human population genetics
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Human Population Genetics. Human population migrations. Out of Africa, Replacement Single mother of all humans (Eve) ~150,000yr Single father of all humans (Adam) ~70,000yr Humans out of Africa ~40000 years ago replaced others (e.g., Neandertals ) Evidence: mtDNA , Y chromosome

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human population migrations
Human population migrations
  • Out of Africa, Replacement
    • Single mother of all humans (Eve) ~150,000yr
    • Single father of all humans (Adam) ~70,000yr
    • Humans out of Africa ~40000 years ago replaced others (e.g., Neandertals)
    • Evidence: mtDNA, Y chromosome
  • Multiregional Evolution
    • Fossil records show a continuous change of morphological features
    • Proponents of the theory doubt mtDNA and other genetic evidence
why humans are so similar
Why humans are so similar

A small population that interbred reduced the genetic variation

Out of Africa ~ 40,000 years ago

Out of Africa

migration of humans1
Migration of Humans

http://info.med.yale.edu/genetics/kkidd/point.html

migration of humans3
Migration of Humans

http://info.med.yale.edu/genetics/kkidd/point.html

some key definitions
Some Key Definitions

Mary: AGCCCGTACG

John: AGCCCGTACG

Josh: AGCCCGTACG

Kate: AGCCCGTACG

Pete: AGCCCGTACG

Anne: AGCCCGTACG

Mimi: AGCCCGTACG

Mike: AGCCCTTACG

Olga: AGCCCTTACG

Tony: AGCCCTTACG

G/G

G/G

G/T

G/G

G/G

G/G

G/G

T/T

T/G

T/G

Mom

Dad

Recombinations:

At least 1/chromosome

On average ~1/100 Mb

  • Heterozygosity:
  • Prob[2 alleles picked at random with replacement are different]
      • 2*.75*.25 = .375
  • H = 4Nu/(1+4Nu)

Alleles: G, T

Major Allele: G

Minor Allele: T

Linkage Disequilibrium:

The degree of correlation between two SNP locations

fixation positive negative selection
Fixation, Positive & Negative Selection

How can we detect negative selection?

How can we detect positive selection?

Negative Selection

Neutral Drift

Positive Selection

conservation and human snps
Conservation and Human SNPs

Neutral

CNS

CNSs have fewer SNPs

SNPs have shifted allele frequency spectra

how can we detect positive selection
How can we detect positive selection?

Ka/Ks ratio:

Ratio of nonsynonymous to

synonymous substitutions

Very old, persistent, strong positive selection for a protein that keeps adapting

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