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Genes And Genomics > Genome Duplication > Flashcards

Genome Duplication Flashcards

1
Q

How big is the human genome

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2
Q

What is the c paradox

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3
Q

What are the percentages of coding and non coding dna in the human genome

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4
Q

What’s one way for new genes to evolve

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5
Q

What is the impact of gene duplication

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6
Q

What are pseudogenes

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7
Q

What are paralogues

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8
Q

What are orthologues

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9
Q

What is concerted evolution

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10
Q

Why is gene duplication good

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11
Q

What is sub functionalisation of genes

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12
Q

What is meant by synteny

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13
Q

Give the history of the study of genome sequencing

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14
Q

What are the 2 human genome projects

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15
Q

What did Craig venter do

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16
Q

What was the results of the 2 human genome projects

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17
Q

What does ENCODE do

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18
Q

What are the different elements that make up the human genome

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19
Q

How do we infer conservation of genomic elements across species?

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20
Q

What are orthologues good for

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21
Q

What does conservation in coding gene sequences imply

A

Implies conservation in functionality

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22
Q

Does conserved cis regulatory elements mean conserved function

A

No it does not mean conserved function

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23
Q

What does the fact that enhancers with conserved sequences across species may not always have the same function show

A

The majority of human enhancers has
functionality NOT conserved across mammals

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24
Q

How similar are human and chimp genomes

A

98% similar

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25
Q

How similar are human and mice genomes

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26
Q

What is LUCA

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27
Q

What are molecular clocks and what are the used for

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28
Q

What an rate of mutation info be used for

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29
Q

What is the mitochondrial eve

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30
Q

How can a genome acquire new genes

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31
Q

How can gene duplication occur during dna replication

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32
Q

Explain trypsin and chymotrypsin as an example of subfunctionalism

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33
Q

Name the two types of pseudogenes

A

Non processed pseudogenes
Processed pseudogenes

34
Q

Explain what is meant by non processed pseudogenes

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35
Q

Explain what is meant by processed pseudogenes

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36
Q

Give an example of psuedogenes

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37
Q

What are multigene families *

A

Multigene families are groups of related genes within an organism’s genome that share a common origin and often similar DNA sequences. These genes likely arose from a single ancestral gene that duplicated over evolutionary time

38
Q

What are HOX transcription factors main role

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39
Q

What is the homeodomain of HOX proteins

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40
Q

Where is the normal antennapedia gene expressed

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Insects have one cluster of Hox genes (8 genes)

41
Q

What can a mutation is the antennapedia gene cause + homeotic meaning

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42
Q

What are the two gene clusters that the 8 major HOX genes (in drosophila) are found in called

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43
Q

How many HOX gene clusters do humans have

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44
Q

What can mutations in the following genes respectively cause ; HOXD13, HOXA2, HOXB1

A

Deformed toes/fingers

Deformed ears

Variable Ear, Hearing, and Skeletal/Brain Anomalies

45
Q

1) What is thought to be the HOX vertebrate common ancestor
2) What is the oldest known animal with 4 HOX gene clusters

A

2) Sea lamprey

46
Q

What effects could larger/ entire genome duplication have on an organism

A
47
Q

What is polyploidy

A

Multiple complete sets of
chromosomes

48
Q

Name the two types of polyploidy

A
  • ‘Autopolyploidy’ (‘Auto’ = same)
  • ‘Allopolyploidy’ (‘Allo’ = other)
49
Q

What is autopolyploidy

A

Autopolyploidy is a type of polyploidy (having more than two sets of chromosomes) that occurs when an organism has multiple copies of chromosomes from the same species

50
Q

What are the issues with autopolyploidy

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51
Q

What is allopolyploidy

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52
Q

What are the benefits of whole genome duplication

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53
Q

What is a locus?

A

Each gene has a locus, which is a specific position on a pair of homologous chromosomes

54
Q

What is an allele?

A

( Ignore red writing - incorrect . Meant to say chromosome. Bands on chromosome is the allele)

55
Q

What is the meanings of : genotype, heterozygous, homozygous, dominant and recessive alleles, phenotype

A

A phenotype is the physical manifestation of a genotype. (Physical trait)

56
Q

What is an SNP

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57
Q

Why are SNPs important

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58
Q

Where can SNPs occur and what is the effect of an SNP appearing in that location

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59
Q

What are the two categories that diseases associated with SNPs fall into

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60
Q

What are coding SNPs and what are the two types

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61
Q

Explain the two types of substitutions

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62
Q

What are the two types of Alzheimer’s
What alleles are associated with Alzheimer’s and their risk levels for developing Alzheimer’s

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63
Q

What are non coding SNPs

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64
Q

What is the OAS1 gene associated with

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65
Q

What could happen if a splice site is disrupted due to an SNP

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66
Q

What could indel mutations cause

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67
Q

What are Genome Wide Association Studies (GWAS)

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68
Q

How are Genome Wide Association Studies (GWAS) findings visualised

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69
Q

What are the aims of genome projects

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70
Q

What are the challenges of GWAS

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71
Q

What is meant by linkage disequilibrium and how does it relate to GWAS

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72
Q

What are eQTLs and how do they relate to GWAS

A

Integrating GWAS with gene expression data is now largely routine
The association between GWAS and eQTL identified SNPs can lead to identification of disease causing genes

73
Q

What are cis and trans eQTLs

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74
Q

Explain one way SNPs can be studied

A

Genes And Genomics (3 decks)

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