Title: Phylogeography
1PhylogeographyDemography
2Phylogeography
- The geographical distribution of organisms from a
phylogenetic/evolutionary perspective.
3Phylogeography
4Phylogeography
5Phylogeography
6Phylogeography
7Phylogeography
8Human mitochondrial DNA
9Problem I - mutation
10Problem I - mutation
11Problem I - mutation
12Problem I - mutation
A
B
C
D
Haplogroup
13Haplotypes haplogroups
Haplotype 1 C T G A A T G C C A A T Haplotype
1 C T G A A T G C C A A T Haplotype 2 C T T
A A T G C C A T T Haplotype 3 C T G A A T A C C
A A T Haplotype 4 C T G C A T A C C G A
T Haplotype 3 C T G A A T A C C A A T
Haplo- group X
14Nomenclature - mtDNA
- Africa - L haplogroup
- Non-Africans - M and N haplogroups
- Sub-groups M C, D, E, G M
- N A, B, F, H, I, J, K, R,
T, U V
15Nomenclature - Y chromosome
- NRY non-recombining Y
- Haplogroups A to R
- Africa - A B
- Africa and non-africa - all others
16Haplotypes haplogroups
Haplotype 1 C T G A A T G C C A A T Haplotype
1 C T G A A T G C C A A T Haplotype 2 C T T
A A T G C C A T T Haplotype 3 C T G A A T A C C
A A T Haplotype 4 C T G C A T A C C G A
T Haplotype 3 C T G A A T A C C A A T
Haplo- group X
17Haplotypes haplogroups
18Example - Andaman Islands
19Example - Andaman Islands
- Inhabited by aboriginal people
- Short stature
- Dark skin
- Little contact with outsiders
- Come from
- Africa?
- Asia?
20Two studies
- Thangaraj et al.
- Typed mtDNA Y-chromosome in Andaman islanders
- Endicott et al.
- Sequenced mtDNA from Victorian bone collections
21Y-chromosome
22mtDNA
23Problem II - loss of variation
24Problem II - loss of variation
25Problem II - loss of variation
26Problem II - loss of variation
27Solution
28Demography
29Allele frequency distribution
Human1 C T G A A T G C C A A T G T C G Human2
C T G A A T G C C A A T G T C G Human3 C T T A
A T G C C A T T G T C G Human4 C T G A A T A C
C A T T G C C G Human5 C T G C A T A C C G A T
G C C G Human6 C T G A A T A C C A A T G T C G
1
2
3
30expansion
1
2
3
1
2
3
contraction
1
2
3
31Contraction - bottleneck
Human1 C T G A A T G C C A A T G T C G Human2
C T G A A T G C C A A T G T C G Human3 C T T A
A T G C C A T T G T C G Human4 C T G A A T A C
C A T T G C C G Human5 C T G C A T A C C G A T
G C C G Human6 C T G A A T A C C A A T G T C G
1
2
3
1
2
3
32Demographic model
Parameters No start popn size Nint popn after
bottleneck Nrec final popn size T time back to
bottleneck fint Nint / No frec Nrec / No T
Nrec
No
Population size
Nint
T
Time
33Simulate data
fint 1 frec 1 T 0
34Simulate data
fint 0.1 frec 1 T 0.1
35A more complex model
N1
N2
m1
m2
No
36Further reading
- Jobling Human evolutionary genetics Chapters 6
9