Topic 3 - chapter 9 Flashcards

(41 cards)

1
Q

How can we better understand how genes have evolved from first cells?

A

by comparing nucleotide or amino acids sequences of contemporary organisms

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2
Q

How can genetic variation can be increased? Eg’s?

A

by altering nucleotide sequences of genomes such as:

  • mutations
  • gene duplications
  • exon shuffling
  • horizontal transfer (mainly prokaryotes)
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3
Q

How are point mutations caused? Eg?

A

Page 301…by failures of the normal mechanisms that copy and maintain DNA
Eg mutant E. coli (can’t grow in absence of his) -> stop codon (mRNA) -> add histidine to culture -> bacteria multiply -> mutations -> rare colony of his cells that can grow in absence of his

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4
Q

Examples of point mutation having effect on ‘fitness’…

A
lactase persistence (mutation) -> lactose tolerance
RBC surface receptor mutation -> anti-malarial
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5
Q

What gives rise to families of related genes? How?

A

DNA duplications via unequal crossing over between homologous chromosomes - statistically rare but are a certainty in billions & billions of cell divisions it took to form all different species from a common ancestor

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6
Q

Give an example of molecular evolution using gene duplication

A

evolution of the globin gene family including haemoglobin via gene duplication & divergence -> proteins tailored to an organism & its development

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7
Q

Give eg of whole genome duplication

A

Xenopus frog species (frog twice as big as the one previous)

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8
Q

What are exons also known as?

A

the ‘fixed’ building blocks for proteins

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9
Q

T or F - new genes can be created by repeating the same exon

A

true

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10
Q

How is the evolution of new proteins thought to have worked?

A

facilitated by swapping exons (exon shuffling) between genes -> hybrid proteins -> new functions

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11
Q

Some ‘prime’ examples of new proteins from existing protein domains…?

A

EGF -> chymotrypsin -> urokinase -> factor IX -> plasminogen

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12
Q

What are mobile genetic elements? what do they frequentyl cause?

A

parasitic DNA sequences that colonise genome & spread within it -> often disrupt function or alter regulation of genes (can even create novel genes)
frequently cause “spontaneous” mutations

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13
Q

Example of mobile genetic element at work…

A

Drosophila melanogaster (fruit fly) when inserted in a gene that should be silenced -> activate gene -> legs where antennae should be

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14
Q

What is horizontal gene transfer?

A

bacteria sex - conjugation - is the transfer of DNA from donor cell to recipient cell via sex pilus

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15
Q

Molecular change is … while natural selection is …?

A

random and progressive

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16
Q

What is the significance between Islands of Conserved DNA Sequence?

A

They indicate functionally important regions of DNA

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17
Q

Examples of similar gene clusters in mouse & human…

A

globin clusters (human Alu & L1, mouse B1 & L1)

18
Q

How much of the human genome is highly conserved compared to other genomes?

19
Q

T or F - vertebrate DNA gain and lose DNA slowly over time

A

false - rapidly

20
Q

What is interesting about the Fugu huntington gene? What does this confirm?

A

same number of exons as the human version just shorter introns - confirms that exons are more conserved than introns

21
Q

What does sequence conservation allow us to find out? E.g?

A

trace the most distant evolutionary relationships - the more important genes are for fundamental cellular processes, the more they are conserved
small subunit of rRNA similar in different organisms

22
Q

What % of the human genome is exons?

23
Q

What is the DNA length in the human genome (nucleotide pairs)?

24
Q

Number of genes in the human genome? (approx)

25
The bulk of the human genome is made up of ... sequences?
repeated
26
What gives an idea of positions of genes in a known sequence?
Open reading frames
27
Individual humans differ from one another how? SNP equivalent?
avg 1 nucleotide pair in every 1000 ~ 2.5million SNPs streches of DNA (added or deleted)
28
Point mutations change what?
regulation of a gene
29
Re. genetic variations, define mutation within a gene
gene modification by changing single nucleotides or delete or duplicate one or more nucleotides. Can alter activity or stability of a protein, change its location in a cell or affect its interactions with other proteins
30
Re. genetic variations, define mutation within regulatory DNA of a gene
genes in organism A & B code for same set of regulatory proteins but regulatory DNA controlling expression of the proteins is different eg. humans and fish
31
Re. genetic variations, define gene duplication
where a gene, larger segment of DNA or whole genome can be duplicated -> set of closely related genes in a single cell eg. Xenopus frog
32
Re. genetic variations, define exon shuffling
two or more existing genes can be broken and rejoined -> hybrid gene containing DNA segments originally belonged to seperate genes
33
Re. genetic variations, define horizontal gene transfer
piece of DNA transferred from genome of one cell to that of another (even to another species) common among prokaryotes rare in eukaryotes
34
What can gene duplication and divergence over many millions of years do? 2 Eg's
...allow one gene to give rise to a whole family of genes, each with a specialised function within a single genome Eg. Bacillus subtilis
35
An example of molecular evolution...
evolution of haemoglobin via gene duplication
36
What is a phylogenic tree?
evolutionary relationship between different species by looking at nucleotide/genetic changes over time
37
Last common ancestor of all higher primates occurred how long ago? % nucleotide substitution?
~ 15 million years ago | 1.5%
38
Last common ancestor of human and chimp? % nucleotide substitution?
5-6 million years ago | double 0.6% = ~1.2%
39
Functionally important gene (island of conserved DNA sequences) examples
mouse & human globin gene clusters
40
What is the 'tree of life'?
based on the DNA sequence that codes for a small ribosomal subunit RNA
41
What is the human genome sequence?
refers to complete nucleotide sequence of the DNA in a human cell - the 'mean' of a number of individuals