9 Natural Selection, Genetic Variation, and Human Diversity
233
Perry GH, Dominy NJ, Claw KG et al (2007) Diet and the evolution of human amylase gene copy
number variation. Nat Genet 39:1256–1260. https://doi.org/10.1038/ng2123
Pickrell JK, Coop G, Novembre J et al (2009) Signals of recent positive selection in a worldwide
sample of human populations. Genome Res 19:826–837. https://doi.org/10.1101/gr.087577.108
Pritchard JK, Pickrell JK, Coop G (2010) The genetics of human adaptation: hard sweeps,
soft sweeps, and polygenic adaptation. Curr Biol 20:R208–R215. https://doi.org/10.1016/
j.cub.2009.11.055
Przeworski M (2002) The signature of positive selection at randomly chosen loci. Genetics
160:1179–1189
Przeworski M, Coop G, Wall JD (2005) The signature of positive selection on standing genetic
variation. Evolution 59:2312–2323
Quintana-Murci L, Barreiro LB (2010) The role played by natural selection on Mendelian traits in
humans. Ann N Y Acad Sci 1214:1–17. https://doi.org/10.1111/j.1749-6632.2010.05856.x
Ramachandran S, Deshpande O, Roseman C (2005) Support from the relationship of genetic and
geographic distance in human populations for a serial founder effect originating in Africa. Proc
Natl Acad Sci 102:15942–15947
Reed FA, Akey JM, Aquadro CF (2005) Fitting background-selection predictions to levels of
nucleotide variation and divergence along the human autosomes. Genome Res 15:1211–1221.
https://doi.org/10.1101/gr.3413205
Ronald J, Akey JM (2005) Genome-wide scans for loci under selection in humans. Hum Genomics
2:113–125
Sabeti PC, Reich DE, Higgins JM et al (2002) Detecting recent positive selection in the human
genome from haplotype structure. Nature 419:832–837. https://doi.org/10.1038/nature01140
Sabeti PC, Varilly P, Fry B et al (2007) Genome-wide detection and characterization of positive
selection in human populations. Nature 449:913–918. https://doi.org/10.1038/nature06250
Santiago E, Caballero A (2005) Variation after a selective sweep in a subdivided population.
Genetics 169:475–483. https://doi.org/10.1534/genetics.104.032813
Scheinfeldt LB, Tishkoff SA (2010) Living the high life: high-altitude adaptation. Genome Biol
11:133. https://doi.org/10.1186/gb-2010-11-9-133
Scheinfeldt LB, Soi S, Thompson S et al (2012) Genetic adaptation to high altitude in the Ethiopian
highlands. Genome Biol 13:R1. https://doi.org/10.1186/gb-2012-13-1-r1
Schierup MH, Charlesworth D, Vekemans X (2000) The effect of hitch-hiking on genes linked to
a balanced polymorphism in a subdivided population. Genet Res 76:63–73
Schroeder SA, Gaughan DM, Swift M (1995) Protection against bronchial asthma by CFTR F508
mutation: a heterozygote advantage in cystic fibrosis. Nat Med 1:703–705. https://doi.org/
10.1038/nm0795-703
Slatkin M, Wiehe T (1998) Genetic hitch-hiking in a subdivided population. Genet Res 71:155–160
Stajich JE, Hahn MW (2005) Disentangling the effects of demography and selection in human
history. Mol Biol Evol 22:63–73. https://doi.org/10.1093/molbev/msh252
Stephan W (2010) Genetic hitchhiking versus background selection: the controversy and its
implications. Philos Trans R Soc Lond Ser B Biol Sci 365:1245–1253. https://doi.org/10.1098/
rstb.2009.0278
Storz JF, Payseur BA, Nachman MW (2004) Genome scans of DNA variability in humans reveal
evidence for selective sweeps outside of Africa. Mol Biol Evol 21:1800–1811. https://doi.org/
10.1093/molbev/msh192
Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585–595
Tang K, Thornton KR, Stoneking M (2007 Jul) A new approach for using genome scans to detect
recent positive selection in the human genome. PLoS Biol 5(7):e171. https://doi.org/10.1371/
journal.pbio.0050171.
Tennessen JA, Akey JM (2011) Parallel adaptive divergence among geographically diverse human
populations. PLoS Genet 7:e1002127. https://doi.org/10.1371/journal.pgen.1002127
Tennessen JA, Madeoy J, Akey JM (2010) Signatures of positive selection apparent in a small
sample of human exomes. Genome Res 20:1327–1334. https://doi.org/10.1101/gr.106161.110
233
Perry GH, Dominy NJ, Claw KG et al (2007) Diet and the evolution of human amylase gene copy
number variation. Nat Genet 39:1256–1260. https://doi.org/10.1038/ng2123
Pickrell JK, Coop G, Novembre J et al (2009) Signals of recent positive selection in a worldwide
sample of human populations. Genome Res 19:826–837. https://doi.org/10.1101/gr.087577.108
Pritchard JK, Pickrell JK, Coop G (2010) The genetics of human adaptation: hard sweeps,
soft sweeps, and polygenic adaptation. Curr Biol 20:R208–R215. https://doi.org/10.1016/
j.cub.2009.11.055
Przeworski M (2002) The signature of positive selection at randomly chosen loci. Genetics
160:1179–1189
Przeworski M, Coop G, Wall JD (2005) The signature of positive selection on standing genetic
variation. Evolution 59:2312–2323
Quintana-Murci L, Barreiro LB (2010) The role played by natural selection on Mendelian traits in
humans. Ann N Y Acad Sci 1214:1–17. https://doi.org/10.1111/j.1749-6632.2010.05856.x
Ramachandran S, Deshpande O, Roseman C (2005) Support from the relationship of genetic and
geographic distance in human populations for a serial founder effect originating in Africa. Proc
Natl Acad Sci 102:15942–15947
Reed FA, Akey JM, Aquadro CF (2005) Fitting background-selection predictions to levels of
nucleotide variation and divergence along the human autosomes. Genome Res 15:1211–1221.
https://doi.org/10.1101/gr.3413205
Ronald J, Akey JM (2005) Genome-wide scans for loci under selection in humans. Hum Genomics
2:113–125
Sabeti PC, Reich DE, Higgins JM et al (2002) Detecting recent positive selection in the human
genome from haplotype structure. Nature 419:832–837. https://doi.org/10.1038/nature01140
Sabeti PC, Varilly P, Fry B et al (2007) Genome-wide detection and characterization of positive
selection in human populations. Nature 449:913–918. https://doi.org/10.1038/nature06250
Santiago E, Caballero A (2005) Variation after a selective sweep in a subdivided population.
Genetics 169:475–483. https://doi.org/10.1534/genetics.104.032813
Scheinfeldt LB, Tishkoff SA (2010) Living the high life: high-altitude adaptation. Genome Biol
11:133. https://doi.org/10.1186/gb-2010-11-9-133
Scheinfeldt LB, Soi S, Thompson S et al (2012) Genetic adaptation to high altitude in the Ethiopian
highlands. Genome Biol 13:R1. https://doi.org/10.1186/gb-2012-13-1-r1
Schierup MH, Charlesworth D, Vekemans X (2000) The effect of hitch-hiking on genes linked to
a balanced polymorphism in a subdivided population. Genet Res 76:63–73
Schroeder SA, Gaughan DM, Swift M (1995) Protection against bronchial asthma by CFTR F508
mutation: a heterozygote advantage in cystic fibrosis. Nat Med 1:703–705. https://doi.org/
10.1038/nm0795-703
Slatkin M, Wiehe T (1998) Genetic hitch-hiking in a subdivided population. Genet Res 71:155–160
Stajich JE, Hahn MW (2005) Disentangling the effects of demography and selection in human
history. Mol Biol Evol 22:63–73. https://doi.org/10.1093/molbev/msh252
Stephan W (2010) Genetic hitchhiking versus background selection: the controversy and its
implications. Philos Trans R Soc Lond Ser B Biol Sci 365:1245–1253. https://doi.org/10.1098/
rstb.2009.0278
Storz JF, Payseur BA, Nachman MW (2004) Genome scans of DNA variability in humans reveal
evidence for selective sweeps outside of Africa. Mol Biol Evol 21:1800–1811. https://doi.org/
10.1093/molbev/msh192
Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585–595
Tang K, Thornton KR, Stoneking M (2007 Jul) A new approach for using genome scans to detect
recent positive selection in the human genome. PLoS Biol 5(7):e171. https://doi.org/10.1371/
journal.pbio.0050171.
Tennessen JA, Akey JM (2011) Parallel adaptive divergence among geographically diverse human
populations. PLoS Genet 7:e1002127. https://doi.org/10.1371/journal.pgen.1002127
Tennessen JA, Madeoy J, Akey JM (2010) Signatures of positive selection apparent in a small
sample of human exomes. Genome Res 20:1327–1334. https://doi.org/10.1101/gr.106161.110