Genetics – Genetics – Flashcards
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Where rRNA is synthesized and early stages of ribosomal assumbly occur
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Nucleolus
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Nucleoli form around these areas of DNA that code for RNA
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Nucleolar organizer regions
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In bacteria, there is no distinct nucleus but there is this region which contains circular DNA molecule
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Nucleoid region
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Densely packed, genes are inert, found mainly around the centromere and telomeres
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Heterochromatin
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Less dense, active genes
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Euchromatin
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Mendel was able to deduce that there were _____ with his quantitative approach and garden peas
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Units of inheritance
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Mendel would've received a Nobel prize in this category
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Physiology and medicine
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Mendel eventually related genes to chromosomes and discovered inheritance patterns of many characters called ______
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Transmission genetics
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Paired unit factors separate or segregate randomly so that each gamete receives either one with equal chance
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Mendels first law or law of segregation
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Crossing TT or Tt in F2 generation with tt to figure out if individual is TT or Tt
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Test cross
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Replicate somatic cells, in many single called organisms such as protozoan salvage and fungi asexual reproduction takes place by this
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Mitosis
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Genetic material divided by nuclear division
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Karyokinesis
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Cytoplasm divided by nuclear division
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Cytokinesis
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Near the end of G1 some cells enter this stage which is a resting phase, cells are viable and metabolically active but not dividing
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G0
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DNA replication takes place during this phase
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S phase
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Occurs in reproductive tissue in plants and animals and results in haploid cells
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Meiosis
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Meiosis I (2n-n)
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Reductional division
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Meiosis II (n-n)
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Equational division
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Homologous chromosomes pair together or synapse
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Prophase I
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Paired dyads
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Bivalents
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2 paired dyads
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Tetrad
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Where non-sister chromatids are joined
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Chiasma
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Random alignment and later separation is basis for
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Mendels independent assortment
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Each dyad moves to one pole, disjunction
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Anaphase I
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Process by which sperm or egg form
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Gametogenesis
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3 stages of Gametogenesis
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Maturation, meiosis, and transformation
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Spermatogonial cells (oogonial cells) become primary spermatocytes (primary oocytes)
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Maturation
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primary spermatocytes (primary oocytes) to secondary spermatocytes and spermatids (secondary oocytes and ootids); polar bodies are formed for female maximizing the cytoplasm
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Meiosis
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Spermatids (ootids) turn into sperm (egg)
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Transformation
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Similar process as Gametogenesis except about sporogenesis and production or micro and macrospores
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Micro and macrogametogenesis
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Chance of all n number of paternal chromosomes going to the same pole in meiosis
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(1/2)^n
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Number of combinations of chromosomes in gametes in meiosis with n = number of chromosomes (heterozygous)
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2^n
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Plants alternate between ____ _____ and _____ _____. Meiosis and fertilization are bridges between these 2 stages
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Haploid gametophyte, diploid sporophyte
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Most important for genetic variation
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Mutation, chromosomal segregation, and recombination
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Mutant genes that produce proteins with no function at all
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Null alleles
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Mutant genes that produce enzymes that has reduced level of effectiveness
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Leaky mutations
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Genotype a that are able to produce the wild phenotype with just one wild type allele. +/m where m is a null allele and the + allele provides enough protein product for normal function
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Haplosufficient
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Genotypes where the null allele (mutant) is dominant: +/M since single wild type allele cannot provide enough product
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Haploinsufficient
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Dominant mutant may be _____ when gene product is protein composed of 2 units (polypeptides) and the mutant polypeptide bonds to the wild type polypeptide and interferes with its function. Ex: osteogenesis imperfecta brittle bone disease
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Dominant negative
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Incomplete dominance examples
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Four o'clock flowers, Tay-Sachs disease
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Examples of codominance
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AB blood group, MN blood group
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3 or more alleles segregating at a locus in a population. Ex: ABO blood system
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Multiple alleles
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When one dose is present it kills the organism. Example hunting tons disease
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Dominant lethals
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Takes two doses to kill an organism, ex: Cy/Cy curly wings in drosophila. Ay/Ay in mice dominant allele but recessive lethal, tailless in cats
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Recessive alleles
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Multiple phenotypic effects from a single gene example yellow body color in drosophila also effects body size, agouti alleles also affect size of molars in mice (quantitative trait)
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Pleiotropy
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Some conditional mutants are affected by temperature and are called ______. Mostly bc the enzyme the gene produces is most effective at certain temperatures example evening primrose produces red flowers at 23 C but white at 18 C, Siamese cats have dark fur where body temp is slightly cooler
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Temperature sensitive
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English physician Garrod studied disease called _____. People who have this cannot metabolize ______ which accumulates in fissures and is excreted in urine where oxidation occurs and turns urine black and causes darkness in cartilaginous areas like ears and nose. He added phe and tyr to diets and homogentisic acid increased. Determined that disease was inherited as simple recessive trait and hypothesized that hereditary info controls metabolism
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Alkaptonuria, homogentisic acid
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Some small homology between X and Y in humans
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Pseudoautosomal regions
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Morgan discovered white eye mutation in drosophila and reciprocal crosses gave different results. Red F x white M = all red, red M x white F = red F and white M. Hypothesized that gene color of eyes was on X chromosome and one dose of recessive was sufficient to produce mutant in males but it took 2 doses in females
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X-linkage in drosophila
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Examples of x-linkage in humans
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Color blindness, fabrys disease, hemophilia, and muscular dystrophy
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Heterogeneity sex is female not make so patterns are reversed in these two animals
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Birds, lepidopterans
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A chromosome in its replicated form
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Dyad
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Name 2 evolutionary benefits of meiosis that are not present in meiosis
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Reshuffling of homologous chromosomes and crossing over
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The fundamental Mendelian process that involves the separation of contrasting genetic elements at the same locus is called ____
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Segregation
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In what ways is sample size related to statistical testing
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By increasing sample size one increases the reliability of the statistical test and decreases the likelihood of errand pis conclusions from chance fluctuations in the data
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In a chi square analysis what condition causes one to reject the null hypothesis
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When the probability value is less than .05 X^2 > Xc
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If one is testing a goodness of fit to a 9:3:3:1 ratio ho many degrees of freedom would be associated with the chi square analysis
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3
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Assuming no crossing over between the gene in question and the centromere when do alleles segregate during meiosis
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Meiosis I when homologous chromosomes go to opposite poles
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In studies of human genetics usually a single individual brings the condition to the attention of a scientist or physician. When pedigrees are developed to illustrate transmission of the trait what term does one use to refer to this individual?
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Proband
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A chromosome in its replicated form
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Dyad
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Compute chi square value
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Sum of (O-E)^2/E
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Segregating pairs of unit factors assort independently of each other
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Independent assortment of Mendels second law
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Performed simple crosses and rediscovered Mendels work in 1900
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Correns, DeVries, and Tschermak
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AABBCC x aabbcc product of F2 generation
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27:9:9:9:3:3:3:1 8 different phenotypes 27 different genotypes
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Can get pure lines that are homozygous at all loci through _____ or other forms of inbreeding. This reduced heterozygosity by 1/2 each generation
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Selfing
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Can use pure lines to produce hybrids by crossing them because hybrids show ______
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Hybrid vigor or heterosis
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Inheritance of traits that you have to measure rather than count. Weight, height, length of femur
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Quantitative traits or polygenic traits
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Polygenic or quantitative traits are controlled by a number of genes called
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Polygenes or quantitative trait loci QTL
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Suggests that many genes act in a cumulative way to produce phenotype
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Multiple-factor hypothesis
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Crossed red and white wheat strains and obtained an F1 with intermediate color and F2 into 5 different color categories. 1:4:6:4:1
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Nilsson-Ehle
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Under what conditions does one expect a 1:1:1:1 ratio?
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AaBb x aabb
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What conditions are likely to apply if the progeny from the cross AaBb x AaBb appear in the 9:3:3:1 ratio?
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Complete dominance, independent assortment, no gene interaction
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Alleles at genetic loci act by producing molecules typically enzymes in ______
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Biosynthetic pathways
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Alleles at genetic loci act by leading to growth and differentiation in _______
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Developmental pathways
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Alleles at genetic loci act by act in _______ that transmit instructions from an extracellular signal (chemical, hormone, etc.) that activates a protein that eventually turns on/off genes
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Signal transduction pathways
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Studied neurospora fungus eventually led to one-gene-one-enzyme hypothesis later refined to one polypeptide. They induced mutations via x-rays that caused them to be unable to grow on minimal medium but would when supplemented with vitamins such as B-1
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Beadle and Tatum
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Studied 7 mutant strains in neurospora and were able to construct partial biochemical pathway leading to synthesis of arginine. 4 mutants blocked precursor to ornithine rxn 2 mutants ornithine to citrulline and 1 citrulline to arginine
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Srb and Horowitz
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Phenotypes often controlled by more than one locus so genes can interact in various ways to produce a given character
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Gene interaction
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To detect gene interactions need to form _______ to see if they interact with each other in producing phenotype. Must know what each mutant does and make sure separate mutants are not just alleles of the same gene
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Double mutants
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See whether 2 different mutants are the same. Cross 2 mutants and if wild type is produced in F1 then mutants are complementing each other and are at different loci. Cross F1 generation to get double mutants if no gene interaction then expect 9:3:3:1 ratio with double mutant 1/16
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Complementation test (cis/trans test)
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Each mutant allele controls a different step in the same pathway. Both dominant alleles are necessary for purple color in harebell. Either or both mutants produce white phenotype, epistasis
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9:7
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Occurs when genes at different loci control the expression of the same character. When alleles prevent expression of others they are said to be epistatic whereas alleles at second locus which are masked are said to be hypostatic to alleles at first locus ex blue eyed Mary plant, Labrador retrievers
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Recessive epistasis 9:3:4
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Foxglove phenotype with petal color affects intensity of pigment, dark red or light red, and another where pigment is deposited, throat vs petals,
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Dominant epistasis 12:3:1
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Some genes suppress action of others so if have mutant it reverts to wild type in presence of a suppressor gene at another locus ex purple eye color in drosophila
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Suppression 13:3
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When genes that are transferred to a different location on the chromosome act differently especially is gene is located in heterochromatin region
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Position effects
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Autosomal recessive causes this lethal disease that does not show for the first few months but children die by age 3
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Tay-Sachs
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X linked recessive disorder not seen until 3-5 years usually die in 20s
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Duchenne muscular dystrophy DMD
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Autosomal dominant not seen until 30-50 years
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Huntingtons disease
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Mutant gene does not always fully express phenotype, percentage of individuals expressing mutant caused by environment, suppressor or epistatic genes
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Incomplete Penetrance
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Expresses variability of phenotypic expression
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Expressivity
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Ratio from mono hybrid cross with incomplete dominance
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1:2:1
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AaBb x AaBb is made in which gene loci are autosomal, independently assorting, and incompletely dominant what phenotypic ratio would you expect from this cross
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1:2:1:2:4:2:1:2:1
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Regarding the ABO blood group system in humans if an individual is genetically IBIO yet expressed the O blood type it is likely that they have the ______ genotype
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hh (Bombay)
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If a cross yields a 15:1 ratio the phenotype with 15/16 probability is produced by the interaction of
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Two dominant genes at different loci
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Cock feathering in chickens is an example of what kind of trait?
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Sex-limited
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In drosophila male flies that are hemizygous for forked bristles a recessive sex linked gene have normal bristles if they are hemizygous for another recessive gene known as su-f. What does this illustrate?
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Importance of genetic environment
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When 2 genes fail to assort independently the term normally applied is
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Linkage
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The phenomenon in which one cross over increases the likelihood of crossovers in nearby regions is called
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Negative interference
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Hershey chase experiment offered evidence in support of DNA being the genetic material in bacteriophages by labeling
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Phosphorus and sulfur
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Enzyme that deals with synthesis of DNA from an RNA template
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Reverse transcriptase
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What type of bonds hold one complementary strand to the other in double stranded DNA
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Hydrogen
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Deoxyribose and nitrogenous base
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Nucleoside
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In Hershey and chase experiment why was the pellet radioactive in the centrifuge tube that contained bacteria with viruses which had been grown on medium containing 32P
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The bacteria were in the pellet and many contained the radioactive viral DNA
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Frederick griffiths experiments involving bacterium diplococcus pneumoniae demonstrated that a substance from one bacterial strain could genetically transform other bacterial strains. What was the name of the substance capable of such transformation and who determined its identity?
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Deoxyribonucleic acid Avery et al
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DNA polymerase III add nucleotides to the
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3' end of the RNA primer
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DNA polymerase I is thought to add nucleotides
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In place of the primer RNA after it is removed
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DNA replication in prokaryotes
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Fixed point of initiation bidirectional semi conservative
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Determined DNA replication in E. coli is semiconservative by supplying 15N in order to distinguish new from old DNA, one band seen after one generation of replication and 2 bands after two generations of replication, more dense 15N near bottom at equilibrium
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Meselson and stahl
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To initiate DNA replication in vitro kornberg used
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DNA polymerase, 4 deoxyribonucleoside triphosphates & DNA template
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In eukaryotic DNA synthesis a gap in DNA synthesis from the lagging stand template created by removal of the primer in this region is solved by
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Telomerase which adds repeats that form a hairpin loop that fills the gap and allows synthesis
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All such mutations in bacteria are generally expressed directly because
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Bacteria are haploid
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Bacteria that cannot grow in a minimal medium. They have lost the ability to synthesize one or more organic compounds
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Autotrophs
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Bacteria that can grow in minimal medium
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Prototroph
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Bacteria growth at first is slow
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Lag phase
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Period of rapid growth for bacteria
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Log phase
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No additional growth occurs in bacteria 10^9 cells/mL
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Stationary phase
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performed experiment with 2 auxotrophic e coli strains with F+ and F- factor
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Lederburg and Tatum
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performed interrupted mating experiment with Hfr x F- to show genes were transferred in a specific order, linear but different direction each time, showed chromosome was circular and being cut
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wollman and jacob
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F factor not transferred bc its at the end, forms a merozygote which consists of endogenote, one complete genome, and one partial genome, exogenote. exogenote must integrate to be expressed which happens only by double or even number of cross over
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Hfr x F-
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F plasmid is integrated into genome
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Hfr
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F plasmid is independent of genome
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F+
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with genome passing linearly we can map the genome by
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minutes
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when F factor leaves genome and goes into cytoplasm and takes part of bacterial genome
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F'
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can pass F factor and bacterial genes from another bacteria, creates partial diploid called merozygote
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F' x F-
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uses sex pilus
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conjugation
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bacteria takes up extracellular pieces of DNA from the environment, binds at a receptor site on a competent bacteria cell, pass into cell via active transport, 1 of 2 strands of DNA is degraded and other pairs with homologous region which it replaces, get heteroduplex since strands are not identical
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transformation
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in transformation, after replication you get 2 different cells
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one with original genotype and one with transformed genes
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genes on DNA that get transformed are close to each other and said to be _________ and can establish relative mapping distances
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linked
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phage attacks bacteria, bacteria replication shuts down and phage dna replication occurs and make new phages, discovered by regular crosses of auxotrophic mutants where bacterial cells did not have contact, one had prophage and one didnt, prophage broke from chromosome became lytic and infected the other bacterial cell with some of the dna it took from the first bacterial cell
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transduction
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cell is lysed when 200 phages are made and lysozome bursts cell, clear areas where they get out is called plaque
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lytic cycle (lysis)
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dna from phage integrates onto chromosome (prophage)
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lysogenic cycle (lysogeny)
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can only lyse the cell
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virulent phage
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can lyse cell or act as prophage
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temperate phage
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viral dna that can replicate in the cytoplasm or as part of bacterial chromosome
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episome
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any region of the bacterial chromosome is mistakenly packaged
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generalized transduction
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DNA integrates into bacterial genome and can replicate with it
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complete transduction
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DNA does not integrate into genome and cannot replicate but is passed down from one cell to the next
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abortive transduction
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specific genes such as gal are transduced, makes merozygotes
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specialized transduction
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recombination in phages produce mutants with larger plaque and clear edges
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rapid lysis (r)
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T2 phages can infect E. coli B (normal) but with this mutant they can infect E. coli B-2 causing center of plaques to appear darker
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host range (h) mutation
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how to find recombination frequency in phages,
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% recombinant plaques/ total plaques
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h+r and hr+ allow 2 mutants to simultaneously infect bacteria
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mixed infections
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more doubles than expected on random chance in mixed infections of phages
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negative interference
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did experiment on rII locus recombination of t4 phage, mutants at this locus produced distict plaques when grown on B bacteria but cannot grow on K bacteria, mixed 2 r mutants together in B and allowed them to grow and then plated them on K to let them grow therefore since they grew on K they complemented each other
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Benzer
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benzer eventually used deletions for recombination testing, when crossed point mutation in area of deletion with deletion mutant would not recombine as WT, so know mutation is in area of deletion, used overlapping deletions to narrow mutation site, many deletion sites now known as nucleotides, this was referred to as the _______
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fine structure analysis
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genetic material must be capable of:
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replication during meiosis/mitosis, storage of hereditary info, expression of info, mutation,
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central dogma of molecular genetics
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DNA makes mRNA makes proteins
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prokaryote studies of virulent (smooth) streptococcus and avirulent (rough), living S = mouse dies, heat killed S = mouse lives, living R into mice = mouse lives, living R with heat-killed S = mouse dies, called this tranformation
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griffith
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follow up griffiths work, S strain extract into mouse with polysaccharides, lipids, RNA, and protein all destroyed mouse dies and live S strain recovered. but when DNA destroyed mouse lived and no live S strain recovered
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avery et al
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used radioisotopes 32P and 35S in T2 phage, P incorporated into DNA and S into protein with phage in presence of bacteria P was inside bacteria and most of S was outside
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hershey chase
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number of ways to arrange nucleotides
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4^n, n = number of nucleotides
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studied x-ray diffraction and proposed DNA structure, rosalind franklin found pattern
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watson and crick
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concluded wrong that DNA was triple helix
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linus pauling
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U replaces T, single stranded, can fold back to form double strand regions
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RNA
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measures sedimentation of RNA determined by size and shape
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svedburg coefficient S
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largest RNA makes up ____% of RNA in cell
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rRNA, 80
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length of DNA that is replicated following one initiation at a single origin (in bacteria is entire chromosome)
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replicon
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discovered DNA polymerase I
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kornberg
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DNA polymerase I and II have 3' to 5' exonuclease activity which allows them to cut out the wrong nucleotide and synthesis can proceed
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exonuclease proofreading
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differences in eukaryotic replication compared to prokaryotic
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have multiple replication origins (many replicons), have a number of DNA polymerases, special process for replication at end of chromosome
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origins of replicating segments of yeast (250-400 replicons) consist of 11 base pairs flanked by short sequences
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automonously replicating sequences ARSs
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6 types of DNA polymerase in eukaryotes
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3 for DNA replication, 2 for DNA repair, 1 for synthesis of mitochondrial DNA
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special process for replication at end of chromosome
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primer produced at end of chromosome has no OH to build on so shortens by one length of RNA primer so telomerase carries a short RNA molecule so primase can add primer and fill gap
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telomerase in a protozoan
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contains its own RNA of 159 bases including complementary ones and behaves like reverse transcriptase synthesizing a DNA complement
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without telomeres
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double stand ends of chromosomes would be mistaken for double strand breaks by the cell and attempts would be made to repair these by fusing or stopping cell division
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cancer cells maintain
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telomerase and allow cell to divide
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people have shorter telomeres bc of mutation in WRN gene that codes for a helicase that is part of the telomere cap structure, causes premature aging
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werner syndrome
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labeled uracil in RNA was found mostly in cytoplasm
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pulse-chase experiments
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template strand
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antisense strand
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nontemplate strand
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sense strand/coding strand
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initiation is dependent on _____, or cis-acting elements (TATA 30 elements upstream) and (CAAT -80 upstream) general transcription factors, necessary for recognition by RNA polymerase
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promoters
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trans-acting factors, proteins known as transcription factors (TFIIA, TFIIB)
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enhancers
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RNA polymerase recognizes transcription factors and binds to promoter to form
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preinitiation complex
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pre-mRNA has 7mG cap added to 5' end to prevent degradation and essential for translation and cleavage of 3' end 10 to 35 nucleotides form a conserved AAUAA and addition of a polyA tail, 150-200 As added (all done in nucleus)
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cotranscriptional modification or processing
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foudn with spliceosome during splicing
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snRNA
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rare introns form a ribozyme that perform function of spliceosome, RNA first genetic material, RNA world
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self-splicing
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encodes a small RNA rather than protein that produced mutant phenotype, repress expression of genes, produced from genes that make longer DNA fold in half and cleaved into 22 nucleotide products, repress translation, or promote degredation by removing poly A tail
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miRNA micro
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double strand RNA formed that repressed mRNA and results in gene silencing first found in C elegans roundworm 35 nucleotides in length
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siRNA
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special subunit of RNA polymerase in prokaryotes that recognizes and binds to the promoter region
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sigma factor
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protein synthesis took place in
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cytoplasm at ribosomes
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regions of specific AA sequences that are associated with specific functions in protein molecules
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protein domains
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used enzyme tryptophan shynthetase from e coli and isolated mutants and matched them turned out to be same order as altered amino acids: colinearity
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yanosky
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used in vitro protein synthesizing system and polynucleotide phosphorylase which allowed production of synthetic mRNAs, enzyme required no DNa template unlike polymerase, created poly U strands and found phe matched
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nirrenburg and matthaei
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wobble hypothesis several tRNAs with different anticodons may attract same AA
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crick
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stop codons
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UAG, UAA, UGA
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AA code for same in all species, except UGA codes for tryptophan in mtDNA or Mycoplasma capricolum or some protozoans
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universal code
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AA binds to tRNA to begin charging under direction of
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aminoacyl tRNA synthetases
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complete set of proteins produced by genes in an organism, many more proteins than genes bc of alternative splicing and posttranslational modifications
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proteome
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proteins assume a 3D configuration with chaperones, phosphorylation phosphate added to OH group by kinases removed by phosphatases, addition of multiple copies of protein ubiquitin that targets for protein degradation for short-lived damaged or mutated proteins, change in N-termal to signal sequence used for protein targeting
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posttranslational modifications