9 Natural Selection, Genetic Variation, and Human Diversity
231
Hawks J, Wang ET, Cochran GM et al (2007) Recent acceleration of human adaptive evolution.
Proc Natl Acad Sci 104:20753–20758. https://doi.org/10.1073/pnas.0707650104
Hermisson J, Pennings P (2005) Soft sweeps: molecular population genetics of adaptation from
standing genetic variation. Genetics 169:2335–2352
Hernandez RD, Kelley JL, Elyashiv E et al (2011) Classic selective sweeps were rare in recent
human evolution. Science 331:920–924. https://doi.org/10.1126/science.1198878
Hinds DA, Stuve LL, Nilsen GB et al (2005) Whole-genome patterns of common DNA variation
in three human populations. Science 307:1072–1079. https://doi.org/10.1126/science.1105436
Huerta-Sanchez E, DeGiorgio M, Pagani L et al (2013) Genetic signatures reveal high-altitude
adaptation in a set of ethiopian populations. Mol Biol Evol 30:1877–1888. https://doi.org/
10.1093/molbev/mst089
Huertas-Vazquez A, Plaisier CL, Geng R et al (2010) A nonsynonymous SNP within PCDH15 is
associated with lipid traits in familial combined hyperlipidemia. Hum Genet 127:83–89. https:/
/doi.org/10.1007/s00439-009-0749-z
Ingram CJE, Mulcare CA, Itan Y et al (2009) Lactose digestion and the evolutionary genetics of
lactase persistence. Hum Genet 124:579–591. https://doi.org/10.1007/s00439-008-0593-6
International HapMap Consortium (2005) A haplotype map of the human genome. Nature
437:1299–1320. https://doi.org/10.1038/nature04226
International HapMap Consortium, Frazer KA, Ballinger DG et al (2007) A second generation
human haplotype map of over 3.1 million SNPs. Nature 449:851–861. https://doi.org/10.1038/
nature06258
International HapMap 3 Consortium (2010) Integrating common and rare genetic variation in 822
diverse human populations. Nature 467:52–58
Johansson A, Gyllensten U (2008 Jun) Identification of local selective sweeps in human populations since the exodus from Africa. Hereditas 145(3):126–137. https://doi.org/10.1111/j.00180661.2008.02054.x
Jones BL, Raga TO, Liebert A et al (2013) Diversity of lactase persistence alleles in Ethiopia:
signature of a soft selective sweep. Am J Hum Genet 93:538–544. https://doi.org/10.1016/
j.ajhg.2013.07.008
Jorde LB, Watkins WS, Bamshad MJ et al (2000) The distribution of human genetic diversity: a
comparison of mitochondrial, autosomal, and Y-chromosome data. Am J Hum Genet 66:979–
988. https://doi.org/10.1086/302825
Kaessmann H, Wiebe V, Weiss G, Pääbo S (2001) Great ape DNA sequences reveal a reduced
diversity and an expansion in humans. Nat Genet 27:155–156. https://doi.org/10.1038/84773
Kayser M, Brauer S, Stoneking M (2003) A genome scan to detect candidate regions influenced
by local natural selection in human populations. Mol Biol Evol 20:893–900. https://doi.org/
10.1093/molbev/msg092
Kelley JL, Madeoy J, Calhoun JC et al (2006) Genomic signatures of positive selection in
humans and the limits of outlier approaches. Genome Res 16:980–989. https://doi.org/10.1101/
gr.5157306
Kidd JM, Newman TL, Tüzün E et al (2007) Population stratification of a common APOBEC gene
deletion polymorphism. PLoS Genet 3:e63. https://doi.org/10.1371/journal.pgen.0030063
Kim Y, Maruki T (2011) Hitchhiking effect of a beneficial mutation spreading in a subdivided
population. Genetics 189:213–226. https://doi.org/10.1534/genetics.111.130203
Kimura R, Fujimoto A, Tokunaga K, Ohashi J (2007 Mar 14) A practical genome scan for
population-specific strong selective sweeps that have reached fixation. PLoS One 2(3):e286.
https://doi.org/10.1371/journal.pone.0000286.
Kimura R, Ohashi J, Matsumura Y, Nakazawa M, Inaoka T, Ohtsuka R, Osawa M, Tokunaga
K (2008 Aug) Gene flow and natural selection in oceanic human populations inferred from
genome-wide SNP typing. Mol Biol Evol 25(8):1750–1761. https://doi.org/10.1093/molbev/
msn128
Krawczak M, Zschocke J (2003) A role for overdominant selection in phenylketonuria? Evidence
from molecular data. Hum Mutat 21:394–397. https://doi.org/10.1002/humu.10205
231
Hawks J, Wang ET, Cochran GM et al (2007) Recent acceleration of human adaptive evolution.
Proc Natl Acad Sci 104:20753–20758. https://doi.org/10.1073/pnas.0707650104
Hermisson J, Pennings P (2005) Soft sweeps: molecular population genetics of adaptation from
standing genetic variation. Genetics 169:2335–2352
Hernandez RD, Kelley JL, Elyashiv E et al (2011) Classic selective sweeps were rare in recent
human evolution. Science 331:920–924. https://doi.org/10.1126/science.1198878
Hinds DA, Stuve LL, Nilsen GB et al (2005) Whole-genome patterns of common DNA variation
in three human populations. Science 307:1072–1079. https://doi.org/10.1126/science.1105436
Huerta-Sanchez E, DeGiorgio M, Pagani L et al (2013) Genetic signatures reveal high-altitude
adaptation in a set of ethiopian populations. Mol Biol Evol 30:1877–1888. https://doi.org/
10.1093/molbev/mst089
Huertas-Vazquez A, Plaisier CL, Geng R et al (2010) A nonsynonymous SNP within PCDH15 is
associated with lipid traits in familial combined hyperlipidemia. Hum Genet 127:83–89. https:/
/doi.org/10.1007/s00439-009-0749-z
Ingram CJE, Mulcare CA, Itan Y et al (2009) Lactose digestion and the evolutionary genetics of
lactase persistence. Hum Genet 124:579–591. https://doi.org/10.1007/s00439-008-0593-6
International HapMap Consortium (2005) A haplotype map of the human genome. Nature
437:1299–1320. https://doi.org/10.1038/nature04226
International HapMap Consortium, Frazer KA, Ballinger DG et al (2007) A second generation
human haplotype map of over 3.1 million SNPs. Nature 449:851–861. https://doi.org/10.1038/
nature06258
International HapMap 3 Consortium (2010) Integrating common and rare genetic variation in 822
diverse human populations. Nature 467:52–58
Johansson A, Gyllensten U (2008 Jun) Identification of local selective sweeps in human populations since the exodus from Africa. Hereditas 145(3):126–137. https://doi.org/10.1111/j.00180661.2008.02054.x
Jones BL, Raga TO, Liebert A et al (2013) Diversity of lactase persistence alleles in Ethiopia:
signature of a soft selective sweep. Am J Hum Genet 93:538–544. https://doi.org/10.1016/
j.ajhg.2013.07.008
Jorde LB, Watkins WS, Bamshad MJ et al (2000) The distribution of human genetic diversity: a
comparison of mitochondrial, autosomal, and Y-chromosome data. Am J Hum Genet 66:979–
988. https://doi.org/10.1086/302825
Kaessmann H, Wiebe V, Weiss G, Pääbo S (2001) Great ape DNA sequences reveal a reduced
diversity and an expansion in humans. Nat Genet 27:155–156. https://doi.org/10.1038/84773
Kayser M, Brauer S, Stoneking M (2003) A genome scan to detect candidate regions influenced
by local natural selection in human populations. Mol Biol Evol 20:893–900. https://doi.org/
10.1093/molbev/msg092
Kelley JL, Madeoy J, Calhoun JC et al (2006) Genomic signatures of positive selection in
humans and the limits of outlier approaches. Genome Res 16:980–989. https://doi.org/10.1101/
gr.5157306
Kidd JM, Newman TL, Tüzün E et al (2007) Population stratification of a common APOBEC gene
deletion polymorphism. PLoS Genet 3:e63. https://doi.org/10.1371/journal.pgen.0030063
Kim Y, Maruki T (2011) Hitchhiking effect of a beneficial mutation spreading in a subdivided
population. Genetics 189:213–226. https://doi.org/10.1534/genetics.111.130203
Kimura R, Fujimoto A, Tokunaga K, Ohashi J (2007 Mar 14) A practical genome scan for
population-specific strong selective sweeps that have reached fixation. PLoS One 2(3):e286.
https://doi.org/10.1371/journal.pone.0000286.
Kimura R, Ohashi J, Matsumura Y, Nakazawa M, Inaoka T, Ohtsuka R, Osawa M, Tokunaga
K (2008 Aug) Gene flow and natural selection in oceanic human populations inferred from
genome-wide SNP typing. Mol Biol Evol 25(8):1750–1761. https://doi.org/10.1093/molbev/
msn128
Krawczak M, Zschocke J (2003) A role for overdominant selection in phenylketonuria? Evidence
from molecular data. Hum Mutat 21:394–397. https://doi.org/10.1002/humu.10205