9 Natural Selection, Genetic Variation, and Human Diversity
229
Ahmed ZM, Riazuddin S, Ahmad J et al (2003) PCDH15 is expressed in the neurosensory
epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Hum Mol Genet 12:3215–3223. https://doi.org/10.1093/hmg/ddg358
Akey JM (2009) Constructing genomic maps of positive selection in humans: where do we go from
here? Genome Res 19:711–722. https://doi.org/10.1101/gr.086652.108
Akey JM, Zhang G, Zhang K et al (2002) Interrogating a high-density SNP map for signatures of
natural selection. Genome Res 12:1805–1814. https://doi.org/10.1101/gr.631202
Akey JM, Eberle MA, Rieder MJ et al (2004) Population history and natural selection
shape patterns of genetic variation in 132 genes. PLoS Biol 2:e286. https://doi.org/10.1371/
journal.pbio.0020286
Allison AC (1954) Protection afforded by sickle-cell trait against subtertian malareal infection. Br
Med J 1:290–294
Altshuler D, Pollara VJ, Cowles CR et al (2000) An SNP map of the human genome generated
by reduced representation shotgun sequencing. Nature 407:513–516. https://doi.org/10.1038/
35035083
Amato R, Pinelli M, Monticelli A et al (2009) Genome-wide scan for signatures of human
population differentiation and their relationship with natural selection, functional pathways and
diseases. PLoS One 4:e7927. https://doi.org/10.1371/journal.pone.0007927
Andrés AM, Hubisz MJ, Indap A et al (2009) Targets of balancing selection in the human genome.
Mol Biol Evol 26:2755–2764. https://doi.org/10.1093/molbev/msp190
Babbitt CC, Warner LR, Fedrigo O et al (2011) Genomic signatures of diet-related shifts during
human origins. Proc R Soc B Biol Sci 278:961–969
Bhatia G, Patterson N, Pasaniuc B, Zaitlen N, Genovese G, Pollack S, Mallick S, Myers S, Tandon
A, Spencer C, Palmer CD, Adeyemo AA, Akylbekova EL, Cupples LA, Divers J, Fornage M,
Kao WH, Lange L, Li M, Musani S, Mychaleckyj JC, Ogunniyi A, Papanicolaou G, Rotimi
CN, Rotter JI, Ruczinski I, Salako B, Siscovick DS, Tayo BO, Yang Q, McCarroll S, Sabeti P,
Lettre G, De Jager P, Hirschhorn J, Zhu X, Cooper R, Reich D, Wilson JG, Price AL (2011 Sep
9) Genome-wide comparison of African-ancestry populations from CARe and other cohorts
reveals signals of natural selection. Am J Hum Genet 89(3):368–381. https://doi.org/10.1016/
j.ajhg.2011.07.025.
Bamshad M, Wooding S, Salisbury BA, Stephens JC (2004) Deconstructing the relationship
between genetics and race. Nat Rev Genet 5:598–609. https://doi.org/10.1038/nrg1401
Barbujani G, Colonna V (2010) Human genome diversity: frequently asked questions. Trends
Genet 26:285–295. https://doi.org/10.1016/j.tig.2010.04.002
Barbujani G, Magagni A, Minch E, Cavalli-Sforza LL (1997) An apportionment of human DNA
diversity. Proc Natl Acad Sci 94:4516–4519
Barreiro LB, Laval G, Quach H et al (2008) Natural selection has driven population differentiation
in modern humans. Nat Genet 40:340–345. https://doi.org/10.1038/ng.78
Beall CM, Decker MJ, Brittenham GM et al (2002) An Ethiopian pattern of human adaptation to high-altitude hypoxia. Proc Natl Acad Sci 99:17215–17218. https://doi.org/10.1073/
pnas.252649199
Bersaglieri T, Sabeti PC, Patterson N et al (2004) Genetic signatures of strong recent positive
selection at the lactase gene. Am J Hum Genet 74:1111–1120. https://doi.org/10.1086/421051
Bigham AW, Mao X, Mei R et al (2009) Identifying positive selection candidate loci for highaltitude adaptation in Andean populations. Hum Genomics 4:79–90
Biswas S, Akey JM (2006) Genomic insights into positive selection. Trends Genet 22:437–446.
https://doi.org/10.1016/j.tig.2006.06.005
Bryk J, Hardouin E, Pugach I et al (2008) Positive selection in east Asians for an EDAR
allele that enhances NF-kappaB activation. PLoS One 3:e2209. https://doi.org/10.1371/
journal.pone.0002209
Cai Z, Camp NJ, Cannon-Albright L, Thomas A (2011 Jun) Identification of regions of positive
selection using Shared Genomic Segment analysis. Eur J Hum Genet 19(6):667–671. https://
doi.org/10.1038/ejhg.2010.257
229
Ahmed ZM, Riazuddin S, Ahmad J et al (2003) PCDH15 is expressed in the neurosensory
epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Hum Mol Genet 12:3215–3223. https://doi.org/10.1093/hmg/ddg358
Akey JM (2009) Constructing genomic maps of positive selection in humans: where do we go from
here? Genome Res 19:711–722. https://doi.org/10.1101/gr.086652.108
Akey JM, Zhang G, Zhang K et al (2002) Interrogating a high-density SNP map for signatures of
natural selection. Genome Res 12:1805–1814. https://doi.org/10.1101/gr.631202
Akey JM, Eberle MA, Rieder MJ et al (2004) Population history and natural selection
shape patterns of genetic variation in 132 genes. PLoS Biol 2:e286. https://doi.org/10.1371/
journal.pbio.0020286
Allison AC (1954) Protection afforded by sickle-cell trait against subtertian malareal infection. Br
Med J 1:290–294
Altshuler D, Pollara VJ, Cowles CR et al (2000) An SNP map of the human genome generated
by reduced representation shotgun sequencing. Nature 407:513–516. https://doi.org/10.1038/
35035083
Amato R, Pinelli M, Monticelli A et al (2009) Genome-wide scan for signatures of human
population differentiation and their relationship with natural selection, functional pathways and
diseases. PLoS One 4:e7927. https://doi.org/10.1371/journal.pone.0007927
Andrés AM, Hubisz MJ, Indap A et al (2009) Targets of balancing selection in the human genome.
Mol Biol Evol 26:2755–2764. https://doi.org/10.1093/molbev/msp190
Babbitt CC, Warner LR, Fedrigo O et al (2011) Genomic signatures of diet-related shifts during
human origins. Proc R Soc B Biol Sci 278:961–969
Bhatia G, Patterson N, Pasaniuc B, Zaitlen N, Genovese G, Pollack S, Mallick S, Myers S, Tandon
A, Spencer C, Palmer CD, Adeyemo AA, Akylbekova EL, Cupples LA, Divers J, Fornage M,
Kao WH, Lange L, Li M, Musani S, Mychaleckyj JC, Ogunniyi A, Papanicolaou G, Rotimi
CN, Rotter JI, Ruczinski I, Salako B, Siscovick DS, Tayo BO, Yang Q, McCarroll S, Sabeti P,
Lettre G, De Jager P, Hirschhorn J, Zhu X, Cooper R, Reich D, Wilson JG, Price AL (2011 Sep
9) Genome-wide comparison of African-ancestry populations from CARe and other cohorts
reveals signals of natural selection. Am J Hum Genet 89(3):368–381. https://doi.org/10.1016/
j.ajhg.2011.07.025.
Bamshad M, Wooding S, Salisbury BA, Stephens JC (2004) Deconstructing the relationship
between genetics and race. Nat Rev Genet 5:598–609. https://doi.org/10.1038/nrg1401
Barbujani G, Colonna V (2010) Human genome diversity: frequently asked questions. Trends
Genet 26:285–295. https://doi.org/10.1016/j.tig.2010.04.002
Barbujani G, Magagni A, Minch E, Cavalli-Sforza LL (1997) An apportionment of human DNA
diversity. Proc Natl Acad Sci 94:4516–4519
Barreiro LB, Laval G, Quach H et al (2008) Natural selection has driven population differentiation
in modern humans. Nat Genet 40:340–345. https://doi.org/10.1038/ng.78
Beall CM, Decker MJ, Brittenham GM et al (2002) An Ethiopian pattern of human adaptation to high-altitude hypoxia. Proc Natl Acad Sci 99:17215–17218. https://doi.org/10.1073/
pnas.252649199
Bersaglieri T, Sabeti PC, Patterson N et al (2004) Genetic signatures of strong recent positive
selection at the lactase gene. Am J Hum Genet 74:1111–1120. https://doi.org/10.1086/421051
Bigham AW, Mao X, Mei R et al (2009) Identifying positive selection candidate loci for highaltitude adaptation in Andean populations. Hum Genomics 4:79–90
Biswas S, Akey JM (2006) Genomic insights into positive selection. Trends Genet 22:437–446.
https://doi.org/10.1016/j.tig.2006.06.005
Bryk J, Hardouin E, Pugach I et al (2008) Positive selection in east Asians for an EDAR
allele that enhances NF-kappaB activation. PLoS One 3:e2209. https://doi.org/10.1371/
journal.pone.0002209
Cai Z, Camp NJ, Cannon-Albright L, Thomas A (2011 Jun) Identification of regions of positive
selection using Shared Genomic Segment analysis. Eur J Hum Genet 19(6):667–671. https://
doi.org/10.1038/ejhg.2010.257