Chapter 21: Genomes and their evolution Flashcards

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1
Q

when was the human genome published

A

2006

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2
Q

what is the goal of the human genome project

A

complete the nucleotide sequence

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3
Q

when did the human genome project begin

A

1990

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4
Q

who invented the whole genome shotgun approach

A

J. Craig Venter

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5
Q

what was the whole-genome approach?

A
  • cut the DNA into overlapping fragments
  • clone the fragments in plasmid
  • sequence
  • order the sequences into one sequence
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6
Q

how are newer techniques of sequencing beneficial

A
  • they are faster paced and have a lowered cost of genome sequencing
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7
Q

what do next generation cloning techniques not requ

A

a cloning step

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8
Q

what is genomics

A

the study of whole sets of genes and their interactions

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9
Q

what information can comparing genes give us

A

provide insight into evolution and their biological processes

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10
Q

what is bioinformatics

A

storage, analysis and distribution of biological data, most often DNA and amino acid sequences

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11
Q

what does NLM stand form

A

national library of medicine

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12
Q

what does NIH stand for

A

National institutes of Health

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13
Q

who maintains the NCBI

A

NLM and NIH

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14
Q

what is GenBank

A

the NCBI data base of sequences that is constantly updated

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15
Q

what does the NCBI blast allow software users to search for

A
  • specfic dna sequence
  • protein sequence
  • common stretches of amino acids
  • 3D protein structures
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16
Q

what can the NCBI give insight on

A

common stretches of amino acidcs

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17
Q

what is proteomics

A

studying large sets of proteins

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18
Q

what is a proteome

A

entire set of proteins expressed by a cell or group of cells

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19
Q

what have scientists begun to compile in systems bio

A

catalogs of genes and proteins

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20
Q

what is systems biology

A

the computer software that is used to map genes and to produce a functional map of their interactions

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21
Q

how can geneticists study genes directly

A

using available DNA sequences

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22
Q

what is gene annotation

A

the identification of protein-coding genes within DNA sequences in a database

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23
Q

what do the computers search in the protein

A
  • translational start and stop signals
  • RNA splicing sites
  • promotor sequences
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24
Q

what can help provide clues about a proteins function

A

comparing sequences of unknown genes with those of known genes

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25
Q

how can you show the gene function is altered

A

knocking out the function

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26
Q

who published the pan cancer atlas

A

the cancer genome atlas project in 2018

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27
Q

what was the pan cancer atlas

A
  • many interacting genes and gene products were analyzed
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28
Q

how did the pan cancer atlas contribute to medicine

A

showed how, where, and why tumors arise

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29
Q

what is used to analyze the gene expression patterns in patients with cancers or other diseases

A
  • DNA microarrays
  • silicon chips
  • RNA seq
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30
Q

why is it good to analyze what genes are overexpressed or underexpressed in cancer

A
  • allows physicians to tailor the treatment to unique genetic makeup of the patient and the caner
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31
Q

how many genes do free-living bacteria and archae

A

1500-7500 genes

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32
Q

what is not correclated to genome size

A

the number of genes

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33
Q

what species has the lowest gene density

A

humans or other mammals

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34
Q

what is gene density

A

the # of genes in a given length of DNA

35
Q

what do multicellular eukaryptes have

A
  • many introns within genes

- large amount of noncoding dna between genes

36
Q

what did sequencing of the human geneome reveal

A
  • 98.5% does not code for proteins, rRNAs or tRNAs
37
Q

what % do the gene regulatory sequences and introns account for

A

5

38
Q

what are some noncoding DNA that is found between genes

A
  • pseudogenes

- repetitive DNA

39
Q

what is a pseudogene

A

former genes that have accumulated mutations and are not functional

40
Q

what is repetitive dna

A

dna that is present in multiple copies in the genome

41
Q

what is there a high level of in noncoding genes

A

sequence conservation which suggests that these regions have important functions

42
Q

what are transposable elements

A

stretches of dna that can move from one location to another

43
Q

how much of the human dna is made up of transposable elements

A

75%

44
Q

what are the two types of transposable elements

A

transposons

retrotransposons

45
Q

what is the retrotransposon

A

move by means of rna intermediate and they use a reverse transcriptase

46
Q

what is the transposon

A

move by means of DNA intermediate and require a transposase enzyme

47
Q

what is the most abundant transposable element in the human genome

A

the retrotransposon

48
Q

what sequence does the retrotransposon contain

A

Line-1 (L1)

49
Q

what are come characteristics of the L1 sequence

A
  • low rate of transposition that can affect gene expression
50
Q

what is the basis of change at the genomic level

A

mutation

51
Q

what has happened to th esize of genomes over evolutionary time

A

they have increased, with extra genetic material providing raw material for gene diversification

52
Q

what is polyploidy and how can it be achieved

A

one or more extra sets of chromosomes

-accidents in meiosis

53
Q

what can happen to chromosomes that are polyploidy

A
  • extra sets diverge by accumulating mutations

- variations persist if the organism carrying them survives and reproduces

54
Q

what can unequal crossing during prophase 1 result in

A

one chromosome with a deletion and another with a duplication of a particular region

55
Q

what can transposable elements show

A

sites for crossover

56
Q

what do multiple copies of similar transposble element causd

A

facilitate recombination/ crossing over

57
Q

what can an insertion of transposable element w. protein coding sequence do

A

block protein production

58
Q

what can increase protein production

A

insertion of a transposable element with the regulatory sequence

59
Q

what is present in one copy per haploid set of chromosomes

A

eukaryotic genes

60
Q

what is a multigene family

A

collection of 2 or more identical or very similar genes

61
Q

what is an example of multigene families

A
  • nonidentical genes that code for globins
62
Q

what are alpha and beta globins

A

polypeptides of hemoglobin coded by genes on different human chromosomes

63
Q

how many pairs of chromosomes do humans have

A

23

64
Q

how many chromosomes do chimpanzees have

A

24 pairs

65
Q

what contributes to the generation of new species

A

chromosomal rearrangements

66
Q

what did the lysozyme gene evolve into and how

A
  • gene was duplicated and evolved into the gene that codes for alpha-lactalbumin
67
Q

what us lysozyme

A

an enzyme that protects animals against bacterial infection

68
Q

what is alpha-lactalbumin

A

nonenzymatic protein that allows for milk production in mammals

69
Q

what do comparisons of closely related species help with

A

shed light on recent evolutionary events

70
Q

what is a highly conserved gene

A

the gene that has changed very little over time

71
Q

how can highly conserved genes be studied

A

in model organisms and the results can be applied to another organism

72
Q

what genes from both mouse and human species encode the same amino acids

A

FOXP2 GENE

73
Q

what does the the foxp2 gene regulate

A

genes that function in vocalization in

vertebrates

74
Q

what is the result of a mutation of the foxp2 gene

A

produce severe language and speech impairment in humans

75
Q

what is an effect of the damaged foxp2 gene in muce

A

malformed brains and fail to emit

normal ultrasonic vocalization

76
Q

what is evolutionary development biology (Evodevo

A

compares developmental processes of

different multicellular organisms

77
Q

what has the analysis of the homeotic genes in Drosophilia shown

A
that they all include a sequence called a
a homeobox (DNA seq)
78
Q

what does the homeobox do

A

encodes genes that specify

identity of body segments of the fly

79
Q

where have similar homeobox genes been found

A

regulatory genes of yeasts and plants

80
Q

what homeotic genes in animals called

A

Hox genes

81
Q

what do homeobox genes code for

A

a domian

82
Q

what is the homeodomain

A

is the part of the protein that binds

to the DNA, where the protein functions as a transcription factor

83
Q

are homeotic genes conserved

A

yes