question

PKU

answer

autosomal recessive condition in which phenylalanine levels become excessive; developmental delays, cognitive impairment, small head, seizures, musty odor, fair skin, light colored eyes

question

biomolecules

answer

have a carbon backbone

question

covalent bonds

answer

atoms share electron, strong bond, nonpolar and polar based on electronegativities of atoms involved.

question

nonpolar covalent bonds

answer

equal sharing of electrons, occurs between atoms with nearly identical electronegativities, hydrophobic.

question

polar covalent bonds

answer

unequal sharing of electrons, occurs between atoms with different electronegativities, hydrophilic

question

hydrogen bonds

answer

weak bonds, usually between N or O

question

biological molecules

answer

have a hydrocarbon backbone, has functional groups, etc.

question

Functional Groups

answer

important for proteins and amino acids; hydroxyl, phosphate, carboxyl, and amino

question

hydroxyl

answer

-OH; nucleic acids

question

carbonyl

answer

O=C; found in carbohydrates and nucleic acids

question

carboxyl

answer

C=O=OH; important for proteins

question

Amino

answer

N-HH; important for proteins

question

sulfydryl

answer

-S-H; found in proteins

question

Phosphate

answer

O-P-O=O; important for nucleic acids

question

Methyl

answer

C-H-H-H; found in proteins

question

macromolecules

answer

carbohydrates, lipids, proteins, nucleic acids

question

carbohydrates

answer

CH2O; glucose, energy storage, structural (cellulose and chitin)

question

lipids

answer

heterogeneous group; membranes, energy storage, hormones; hydrophobic

question

nucleic acids

answer

store and transmit hereditary material; DNA contains genes and is passed from parent to offspring; RNA intermediate between DNA and protein.

question

Nucleotides

answer

Nitrogenous base + phosphate group + sugar (OH in RNA and H in DNA)

question

Nitrogenous Bases

answer

PUrines and Pyrimidines; adenine, guanine, cytosine, thymine, uracil

question

Purines

answer

adenine and guanine

question

pyrimidines

answer

cytosine, thymine, uracil

question

polynucleotide chains

answer

synthesis by dehydration or condensation reaction and breakdown by hydrolysis reaction

question

DNA

answer

double stranded, deoxyribose phosphate backbone, hydrogen bonding occurs between base pairs, AGTC

question

RNA

answer

single stranded, ribose-phosphate backbone, AGUC

question

Amino Acids

answer

polar or nonpolar; OH or H - H20 for dipeptide (important for PKU)

question

antimitotic

answer

stops mitosis (nuclear division) cancer cells undergo mitosis at irregular fashion; hair loss, immunity, nausea because of no cell division in these areas.

question

cell cycle

answer

cycle of duplication and division necessary for cells to reproduce, continuous, directional, DNA must be faithfully replicated and DNA accurately segregated between two daughter cells

question

Interphase

answer

G1-replicate DNA nucleotides are building blocks and enzyme holds together, S- DNA synthesis copying, G2-separating DNA twice as much DNA than G1, G0- nondividing phase

question

chromosome replication

answer

occurs in S phase; cohesin present one single chromosome with two identical chromatids

question

M phase

answer

mitosis: nuclear division (karyokinesis), cytokinesis: cell division (cleavage); Prophase DNA coils, spindle going to nucleus, metaphase and anaphase results in accurate segregation; prophase, prometaphase, metaphase, anaphase, telophase

question

prometaphase

answer

nuclear envelope is gone, spindles attach to chromosomes

question

mitosis

answer

prometaphse spindles, metaphase line up, metaphase 4 chromosomes 8 DNA, anaphase 8 chromosomes 8 DNA

question

Cell cycle checkpoints

answer

G1/S- checks for DNA damage to ensure faithful replication, G2/M- checks for proper replication, spindle- spindles are properly attached to chromosome to ensure accurate segregation; signals in cytoplasm

question

kinase

answer

enzyme that regulates protein activity by adding phosphate group to protein; makes the structure and function different depending on the protein; MPF (mitosis promoting factor)

question

Kinase activity

answer

kinase concentration constant for time vs. activity; kinase activity up and down; protein is always there, but not always active

question

Cyclin

answer

concentration goes up and down; kinase only works if this active; peaks at mitosis to start the cell cycle

question

tumor suppressor genes

answer

'brakes' inhibit cell division until conditions are right for progression; proteins produced by these genes are going to stop cell division

question

proto-oncogenes

answer

'gas pedal' stuck; initiates controlled cell division; mutations convert them to oncogenes, which promote uncontrolled cell proliferation; growth factor receptor more per cell in cancer

question

meiosis

answer

diploid-replication-reductional division Meiosis 1- haploid- equational division haploid; DNA content = 1/2x

question

prophase 1

answer

formation of tetrads (bivalents); crossing over at chiasma between non-sister chromatids

question

meiosis 1

answer

chiasmats hold homologous together; kinetochores of sister chromatids fuse and function as one microtubules can attach to only one side of each centromere

question

anaphase 1

answer

chiasmats add homologues together; kinetichores of sister chromatids fuse and function as one; microtubules can attach to only one side of each centromere; pull the homologous chromosomes apart and sister chromatids held together

question

genetic variation

answer

independent assortment, crossing over, random fertilization

question

transmission genetics

answer

the study of how traits are passed from one generation to another

question

Gregor Mendel

answer

father of genetics; mid-late 1800s; independent assortment; used garden peas

question

model organism

answer

easy to maintain, short lifespan, numerous offspring, genetic variation, known history

question

true-breeding

answer

either AA or aa; removes confounding variables

question

single-factor cross

answer

true breeding dominant x true breeding recessive; all tall

question

monohybrid cross

answer

self-cross of F1 generation: 1:3 short

question

Reciprocal Cross

answer

switch parental genotypes of true breeding to determine affects of gender; equal contributions

question

alleles

answer

alternate versions of heritable factors (genes) exist

question

Independent Segregation

answer

paired factors segregate randomly so that half of the gametes received one factor and half of the gametes received; alleles segregate during anaphase 1

question

test cross

answer

heterozygous x recessive

question

binomial expansion formula

answer

used when birth order is unknown: P = n!/A!a! (pA)A(Pa)a

question

lethal alleles

answer

homozygous is lethal; mexican hairless dog and achondroplasia

question

hierarchal dominance

answer

many alleles involved with one gene; dominance relationship

question

incomplete dominance

answer

Rr = one allele doesn't completely mask the trait; blending of the two traits

question

ABO Blood Types

answer

IA IB dominant and i is recessive; IAIA type A; IAi type A; IBIB type B; IBi type B; IAIB type AB; ii type O; codominance

question

codominance

answer

receive an intermediate phenotype; IAIB=AB

question

lab coat colors

answer

9:3:4 when heterozygotes crossed; caused by epistasis; modification of 9:3:3:1 ratio; little e is masking the big B genotype; B gene determines color (black or brown) and E determines if pigment is deposited in hair: e-cannot deposit

question

gene interactions

answer

genes at different loci contribute to the determination of a single phenotypic characteristic (2 genes contribute to one phenotype)

question

epistasis

answer

one gene masks the effect of another gene at a different locus: epistatic-masking and hypostatic-being masked; results in a modified 9:3:3:1 ratio

question

polydactyly

answer

autosomal dominant; incomplete penetrance example

question

incomplete penetrance

answer

phenotype doesn't always matter the genotype; % of individuals having a particular genotype that express the expected phenotype

question

variable expressivity

answer

have same genotype but don't all look the same; degree to which a penetrant gene or genotype is expressed; continuum of expression

question

genetic heterogeneity

answer

genetic complementation; explains why none of children by affected parents have disease

question

homogametic

answer

two of the same sex chromosome; females XX

question

heterogametic

answer

half os gametes X and half Y; XY male

question

karyotype

answer

used to determine chromosomes

question

Turner Syndrome

answer

monosomy X; short stature, (45, X)

question

Klinefelter Syndrome

answer

47, XXY; presence or absence of Y means male; male with female characteristics

question

SRY

answer

gene on the Y-chromosome that determines male characteristics; can occasionally attach to X and cause phenotype male

question

pseudoautosomal regions

answer

brackets on X and Y chromosomes that cause chromosomes to align during meiosis I

question

Sutton and Boveri

answer

genes are located on chromosomes; chromosomes undergo segregation and independent assortment 1902

question

Thomas Hunt Morgan

answer

embryologist who worked with drosophila mutants; reciprocal cross and eye color gene on x chromosome

question

sex influenced trait

answer

trait expressed different in males and females; an allele is dominant in one sex and recessive in the other; autosomal; pattern baldness by too much DHT; different in heterozygotes

question

sex limited trait

answer

trait appears in only one gender; autosomal; milk production example; add or subtract hormones to test

question

dosage compensation

answer

to offset differences in the number of active sex chromosomes

question

Barr and Bertram

answer

observed condensed structure in female cat cells but not in males

question

Mary Lyon

answer

Barr body is an inactivated X chromosome

question

X inactivation

answer

barr body turned off for proper function; normal has one, turner has zero

question

mitochondrial inheritance

answer

affected individuals have an affected mother; trait never passed from father to offspring; can trace ancestry through mother

question

x-linked recessive

answer

father must be affected for offspring to be affected; usually more males

question

Y-linked

answer

affected father passes trait to all sons and no daughters; male-to-male transmission

question

linked genes

answer

two or more genes can be located on the same chromosome; genes that are close together tend to be transmitted as a unit; if not independent assortment, linked genes present

question

recombination

answer

crossing over that happens during prophase 1; sorting of alleles into new combinations; progeny exhibit mixing of maternal and paternal alleles

question

independent assortment

answer

50% non-recombinant (parental) and 50% recombinant

question

dependent assortment

answer

completely linked; no crossing over takes place between genes. 100% of gametes are nonrecombinant (parental)

question

Between assortment

answer

some crossing over; 50%<parental gametes<100%; 0%<recombinant genes<50%; closer, crossing over less likely

question

linkage maps

answer

gene map determining how far genes are from each other

question

2 point test cross

answer

dihybrid (doubly heterozygous) x all recessive

question

3 point test cross

answer

trihybrid (triply heterozygous) x all recessive

question

cis configuration

answer

MD md

question

trans configuration

answer

Md mD

question

parental progeny

answer

greatest number in offspring after test cross

question

recombinant progeny

answer

least number in offspring after test cross

question

recombination frequency

answer

# of recombinant offspring/total X 100 = map units

question

haplotype

answer

set of linked genetic markers that are generally inherited as a unit; used to detect crossover events

question

LOD score > 3

answer

linked; data and number of recombinants 1000 times more likely chance they are linked verses not linked; log of odds score

question

maternal effect gene

answer

genes exhibiting inheritance pattern in mother; cytoplasmic determination; mother's genotype determines individual's phenotype; products from nurse cells transferred to inside the egg

question

genomic imprinting

answer

type of epigenetic inheritance; non-medelian grouping; expression of trait depends on whether it was inherited from the mother or the father

question

monoallelic expression

answer

imprinted gene is expressed depending on how the genes are marked or methylated; either maternally inherited, paternally, but not both

question

uniparental disomy

answer

one parent, two chromosomes, indiivduals inherit both chromosomes from each parent

question

Angelman syndrome

answer

skinny, puppet-like; deleted region of chromosome 15 on the maternal chromosome

question

Prader-Willi Syndrome

answer

obese, mental retardation; deleted region of 15 in father

question

multifactorial inheritance

answer

due to an interactino between genes and the environment

question

mendelian traits

answer

primarily due to a single gene

question

polygenic traits

answer

due to multiple genes; variation is continuous, not discrete; individual genes follow Mendel's laws; effect of genes is additive or synergistic

question

monozygotic concordance

answer

comparison between identical twins

question

dizygotic concordance

answer

comparison between fraternal twins

question

concordance data

answer

if MZ concordance > DZ, it is assumed that trait is partly controlled by genetics, MZ should be 2x greater than DZ; MZ concordance <100% indicates that environment plays a role in expression

question

adoption studies

answer

look at environment vs. adoptive parents to determine multifactorial traits

question

association studies

answer

look for association between particular trait and a gene or a genetic marker and see if dfferent: SNP

question

Single nucleotide polymorphism

answer

SNP; difference in single nucleotide

question

purine

answer

has extra structure; adenine and guanine

question

Fred Griffith

answer

studied mice; transferred R and S bacteria; S-virulent and R-no disease; mixed R and S; live R strains turned to S strains (bacterial transformation)

question

Avery, Macleod, McCarty

answer

live S + various enzymes (destroying DNA, RNA, or protein) mixed with R strains; transformation occurred in DNAse

question

Hershey and Chase

answer

bacteriophage experiments; tell difference between DNA and protein by phosphate; used radioactive isotypes to differentiate; proteins use sulfer-3s to label proteins but not DNA; P labels DNA; concluded DNA is the genetic material that viruses injected into bacteria

question

Chargaff's Rules

answer

ratios of nitrogenous bases; A%=%T (two hydrogen bonds) and G%=C% (three hydrogen bonds); %purine = %pyrimidine for double-stranded

question

X Ray diffraction

answer

Franklin and Wilkins; DNA caused to scatter and detected by X-ray film; led to Watson and Crick

question

Watson and Crick

answer

1953; hypothesized a double-helix and looked at spacing: 3.4 nm = one turn; width is 2nm ; 10bp per turn =.34 nm between base pairs

question

phosphodiester bonds

answer

sugar phosphate backbone held together

question

Hydrogen Bonding

answer

strands held together

question

antiparallel

answer

complimentary and 5'3'

question

B Form

answer

the most common form of DNA in living cells

question

Semiconservative Method of Replication

answer

proposed by Watson and Crick; Meselson and Stahl tested; labeled DNA with radioactive nitrogen; two rounds of separation

question

Conservative Method

answer

...

question

Dispersive Method

answer

...

question

Kornberg and Ochoa

answer

made own nucleotides; added to intact DNA and got long strands of radioactive DNA; added to fragmented DNA and got no long strands of DNA

question

okazaki fragments

answer

short molecules of single-stranded DNA that are formed on the lagging strand during DNA replication; discontinuous; together by DNA ligase enzyme

question

telomeres

answer

DNA synthesis occurs here; telomerase makes telomeres shorter; as adults age, telomeres shorter and shorter, allowing more issues

question

DNA

answer

genetic material for inheritance that stores information and is passed on; storage molecule; double stranded; stable and cannot function as enzyme

question

gene expression

answer

the process of 'reading' the instructions in DNA to produce a RNA molecule or protein

question

central dogma

answer

DNA to RNA to protein; Francis and Crick; if RnA not final product, translation occurs

question

introns

answer

spliced and usually do not code for proteins

question

exons

answer

spliced together and are coding regions

question

RNA

answer

carries protein-encoding information and helps to make proteins; has two hydroxyl groups on 3' and 2' whereas DNA has one OH; unstable and functions as enzyme

question

mRNA

answer

encodes amino acid sequence

question

tRNA

answer

transports specific amino acids to the ribosome for protein synthesis

question

rRNA

answer

associates with proteins to form ribosomes, which structurally support and catalyze protein synthesis

question

RNA polymerase

answer

joins enzymes together; induces transcription

question

helicase

answer

enzyme that helps separate DNA strands at origin of replication

question

primase

answer

primer made of RNA for syntheiss

question

lagging strand

answer

goes from 3' to 5' end; small fragments called okazaki

question

leading strand

answer

goes from 5' to 3' end; continuous in one piece

question

DNA ligase

answer

seals and forms new phosphodiester bond to join okazaki fragments

question

transcription components

answer

building blocks (three phosphates for energy) template strand, and enzymes (rna polymerase and transcription factors)

question

nontemplate strand

answer

sense strand or coding strand

question

template strand

answer

nonsense strand or noncoding strand; RNA polymerase reads template strand (origin of replication) at promotor (specific to RNA pol); coding region transcribed where codons are; terminator part of RNA

question

initiation

answer

RNA pol and TF recognize promotor and separates DNA strands (Helicase not needed)

question

elongation

answer

RNA reads DNA template strand and adds complementary nucleotides in 5' 3' direction (U instead of T); different in prokaryotic and eukaryotic by number of polymerases

question

termination

answer

RNA reaches terminator, dissociates from DNA and release RNA

question

TATA box

answer

only has hydrogen bonds and easier to pull apart; promoter region in prokaryotes

question

AUG

answer

start codon

question

Initiation eukaryotes

answer

require may need Transcription factors, RNA pol II

question

regulatory elements

answer

elements (have an affect) located far from the gene; enhancers and silencers

question

enhancer

answer

rate of transcription increases when activator binds to enhancer

question

silencer

answer

rate of transcription decreases when repressor binds to silencer

question

termination

answer

pro- mediated by specific sequences in RNA and DNA and by specific proteins: UGA UAA UAG eukaryotic- do not know sequences

question

UGA UAA UAG

answer

stop codons

question

Complimentary to Template strand

answer

antiparallel; result of transcription

question

ribosomes

answer

E P A site; small subunit added then large subunit added; tRNA anticodon enters slots; cap important for ribosome to bind to prokaryote; when translation done exits through E

question

Shine-dalgarno sequence

answer

leader sequence in ribosome SSU binding

question

initiator tRNA

answer

small ribosomal subunit binds followed by binding of this

question

peptidyl transferase

answer

formation of peptide; catalyzed by ribozyme that recognizes start and makes peptide bonds for protein; NH+3 amino group and N- terminus (carboxyl) N on left, C on right

question

translocation

answer

to reuse empty tRNA; shifts over and recharged EPA goes to EPA site; continues until stop codon

question

germline mutation

answer

passed on to future generations

question

somatic cell mutation

answer

size of patch depend on timing of mutation, genetic mosaic, mutation not transmitted to offspring

question

spontaneous mutations

answer

occur randomly due to errors in cellular/biological process

question

induced mutations

answer

due to exposure to a mutagen

question

directed mutation theory

answer

selected conditions could promote the formation of specific mutaitons

question

random mutation theory

answer

environmental factors simply select for the survival of those individuals that happen to possess beneficial mutations

question

mutation rate

answer

commonly expressed as the number of new mutations in a given gene per generation; increased by presence of mutagens; implies time

question

hot spots

answer

locations within the chromosome that make them more susceptible to mutation

question

mutation frequency

answer

the number of mutant genes divided by the total number of genes in a population # of cases / 2(# of individuals)

question

ionizing radiation

answer

shorter wavelength and high energy; free radicals by dislodging e- from atoms; includes X rays and gamma rays; severe damage to DNA

question

ultraviolet radiation

answer

longer wavelength and lower energy

question

base modifiers

answer

changes functional groups on the bases; incorrect base pairing

question

intercalating agents

answer

goes between DNA messes up splicing, makes smaller or longer with addition or deletion; frameshift mutation

question

base analogue

answer

structures similar to regular nucleotides and cause incorrect or incomplete DNA replication

question

transition

answer

DNA level base substitutions; purine to purine/pyrimidine to pyrimidine

question

transversion

answer

DNA level base substitution purine to pyrimidine

question

phenotypic mutations

answer

missense, nonsense, silent mutations

question

missense

answer

codes for a different amino acid

question

nonsense

answer

incorporates a stop codon

question

silent mutation

answer

synonymous mutation codes for same thing

question

frameshift mutations

answer

DNA level base insertion and base deletion

question

In-Frame Insertions and Deletions

answer

insertion or deletion of nucleotides in multiples of three; Trinucleotide repeat expansion has sequence of 3 nucleotides can increase from one generation to the next, Fragile X and Huntings has them repeated

question

anticipation

answer

symptoms worsen from one generation to the next

question

DNA repair pathway

answer

detection-excision-polymerization-ligation

question

nucleotide excision

answer

repairs UV, chemical, etc. replaces up to 30 nucleotides

question

base excision

answer

from oxidative damage and free radicals, replaces 1-5 nucleotides

question

Xeroderma Pigmentosum

answer

autosomal recessive; 7 genes involved; skin disease

question

cokayne syndrome

answer

mutation in ERCC6 (involved in excision repair) on chrosome ten; progeria

question

mismatch repair

answer

original strand methylated and new strand is not, detected and removed wrong areas by enzymes

question

cytogenetics

answer

subdiscipline in which scientists study chromosome structure and link variations of structure with specific traits or disorders

question

chromatin

answer

DNA and associated proteins that give shape

question

euchromatin

answer

less condensed; majority of chromosome; stains lightly; active DNA

question

heterochromatin

answer

condensed at telomeres and centromeres; not transcribed b/c used to hold together; repeated DNA in regions; sometimes barr body is example

question

centromere

answer

specific repeated blocks of DNA that facilitate binding of specific proteins i.e. kinetochore; important for proper segregation

question

telomere

answer

area for t-loop that prevents degradation; prevent attachment of chromosomes to others

question

origin of replication

answer

A-T rich sequences facilitate melting of DNA template

question

histones

answer

subunits occurred at different distances; core of histone proteins and DNA wrapped around them; 200 pieces of DnA per each nucleosome; protected DNA from degradation by nuclease

question

nucleosome

answer

beads on a string goes to 30 nm fiber to radial loops attached to scaffold in interphase chromosome

question

chromosome nomenclature

answer

chromosome #, short arm=p long arm=q

question

radial loops

answer

compaction level in interphase

question

telocentric

answer

centromere at end

question

acrocentric

answer

centromere near end

question

submetacentric

answer

p arm and a q arm

question

metacentric

answer

centromere in center

question

euploid variations

answer

multiple of n chromosomes

question

aneuploid variations

answer

extra, not a multiple of n chromosomes

question

FISH

answer

usually two red and two green; yellow means fused

question

hybridization

answer

different pieces of single-stranded DNA bind to one another

question

Down Syndrome

answer

trisomy 21

question

Edward Syndrome

answer

trisomy 18; mental and physical deficiences, early death, clenched fist

question

Patau syndrome

answer

trisomy 13; mental and physical deficiencies, triangular nose, cleft lip

question

nondisjunction

answer

failure of homologous chromosomes or sister chromatids to separate during mitosis or meiosis

question

mosaicism

answer

part of organism carries cells genetically different from other parts; have cells with different numbers of chromosomes due to mitotic nondisjunction

question

Cri-du-Chat

answer

high pitched cry, low birth weight, small head; 46, XX del5

question

terminal deletion

answer

deletion at end of chromosome

question

interstitial deletion

answer

deletion in middle of chromosome

question

Comparative Genomic Hybridization

answer

label DNA with dye and label test with green; hybridize; test>reference >1= duplication; <1=deletion

question

duplication

answer

duplication causes paralogs

question

pericentric inversion

answer

inverted region around the centromere; position affect

question

paracentric inversion

answer

inverted region on one arm; position affect

question

translocation

answer

cross location exchange in material between nonhomologous chromosomes

question

simple translocation

answer

stays on one arm

question

reciprocal translocation

answer

takes around centromere on another chromosome

question

balanced translocation

answer

no loss or gain of genetic material

question

unbalanced translocation

answer

loss or gain of genetic material

question

robertsonian translocation

answer

breakage of acrocentric chromosome leaving sticky ends; long arms join to form one large metacentric chromosome and short arms are lost

question

housekeeping genes

answer

essential genes that are constitutively expressed

question

regulated genes

answer

genes that are turned on or turned off depending on environment conditions

question

structural genes

answer

encode proteins that have a catalytic function or a structural function as opposed to regulatory function

question

repressor

answer

decrease transcription by preventing RNA pol binding to promotor

question

activator

answer

increase transcription by facilitating RNA pol binding at promotor

question

homeodomain

answer

important motif proteins that regulate development of multicellular organisms

question

lactose

answer

lactose converted by beta galactosidase and side product is allolactase; induces production of lactose utilizying enzymes

question

lacY

answer

mutation prevents lactose from entering cell

question

lacZ

answer

mutated lactose doesn't get broken down by beta-galac

question

lacI

answer

transcribed when lactose present and absent (codes for repressor)

question

lacp

answer

mutation results in no transcription

question

operator

answer

regulatory proteins like repressor bind

question

allolactose

answer

lactose converted to this and is an inducer that binds to repressor to prevent binding to operator

question

cortisol

answer

glucocorticoid hormone known as stress hormone modulates activity of regulatory transcription factors; can increase or decrease transcription whether binds to enhancer or repressor

question

core promoter

answer

proteins bind to this located close to +1 site and recruit RNA pol; facilitates basal level of transcription

question

control elements

answer

activators bind to enhancers to increase transcription and repressors bind to silence to decrease transcription; often located far from gene

question

methylation

answer

modification involved in epigenetic regulation; blocks binding of activator to enhancer because near enhancer

question

epigenetic changes

answer

changes in gene expression without changes to the DNA sequence

question

Rett Syndrome

answer

distinct hand movements, mental retardation, lethal in males, mutation in MECP2 gene; recognizes methylated cytosines and alters expression; Rett syndrome cannot regulate expression; No MECp2 can't have closed conformation and expressed too much

question

Regulation by methylation

answer

MECP2 recruits Histone deacetylate and converts chromatin to closed conformation (w/o genes will be expressed too much)

question

closed conformation

answer

chromatin very tightly packed and transcription may be difficult or impossible

question

open conformation

answer

chromatin is highly extended and transcription can take place

question

acetylation

answer

HAT allows open conformation; dissociated DnA is hypersensitive to DNAse and is available for transcription

question

deacetylation

answer

open to closed conformation by HDAC

question

alternative splicing

answer

splicing of pre-mRNA in multiple ways resulting in different mature mRNA molecules produced from a single gene; cutting and joining what is left

question

RNA interference

answer

lin4 interferes with translation of lin14; mutant lin4 results in lin14 expressed at wrong time

question

microRnA

answer

cause RNA interference; encoded by genes that produce small RNA molecules; silence expression of specific mRNAs; produce relatively large RNA that is self-complementary; dice RNA to small fragments

question

RISC

answer

RNA induced silencing complex; bind protein first and protein silences gene; translation of mRnA won't happen

question

post-translational regulation

answer

phosphorylation or other chemial modifications can alter the activity of a protein after it is produced on polypeptide chain (acetylation, methylation, phosphorylation)

question

adrenaline

answer

causes activation of phosphorylase enzyme to break down glycogen to produce glucose for quick energy source

question

transgenic organism

answer

introduction of new gene into an organism; rice: started with pathogen agrobacterium and incorporated into plant cell and cloned; treat with various hormones and result in new plant

question

recombinant DNA

answer

combination of fragments of DNA from different sources (cutting and pasting)

question

restriction enzymes

answer

restriction endonucleases cut at specific sequences (gives control over which fragments of DNA we get) and causes sticky ends; most palindromic; hydrogen bonds and the phosphodiester bond (ligase) for separating and cutting and sealing back together

question

sticky ends

answer

complimentary to each other and single stranded DNA

question

isolate DnA

answer

physically cut desired DNA fragment from gel and extract DNA; run on gel

question

gene cloning

answer

isolation of and copying a particular gene; gene of interest in foreign DNA + cloning vector = place recombinant DNA on bacteria and replicate DNA; reproduce to make new DNA molecules

question

Cloning Vectors

answer

origin of replication, selectable marker (antibiotic resistance and auxotrophic marker for specific nutrient) and unique restriction sites where gene of interest is inserted (multiple cloning site or polylinker)

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plasmid

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15 kb; bacterial transformation but can only clone small pieces of DNA and inefficient

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lambda phage

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phage infection up to 23 kb; virus good at getting DNA in cell efficient, but not big enough

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BAC

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bacterial transformation up to 500 kb bacterial artificial chromosome

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YAC

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yeast artificial chromosome in yeast transformation up to 600 kb

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plasmid vector

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polylinker in middle of lacZ gene; + restriction endonuclease enzyme cuts within lacZ+ foreign DnA and ligase added: plasmid not taken, empty plasmid taken by cell, recombinant taken up by cell; change color in search of beta-galac

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blue/white color screening

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tests for functional beta-galactosidase product to determine result; white contain vector harboring insert; blue colonies contain empty bector

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lambda phage vector

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specific to E. coli, must package DNA, cuts down on empty vectors b/c won't take up DnA if not right size

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DNA library

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collection of clones containing all the DNA fragments from one source; isolate DnA and then cut with restriction enzymes; organize by cloning them in a vector

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genomic library

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contains a copy of every fragment of genome, including introns if DnA is from a eukaryote

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cDNA

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complementary DnA contains only those DNA sequences that are transcribed into mRNA; contains only exons: ONLY genes expressed

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formation of cDNA

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isolate mature mRNA from cells-reverse transcriptase-RNADNA hybrid-degrade RNA+DNA polymerase and primer and get double stranded cDNA

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plasmid library

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DnA fragments from source-inserted into plasmid vector-transformation-each cell contains a single fragment and all cells in library

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phage library

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fragments from source-inserted into phage vector-phages infect e. coli- each phage contains a single fragment and together in library

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Screening DNA Library

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colony-replica-filter-hybridization with two different sources that will stick together and probed only to spots containing ssDNA-x ray film exposes and colonies containing the gene present

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disease diagnosis

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restriction site isn't normal in diseased; isolate DNA, cut with restrictions, run digested on gel, if different then affected

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RFLP

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restriction fragment length polymorphisms; use PCR to make copies of desired region, cut DNA with restriction enzyme and analyze on gel

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biopharming

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transgenic animals/plants cross of a gene from one species to another to amek protein secreted from milk; lysozyme and antithrombin in goat's milk

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VNTR

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variable number of tandem repeats; use PCR to amplify region, run gel to separate PCR products based on size, several set must be used to ensure fingerprinting

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bioremediation

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use genetically engineered microbes to degrade toxic substances in environment

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northern blot

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when, where, and how much RnA transcribed; tagged probe to detect specific; present in varying amounts in each tissue and alternatively spliced in each tissue

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western blot

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detects specific proteins; antibodies to be complementary to proteins; only in one lane = only in red blood cells

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microarrays

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gene chips; used to monitor gene expression of many genes at one time; isolated and fragmented and tagged with hybridization; red- has and more transcription so affected by cancer cells green-doens't have and gene was now turned off; yellow-both clear-nothing

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pharmacogenomics

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the study of how one's genome influences his/her reaction to drugs; analyze genome and find which side affects to a drug

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genomics

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development and application of new mapping, sequencing, and computational procedures to analyze the entire genomes of organisms

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Human Genome Project

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to discuss longterm exposure to low-level radiation; launched 1990 and completed 2001/2004; did not have appropriate technology and were looking for other energy sources; to map sequence and to develop new technology and sequence model organisms: genetic maps physical maps and complete genome sequence

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HGP linkage maps

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maps showing relative location of genes/markers based on recominbination frequency throughout world; used genetic markers

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genetic markers

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not in coding regions b/c this DNA shows much more variation; Restriction fragment length polymorphisms restriction at + or -, microsatellite markers b/c many distinct individuals, and SNPs

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microsatellite markers

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use PCR to amplify alleles in genomic DNA samples, denature PCR products and size-fractionate by gel electrophoresis

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haplotype

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set of linked genetic markers that are generally inherited as a unit to track transmission of disease causing alleles; pinpoint where located

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restriction map

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determines the relative positions of and distances between restriction sites on a piece of DNA: digest DNA with restriction enzymes, show smaller fragments produced by cuts; gel to determine order

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STS mapping

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marker is a short unique sequence of DNA whose location in the genome is unknown; goal to identify and sequence overlapping clones

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clone-by-clone sequencing

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map based sequencing clean; fragments in order then sequenced

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shotgun sequencing

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messy and scatters lots of DNA and deals with afterwards; fragments sequenced then put in order based on overlapping sequence

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HGP

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sequencing DNA-assembled-annotation for protein encoding genes from other databases- gene expression proteome

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proteome

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study of the proteome (complete set of proteins present in a cell); begin by characterizing complete set of mRNAs present in a cell transcriptosome

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proteomics

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discover all proteins produced and determine functions

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comparative genomics

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sequence the genomes of other organisms, in order to compare similar genes between species; multifactorial?

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Haplotype map

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individual SNPs found by comparing individuals; look for blocks of SNPs inherited together; tightly linked SNPs constitute haplotype; only portion of SNPs in a haplotype need to be determined to identify; if linked to disease then identifying can be diagnostic

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population genetics

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study of variation and inheritance within populations; use mathematical models and experimental techniques to answer questions: prevention of extinction and variation and adaptation

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genetic variation

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amount determines a population's potential to adapt to its environment

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Hardy-Weinberg Law

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population is large, randomly mating, and not affected by migration, mutation, or natural selection, then allelic frequences and genotypic frequencies will not change; if in eqiulibrium, reproduction alone will not alter

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genotypic frequency

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proportion of a population that has a particular genotype: #individuals with genotype/total # individuals (sum of all =1)

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allelic frequency

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proportion of the gene pool represented by a particular allele frequency of big T allele: in a apopulation #/total: alleles are what is passed on

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P

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dominant allele for Hardy-weinberg

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Q

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recessive allele for hardy-weinberg

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Hardy-weinberg equilibrium

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allelic frequencies: p+q=1; genotypic frequencies: p2 q2 and 2pq with assumption it is at equilibrium

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Allelic Frequency from Genotype Number

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2(#homozygousdominant)+#heterozygotes/2(total number of individuals); for q use recessive

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Chi Square Hardy-Weinberg

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df= # genotypes -# alleles

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H-W to estimate allelic frequencies

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q2 = .0005; q= sq. root = .02; p=.98; f(carriers) =2pq = .0392

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nonrandom mating

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inbreeding; self fertilization

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gene flow

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migration; individuals or gametes move from one population to another; reduces genetic divergence among populations; m=population of migrants; (qdonor-qrecessive)m=Qnew

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genetic drift

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statistical accidents; random fluctuation in allele frequencies increases as population size decreases; random change due to change; sampling error due to small population, founder effect, bottleneck effect

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mutation

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ultimate source of variation; so rarely that not alone changes frequency

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selection

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only agent that produces adaptive evolutionary changes

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assortative mating

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tendency for like individuals to mate

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disassortive mating

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tendency for unlike individuals to mate

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heterozygote advantage (balanced polymorphism)

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heterozygotes appear to be protected against fungal infections in PKU and not enough to cause symptoms but enough to inactive fungal toxin that is lethal

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sarkosyl

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breaks membrane in lab for lac operon

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ONPG

answer

phosphate that changes color when reacts with b-galac

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nucleotide excision repair

answer

fixes UV light repair, etc.

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