Ch 10: Nature of Gene and Genome Flashcards

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1
Q

Law of Segregation

A

only one of two copies of heritable factor (gene) contricuted ot offspring

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2
Q

Low of Independent Assortment

A

Segregation of one gene pair has no influence on segregation of other gene pair

(Revealed by dihybrid crosses)

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3
Q

Two types of cell division

A

mitotic (produces more cells)

meiotic (prodeces cell siwht half of chromosomes)

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4
Q

non-linked traits

A

the traits studied by Menel

Obey the law of independent assortment

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5
Q

Genetic Recombination

A

Genes onthe same chromosome do not alway segregate together (incomplete linkage)

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6
Q

What does frequency of genetic recombination depend on

A

the distance apart on the chromosome

further apart, the more likely recombinaiton events occur

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7
Q

Chromosome puff

A

Polytene chromosomes

??? know more ???

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8
Q

Griffith experiment

A

demonstrates the transformation principle

-> Bacteria uptake plasmids from their environment

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9
Q

Hershey-Chase experiment

A

used T4 bacteriophage to infect bacteria

demonstrated that DNA was the genetic material

nucleotide triphosphates labeled with p32, which is incorperratecd into DNA

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10
Q

Requirements for Genetic Material

A

storage of information: heritable instructions

self-suplicaiton and ingeritance: transmission from cell to daughter cells

Expression of genetic mateiral

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11
Q

Implications of the watson-crick model.

How do they demonstrate the 3 requirements genetic mateirla must have?

A

Storage
= proposed that base sequence endoded genes

Replicaiton
= proposed that strands could seperate and serve as templates for new synthesis

Expression
=???

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12
Q

Relaxed vs supercoiled DNA

A

Supercoiled DNA is more tightly compacted

travels faster in gel

supercoiling plays a roe in DNA replication and transcription

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13
Q

DNA supercoiling and DNA Topoisomerases

A

DNA topoisomerases can alter DNA supercoiling

DNA Topo-I cuts one strant adn permits relaxation

DNA Topo-II cuts both strands adn passes other region of DNA through break

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14
Q

Reactions catalyzed by topoisomerases

A

1) supercoiling relaxation
2) Knotting/ unknotting
3) Catenation of DNA molecules (and decatenation)

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15
Q

GC contents and genome complexity

A

Genome complecity can be partially determined by DNA denaturation

GC content determines melting temperature (3x h-bonds), and the higher the GC content, the higher the melting temperature

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16
Q

Does single stranded or double stranded DNA absorb stronger at 260nm UV

A

ssDNA

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17
Q

AT rich DNA regions

A

intergenic// non-coding DNA ???

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18
Q

Three classes of DNA in the eukaryotic genome

A

Highly repeated

moderately repeated

nonrepeated (unique)

19
Q

Highly repetitive DNA

A

satellite, minisatellite, microsatellite DNAs

20
Q

Moderately repeated DNA

A

tRNA and rRNA genes

21
Q

nonrepeated (unique) DNA

A

DNA coding for single genes

22
Q

Satellite DNA

A

monomer length from several to several hundred bp

large clusters of up to millions of base pairs

normally localized o centromeric and telomeric regions of the chromosoems

23
Q

Minisatellite DNA

A

monomer repeates from 12 to 100 bp

clustered repeats up to 3000 monomers per cluster

repeat length varies between individuals

24
Q

Microsatellite DNA

A

simple sequence repeats (1-5 bp)

small slusters of 50-100 bp

scattered through genome

highly variable between individuals

  • > monomer repeat number varies
  • > used for population of forensic studies
25
Q

Satallite DNA function

A

CenP-B sequence in human satellite DNA binds CEN-B protiens to help for the kinetochore

Uniformity of satellite DNA length
=may be related to nucleosome phasing (every 200 bp you have a nucleosome)
= helps with DNA organization

Satellite DNA transcription
=may form ribozymes
-initiate histone H3 methylation
=heterochromatization

26
Q

Evolution of Satelite DNAs

A

see slides

Mutations in satellite monomer can bind mutated centromeric protien.

homogenization over time could lead to change in chromosome structure

27
Q

See slides for in situ hybridization and satellite DNA

A

found that satellite DNA is at the centromere?/

28
Q

Two categories of Triplet expansion diseases

A

Type I = CAG repeat (neurodegenerative)
=coding regions of genes

Type II = variety of repeats
=non-coding regions of genes

29
Q

Huntington’s Disease

A

neurodegenerative (type i Triplet expansion)

Huntington gene normally has 6-35 copies of CAG repeat (polyglutamine)

Affected individuals have more than 35 copies

huntington protein forms aggregates

dominant genetic disorder

exhibits genetic anticipation
=severity increases from genertion to generation

30
Q

Fragile X syndrome

A

Type two triplet expansion disease

Normal gene has 5-55 copies of CGG FMR1 gene (function unknown)

carriers have 60-200 repeats

affected individuals have more than 200 repeats

X-chromosome highly unstable (fragile)

loss of function mutation

31
Q

Genome stability

A

gene duplicaiton has three fates

diverge and acquire new function

diverge and one loses function (pseudogene)

both copies retain same function

genes can duplicate by unequal crossing over, a mitotic event where there is a slight missalignment of chromosomes

32
Q

How can a whole genome duplicate?

i.e. diploid to polyploid

A

2n to 4n

conversion of haploid gamates to diploid gamated

this can occur during a non-dysjunction even from mitosis (chromosome homologs do not separate and both copies go to the same cell)

33
Q

What are the three fates of gene duplication

A

nonfuctionialization (psuedogene)

neofunctionialization (new gene)

subfunctionialization (wonky gene, change of spatial or temporal expression)

34
Q

Gene orthologues

A

same gen in two different species

gene is seperated by speciation

35
Q

Gene paralogues

A

two genes (duplicted) in the same organism

may be in a differnt location

2nd copy can eventually take up a new function

36
Q

Transposable elements

A

inverted repeats at either end of the transposon
= recognized by transposase enz

Direct repeats generated in target DNA

Usually integrate (jump) randomly into new part of genome
= can disrupt genes (cause mutations)
37
Q

nonreplicative transposition

A

cut and paste pathway

38
Q

Replicative transposition

A

Have their own origin of replication [regular DNA pol] ???

39
Q

Retrotransposon

A

capy and paste pathway that goes through an RNA intermediate

40
Q

P-elements

A

eild-encoded viral transposons that were transfered to wild type Drosofilla

Morgans original stocks did not have P-elements

Flies descended from wild caught strains have P-elements

41
Q

Funciton of transposable elements

A

form part of some gene regulatory regions

can combine genes to form novel genes or novel functions

sometime evolve into function genes like the telomerase gene, an enzyme in germline cells that is used to extend telomeres

42
Q

Look up lcture video on sequencing and mapping genomes???

A

CH 10

jan 15

43
Q

SNPs and gene mapping

A

may be useful as makers

approx 3 million SNPs in the human genome

if found in coding regions they may affect the funciton of the gene (may be assiciated or linked with disease)

used in haplotype maps

44
Q

SNPs and alzheimers

A

Apolipprotien (ApoE) gene has two SNPS

thre total alleles each differ by one nucleotide

E2 (cys112 and cys158)
E3 (cys112 and arg158)
E4 (arg112 and arg158)

individuals wiht at least one E4 allele are prone to alzheimers

individuals with E2 allele are less prone to aquiring alzheimers