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Mitochondrial and Y-chromosome : Who do your genes come from? 28 July 2010.

Joe Felsenstein

Evening At The

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.1/39 Evolutionary trees from molecular sequences

from Amrine-Madsen, H. et al., 2003, Molecular Phylogenetics and Evolution

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.2/39 My ancestor?

Charles the Great born 747 (Charlemagne)

about 44 more generations

1850s Cornelia John Maud William Itzhak Jacob 1880s Helen Will Sheimdel Lev 1910s Eleanor Jake 1942 Joe

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.3/39 Crossing over (recombination)

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.4/39 Did someone at General Motors take a biology course?

The GMC Hybrid logo.

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.5/39 Chromosome 1, back up one lineage

−6 (none) −5 −4 −3 −2 −1 now

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.6/39 The “mitochondrial Eve” study in 1987

Rebecca Cann, , and the late . In 1987 they made a molecular tree of mitochondria from .

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.7/39 One female ancestor? of what? When? Where?

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.8/39 The “Out Of ” hypothesis

Europe Asia

(vertical scale is not time or evolutionary change) Africa

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.9/39 “Scientists find Eve”

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.10/39 Who was where when Out Of Africa happened?

Africa Asia Europe now

100k H. sapiens H. neanderthalis

H. heidelbergensis

H. ergaster H. erectus

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.11/39 The Y chromosome

A genealogical tree of Y chromosome types, recent version, “growing” downwards. Geographical origin of the populations is color-coded along the bottom.

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.12/39 What about all the other parts of the genome?

Part of the genome bases protein genes 16,569 13 Human Y chromosome 60,000,000 45 All other human chromosomes 3,300,000,000 20,000 - 25,000

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.13/39 One generation of a (small) population

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.14/39 ... and its parent generation

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.15/39 Where do the copies of the genes come from?

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.16/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.17/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.18/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.19/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.20/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.21/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.22/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.23/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.24/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.25/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.26/39 Coalescent genealogy for one gene

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.27/39 Untangling the crossed lines ...

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.28/39 Genealogy of a sample of 3 copies

Time

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.29/39 J. F. C. Kingman’s (1982) “coalescent”

Go back a random length of time, drawn from an exponential distribution with mean 4N/(k(k − 1)) Join a random pair of lineages Reduce k by 1. If k = 1 then stop Otherwise go up to first step.

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.30/39 An accurate analogy: Bugs In A Box

There is a box ...

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.31/39 An accurate analogy: Bugs In A Box

with bugs that are ...

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.32/39 An accurate analogy: Bugs In A Box

... hyperactive ...

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.33/39 An accurate analogy: Bugs In A Box

... indiscriminate ...

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.34/39 An accurate analogy: Bugs In A Box

... voracious ...

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.35/39 An accurate analogy: Bugs In A Box

Gulp!

... (eats other bug) ...

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.36/39 An accurate analogy: Bugs In A Box

... and insatiable.

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.37/39 A typical locus showing SNP variation

(From Debbie Nickerson’s SeattleSNPs project). Single-nucleotide polymorphisms (SNPs) at the Matrix Metalloproteinase 3 locus.

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.38/39 Members of our lab Current members Mary Kuhner Jon Yamato Elizabeth Walkup Bob Giansiracusa Jim McGill Brendan O’Fallon Recent members, sadly departed Lucian Smith Chul Joo Kang Eric Rynes Ian Robertson

Mitochondrial Eve and Y-chromosome Adam: Who do your genes come from? – p.39/39