaced by the other pyrimidine, or a purine is replaced by the other purine. There are four possible transitions.
question
Transition vector
answer
The transposon used to carry genes into an organism. Gerald Rubin and Allan Spralding used a P element from bacteria. Different transition vectors work differently for different species.
question
Translation
answer
The sequence of nucleotides in an mRNA is converted into amino acids of a polypeptide, based on the genetic code. Takes place on ribosomes in the cytoplasm.
question
Translesion polymerase
answer
Replicate over lesions or defects which block replciation by most DNA polymerases.
question
Transposase
answer
A protein that enables cut-and-paste and replicative transposition. Encoded by cut-and-paste and replicative transposons. Binds at or near the ends of the element and cuts both strands of the DNA.
question
Transposition
answer
The movement of transposons.
question
Transposon
answer

Transposable element

Transposable genetic element

Discovered by Barbara McClintock. DNA elements that can move from site to site in the genome. Constitute over 40% of the human genome, 85% of the maize genome. Insertion of a transposon into a gene often renders genes non-functional. Can confer selective advantage, or act as a genetic parasite. Many mutations are caused by transposon insertion. Includes cut-and-paste transposons, replicative transposons, and retrotransposons.

question
Transposon tagging
answer
Identifying genes by using transposon-insertion mutations as markers.
question
Transversion
answer
A mutation caused by a tautomeric shift where a pyrimidine is replaced with a purine, or vice versa. There are eight possible transversions.
question
Trichothiodystrophy
answer
An inherited disease caused by defects in DNA repair mecahnisms. UV sensitivity, neurological disorders, and mental retardation. Individuals have short stature, brittle hair, and scaly skin. Caused by mutations in TTD, XBA, or XPD.
question
Trinucleotide repeats
answer
Simple tandem repeats with 3 nucleotide pairs. Increase in copy number causes inherited diseases. The higher the copy number, the more severe the symptoms. There can be anticipation. Incldues FRAXA.
question
Triplet code
answer
The nucleotide codons. Evidence for this was first found by Francis Crick in 1961.
question
tRNAfMet
answer
The aminoacyl-tRNA that the initiation codon codes for in prokaryotes. Adds a methionine with a formyl group. The amino terminus amino acid in prokaryotes is alwas f-methionine, and is often cleaved post-translationally.
question
tRNAiMet
answer
The aminoacyl-tRNA that the initiation codon, AUG, codes for in eukaryotes. Adds a methionine without a formyl group.
question
tRNAMet
answer
The aminoacyl-tRNA that AUG codon codes for, excepting the initiation codon in prokaryotes. Adds methionine without a formyl group.
question
trpA
answer
A gene in E. coli that encodes for the ? subunit of tryptophan synthetase. It was studied by Charles Yanofsky and colleagues.
question
trpB
answer
A gene in E. coli that encodes for the ? subunit of tryptophan synthetase.
question
Tryptophan
answer
One of the only amino acids which is specified by a single codon.
question
Tryptophan biosynthesis
answer
The genes for biosynthesis of tryptophan are depressed in the presence of tryptophan.
question
TTDA
answer
A gene on chromosome 6 for basal transcription factor IIH. Mutation in this gene can cause trichothiodystrophy.
question
Ty1
answer
A retrovirus-like element found in yeast. 5.8 kbp, with 340 bp LTRs. Creates a 5 bp target site duplication when inserted. Most yeast strains have about 35 copies of it. Incldues TyA and TyB genes, homologous to gag and pol, respectively.
question
Ultraviolet radiation (UV)
answer
A nonionizing radiation. Induces mutations through excidation of electrons. Causes cross-linking of adjacent thymines, to form thymine dimers that can block DNA replication and activate DNA repair mechanisms.
question
Unidirectional replication
answer
One replication fork remains stationary while the other moves away. Occurs in the circular chromosome of coliphage P2.
question
Universal
answer
A characteristic of genetic code. Virtually all organisms use the same genetic code. Exceptiosn in mitochondria and yeast. Mutations in tRNA cause deviations from the genetic code, and can arise as suppressor mutations.
question
Upstream
answer
Towards the 5' end of the RNA transcript.
question
Upstream sequence (-)
answer
DNA sequences that precede the initiation site.
question
UvrD
answer

MutU

DNA helicase

Involved in mismatch repair in E. coli. Necessary for excision.

question
Van der Waals interactions
answer
An element of tertiary structure of proteins. Weak attraction between atoms in close proximity.
question
Vernon Ingram
answer
In 1957, demonstrated that in a normal person, the 6th amino acid of the ?-subunit of hemoglobin is gluatmine, but in someone with sickle-cell anemia, it is valine.
question
Vicia faba
answer
Broad beans. Used in the experiments of Taylor, Woods, and Hughes.
question
Werner syndrome
answer
An inherited disease caused by defects in DNA repair mechanisms. Chromosome instability, progressive neurodegeneration, and prone to cancer. A less severe form of progeria. Sensesnce begins in the patient's teen years, and death occurs in the patient's 40s. Alterations in specific DNA helicases. Caused by a recessive mutation in WRN.
question
Wobble position
answer
The third base in a codon. It is not as important as the other bases, according to Crick's wobble hypothesis.
question
WRN
answer
A gene on chromosome 8 for WRN RecQ helicase. Mutation in this gene can cause Werner syndrome.
question
X-ray diffraction
answer
Used to create models of proteins.
question
X-ray radiation
answer
An ionizing radiation. Induces mutations through ionization.
question
Xenopus laevis
answer

South African clawed toad

Its nuclear organizer region is on the sex chromosome.

question
Xeroderma pigmentosum (XP)
answer
An inherited disease caused by defects in DNA repair mechanisms. UV sensitivity, early onset of skin cancers, and neurological disorders. DNA polymerase eta is absent. Caused by mutations in XPA, XPB, XPC, XPD, XPE, XPF, XPG, or XPV: genes for nucleotide excision repair.
question
XPA
answer
A gene on chromosome 9 for DNA damage recognition protein. Mutation in this gene can lead to xeroderma pigmentosum.
question
XPB
answer
A gene on chromosome 2 for 3' - 5' helicase. Mutation in this gene can lead to xeroderma pigmentosum or trichothiodystrophy.
question
XPC
answer
A gene on chromosome 3 for DNA damage recognition protein. Mutation in this gene can lead to xeroderma pigmentosum.
question
XPD
answer
A gene on chromosome 19 for 5' - 3' helicase. Mutation in this gene can lead to xeroderma pigmentosum or trichothiodystrophy.
question
XPE
answer
A gene on chromosome 11 for DNA damage recognition protein. Mutation in this gene can lead to xeroderma pigmentosum.
question
XPF
answer
A gene on chromosome 16 for nuclease 3' incision. Mutation in this gene can lead to xeroderma pigmentosum.
question
XPG
answer
A gene on chromosome 13 for nuclease 5' incision. Mutation in this gene can lead to xeroderma pigmentosum.
question
XPV
answer
A gene on chromosome 6 for translesion DNA polymerase ?. Mutation in this gene can lead to xeroderma pigmentosum.
question
Z-DNA
answer
Left-handed, open DNA. Found in some living cells.
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