232
L. S. Emery and J. M. Akey
Lamason RL, Mohideen M-APK, Mest JR et al (2005) SLC24A5, a putative cation exchanger,
affects pigmentation in zebrafish and humans. Science 310:1782–1786. https://doi.org/10.1126/
science.1116238
Lappalainen T, Salmela E, Andersen PM, Dahlman-Wright K, Sistonen P, Savontaus ML,
Schreiber S, Lahermo P, Kere J (2010 Apr) Genomic landscape of positive natural selection
in Northern European populations. Eur J Hum Genet 18(4):471–478. https://doi.org/10.1038/
ejhg.2009.184
Lewontin RC, Krakauer J (1973) Distribution of gene frequency as a test of the theory of the
selective neutrality of polymorphisms. Genetics 74:175–195
Li J, Li H, Jakobsson M et al (2012) Joint analysis of demography and selection in population
genetics: where do we stand and where could we go? Mol Ecol 21:28–44. https://doi.org/
10.1111/j.1365-294X.2011.05308.x
Lohmueller KE, Albrechtsen A, Li Y et al (2011a) Natural selection affects multiple aspects of
genetic variation at putatively neutral sites across the human genome. PLoS Genet 7:e1002326.
https://doi.org/10.1371/journal.pgen.1002326
Lohmueller KE, Bustamante CD, Clark AG (2011b) Detecting directional selection in the
presence of recent admixture in African Americans. Genetics 187:823. https://doi.org/10.1534/
genetics.110.122739
López Herráez D, Bauchet M, Tang K, Theunert C, Pugach I, Li J, Nandineni MR, Gross A, Scholz
M, Stoneking M (2009 Nov 18) Genetic variation and recent positive selection in worldwide
human populations: evidence from nearly 1 million SNPs. PLoS One 4(11):e7888. https://
doi.org/10.1371/journal.pone.0007888.
McVicker G, Gordon D, Davis C, Green P (2009) Widespread genomic signatures of
natural selection in hominid evolution. PLoS Genet 5:e1000471. https://doi.org/10.1371/
journal.pgen.1000471
Meyer D, Thomson G (2001) How selection shapes variation of the human major histocompatibility complex: a review. Ann Hum Genet 65:1–26
Mou C, Thomason HA, Willan PM et al (2008) Enhanced ectodysplasin-A receptor (EDAR)
signaling alters multiple fiber characteristics to produce the East Asian hair form. Hum Mutat
29:1405–1411. https://doi.org/10.1002/humu.20795
Neel JV (1962) Diabetes mellitus: a “thrifty” genotype rendered detrimental by “progress”? Am J
Hum Genet 14:353–362
Nielsen R (2005) Molecular signatures of natural selection. Annu Rev Genet 39:197–218. https://
doi.org/10.1146/annurev.genet.39.073003.112420
Nielsen R, Williamson S, Kim Y et al (2005) Genomic scans for selective sweeps using SNP data.
Genome Res 15:1566–1575. https://doi.org/10.1101/gr.4252305
Nielsen R, Hellmann I, Hubisz M et al (2007) Recent and ongoing selection in the human genome.
Nat Rev Genet 8:857–868. https://doi.org/10.1038/nrg2187
Nielsen R, Hubisz MJ, Hellmann I, Torgerson D, Andrés AM, Albrechtsen A, Gutenkunst R,
Adams MD, Cargill M, Boyko A, Indap A, Bustamante CD, Clark AG (2009 May) Darwinian
and demographic forces affecting human protein coding genes. Genome Res 19(5):838–849.
https://doi.org/10.1101/gr.088336.108.
Oleksyk TK, Zhao K, De La Vega FM, Gilbert DA, O’Brien SJ, Smith MW (2008 Mar
5) Identifying selected regions from heterozygosity and divergence using a light-coverage
genomic dataset from two human populations. PLoS One 3(3):e1712. https://doi.org/10.1371/
journal.pone.0001712.
O’Reilly PF, Birney E, Balding DJ (2008) Confounding between recombination and selection,
and the Ped/Pop method for detecting selection. Genome Res 18:1304–1313. https://doi.org/
10.1101/gr.067181.107
Olds LC, Sibley E (2003) Lactase persistence DNA variant enhances lactase promoter activity
in vitro: functional role as a cis regulatory element. Hum Mol Genet 12:2333–2340. https://
doi.org/10.1093/hmg/ddg244
Payseur BA, Cutter AD, Nachman MW (2002) Searching for evidence of positive selection in the
human genome using patterns of microsatellite variability. Mol Biol Evol 19:1143–1153
L. S. Emery and J. M. Akey
Lamason RL, Mohideen M-APK, Mest JR et al (2005) SLC24A5, a putative cation exchanger,
affects pigmentation in zebrafish and humans. Science 310:1782–1786. https://doi.org/10.1126/
science.1116238
Lappalainen T, Salmela E, Andersen PM, Dahlman-Wright K, Sistonen P, Savontaus ML,
Schreiber S, Lahermo P, Kere J (2010 Apr) Genomic landscape of positive natural selection
in Northern European populations. Eur J Hum Genet 18(4):471–478. https://doi.org/10.1038/
ejhg.2009.184
Lewontin RC, Krakauer J (1973) Distribution of gene frequency as a test of the theory of the
selective neutrality of polymorphisms. Genetics 74:175–195
Li J, Li H, Jakobsson M et al (2012) Joint analysis of demography and selection in population
genetics: where do we stand and where could we go? Mol Ecol 21:28–44. https://doi.org/
10.1111/j.1365-294X.2011.05308.x
Lohmueller KE, Albrechtsen A, Li Y et al (2011a) Natural selection affects multiple aspects of
genetic variation at putatively neutral sites across the human genome. PLoS Genet 7:e1002326.
https://doi.org/10.1371/journal.pgen.1002326
Lohmueller KE, Bustamante CD, Clark AG (2011b) Detecting directional selection in the
presence of recent admixture in African Americans. Genetics 187:823. https://doi.org/10.1534/
genetics.110.122739
López Herráez D, Bauchet M, Tang K, Theunert C, Pugach I, Li J, Nandineni MR, Gross A, Scholz
M, Stoneking M (2009 Nov 18) Genetic variation and recent positive selection in worldwide
human populations: evidence from nearly 1 million SNPs. PLoS One 4(11):e7888. https://
doi.org/10.1371/journal.pone.0007888.
McVicker G, Gordon D, Davis C, Green P (2009) Widespread genomic signatures of
natural selection in hominid evolution. PLoS Genet 5:e1000471. https://doi.org/10.1371/
journal.pgen.1000471
Meyer D, Thomson G (2001) How selection shapes variation of the human major histocompatibility complex: a review. Ann Hum Genet 65:1–26
Mou C, Thomason HA, Willan PM et al (2008) Enhanced ectodysplasin-A receptor (EDAR)
signaling alters multiple fiber characteristics to produce the East Asian hair form. Hum Mutat
29:1405–1411. https://doi.org/10.1002/humu.20795
Neel JV (1962) Diabetes mellitus: a “thrifty” genotype rendered detrimental by “progress”? Am J
Hum Genet 14:353–362
Nielsen R (2005) Molecular signatures of natural selection. Annu Rev Genet 39:197–218. https://
doi.org/10.1146/annurev.genet.39.073003.112420
Nielsen R, Williamson S, Kim Y et al (2005) Genomic scans for selective sweeps using SNP data.
Genome Res 15:1566–1575. https://doi.org/10.1101/gr.4252305
Nielsen R, Hellmann I, Hubisz M et al (2007) Recent and ongoing selection in the human genome.
Nat Rev Genet 8:857–868. https://doi.org/10.1038/nrg2187
Nielsen R, Hubisz MJ, Hellmann I, Torgerson D, Andrés AM, Albrechtsen A, Gutenkunst R,
Adams MD, Cargill M, Boyko A, Indap A, Bustamante CD, Clark AG (2009 May) Darwinian
and demographic forces affecting human protein coding genes. Genome Res 19(5):838–849.
https://doi.org/10.1101/gr.088336.108.
Oleksyk TK, Zhao K, De La Vega FM, Gilbert DA, O’Brien SJ, Smith MW (2008 Mar
5) Identifying selected regions from heterozygosity and divergence using a light-coverage
genomic dataset from two human populations. PLoS One 3(3):e1712. https://doi.org/10.1371/
journal.pone.0001712.
O’Reilly PF, Birney E, Balding DJ (2008) Confounding between recombination and selection,
and the Ped/Pop method for detecting selection. Genome Res 18:1304–1313. https://doi.org/
10.1101/gr.067181.107
Olds LC, Sibley E (2003) Lactase persistence DNA variant enhances lactase promoter activity
in vitro: functional role as a cis regulatory element. Hum Mol Genet 12:2333–2340. https://
doi.org/10.1093/hmg/ddg244
Payseur BA, Cutter AD, Nachman MW (2002) Searching for evidence of positive selection in the
human genome using patterns of microsatellite variability. Mol Biol Evol 19:1143–1153