Lecture 7 Mutation and genetic variation
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1 Lecture 7 Mutation and genetic variation
2 Thymidine dimer
3
4 Natural selection at a single locus 2. Purifying selection a form of selection acting to eliminate harmful (deleterious) alleles from natural populations. - example: human recessive diseases like Tay- Sachs or porphyria.
5 Genetic code
6 Phylogenetic reconstructions 3. Maximum Likelihood α A G α A G α α α α β β β β C T α Jukes-Cantor Model C T α Kimura - 2 parameter Model
7 Mutation hotspots Cytochrome b
8
9 Molecular clock Emile Zuckerkandl and Linus Pauling, 1965
10
11 Synonymous substitutions v.s. Non-synonymous substitutions Ka/Ks is an indicator of selection
12 General classes of mutations Point mutations Copy-number mutations Chromosomal mutations Genome mutations
13 Point mutations There are four categories of point mutations: 1. transitions (e.g., A G, C T) 2. transversions (e.g., T A, C G) α A G β β β β C T α
14 Point mutations There are four categories of point mutations: 1. transitions (e.g., A G, C T) 2. transversions (e.g., T A, C G) 3. insertions (e.g., TTTGAC TTTCCGAC) 4. deletions (e.g., TTTGAC TTTC) in coding regions, point mutations can involve silent (synonymous) or replacement (nonsynonymous) changes. in coding regions, insertions/deletions can also cause frameshift mutations.
15 Indels are insertions and deletions STOP making sense: effective frameshifts
16 Loss of function mutations in the cystic fibrosis gene
17 Copy-number mutations
18 Copy-number mutations these mutations change the numbers of genetic elements.
19 Copy-number mutations these mutations change the numbers of genetic elements. gene duplication events create new copies of genes.
20 Copy-number mutations these mutations change the numbers of genetic elements. gene duplication events create new copies of genes. one important mechanism generating duplications is unequal crossing over.
21 Unequal crossing-over can generate gene duplications
22 Unequal crossing-over can generate gene duplications
23 Unequal crossing-over can generate gene duplications lethal? neutral?
24 Copy-number mutations these mutations change the numbers of genetic elements. gene duplication events create new copies of genes. one mechanism believed responsible is unequal crossing over. over time, this process may lead to the development of multi-gene families.
25 α and β-globin gene families Chromosome 11 Chromosome 16
26 Timing of expression of globin genes
27 Retrogenes may also be created retrogenes have identical exon structures to their progenitors but lack introns!
28 Retrogenes may also be created retrogenes have identical exon structures to their progenitors but lack introns! Example: jingwei in Drosophila yakuba
29 Retrogenes may also be created retrogenes have identical exon structures to their progenitors but lack introns! Example: jingwei in Drosophila yakuba Alcohol dehydrogenase (Adh) Chromosome 2 Chromosome 3
30 Retrogenes may also be created retrogenes have identical exon structures to their progenitors but lack introns! Example: jingwei in Drosophila yakuba Alcohol dehydrogenase (Adh) mrna Chromosome 2 Chromosome 3
31 Retrogenes may also be created retrogenes have identical exon structures to their progenitors but lack introns! Example: jingwei in Drosophila yakuba Alcohol dehydrogenase (Adh) mrna cdna Chromosome 2 Chromosome 3
32 Retrogenes may also be created retrogenes have identical exon structures to their progenitors but lack introns! Example: jingwei in Drosophila yakuba Alcohol dehydrogenase (Adh) mrna cdna jingwei Chromosome 2 Chromosome 3
33 Whole-genome data yields data on gene families
34 Copy-number mutations transposable elements (TEs) are common.
35 Copy-number mutations transposable elements (TEs) are common. three major classes of TEs are recognized:
36 Copy-number mutations transposable elements (TEs) are common. three major classes of TEs are recognized: 1. insertion sequences ( bp)
37 Copy-number mutations transposable elements (TEs) are common. three major classes of TEs are recognized: 1. insertion sequences ( bp) 2. transposons ( bp)
38 Copy-number mutations transposable elements (TEs) are common. three major classes of TEs are recognized: 1. insertion sequences ( bp) 2. transposons ( bp) 3. retroelements
39 Chromosomal inversions lock blocks of genes together
40 Changes in chromosome number are common
41 Changes in chromosome number are common Robertsonian fusions and fissions are common and can have major effects on speciation
42 Changes in chromosome number are common Robertsonian fusions and fissions are common and can have major effects on speciation in mammals, chromosome numbers range from N = 3 to N = 42.
43 Changes in chromosome number are common Robertsonian fusions and fissions are common and can have major effects on speciation in mammals, chromosome numbers range from N = 3 to N = 42. in insects, the range is from N = 1(some ants) to N = 220 (a butterfly)
44 Changes in chromosome number are common Robertsonian fusions and fissions are common and can have major effects on speciation in mammals, chromosome numbers range from N = 3 to N = 42. in insects, the range is from N = 1(some ants) to N = 220 (a butterfly) karyotypes can evolve rapidly!
45 Muntiacus reevesi Muntiacus muntjac
46 Muntiacus reevesi; N = 23 Muntiacus muntjac; N = 4
47 Genome mutations
48 Genome mutations polyploidization events cause the entire genome to be duplicated.
49 Genome mutations polyploidization events cause the entire genome to be duplicated. polyploidy has played a major role in the evolution of plants.
50 Genome mutations polyploidization events cause the entire genome to be duplicated. polyploidy has played a major role in the evolution of plants. ancient polyploidization events have also occurred in most animal lineages.
51 Generation of a tetraploid
52 Where do new genes come from?
53 Where do new genes come from? An example: the antifreeze glycoprotein (AFGP) gene in the Antarctic fish, Dissostichus mawsoni Convergent evolution of an AFGP gene in the arctic cod, Boreogadus saida
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