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The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation
Open accessAbstract
There has long been interest in understanding the genetic basis of human adaptation. To what extent are phenotypic differences among human populations driven by natural selection? With the recent arrival of large genome-wide data sets on human variation, there is now unprecedented opportunity for progress on this type of question. Several lines of evidence argue for an important role of positive selection in shaping human variation and differences among populations. These include studies of comparative morphology and physiology, as well as population genetic studies of candidate loci and genome-wide data. However, the data also suggest that it is unusual for strong selection to drive new mutations rapidly to fixation in particular populations (the 'hard sweep' model). We argue, instead, for alternatives to the hard sweep model: in particular, polygenic adaptation could allow rapid adaptation while not producing classical signatures of selective sweeps. We close by discussing some of the likely opportunities for progress in the field.
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“As previously noted (Hawks et al. 2007;Karasov et al. 2010;Pritchard et al. 2010), effective population size is one of the most important factors limiting the availability of adaptive mutations.”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Pritchard et al. 2010
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Cites
Introduction to Quantitative Genetics.
Edwards, A. W. F., & Falconer, D. S. (1982) · Biometrics · doi:10.2307/2529912 · Cited by 21,447
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
XV.—The Correlation between Relatives on the Supposition of Mendelian Inheritance.
Fisher, R. A. (1919) · Transactions of the Royal Society of Edinburgh · doi:10.1017/s0080456800012163 · Cited by 4,387
The hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (1974) · Genetical Research · doi:10.1017/s0016672300014634 · Cited by 3,415 · cited 1×
“The standard approaches to detecting selection in population genetic data have been strongly shaped by the classical hitch-hiking model explored in detail by Maynard Smith and Haigh [40].”
A Map of Recent Positive Selection in the Human Genome
Voight, B. F., Kudaravalli, S., Wen, X., & Pritchard, J. K. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040072 · Cited by 2,925 · cited 1×
“These include signals of partial sweeps [20], reduced diversity at putatively neutral sites [28,29] and an excess of SNPs with extreme population differentiation (high FST) within genes (Figure 1A) [30].”
Self-citationThe hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (2007) · Genetics Research · doi:10.1017/s0016672308009579 · Cited by 2,675
Genome-wide detection and characterization of positive selection in human populations
The International HapMap Consortium, Sabeti, P. C., Varilly, P., Fry, B., Lohmueller, J., Hostetter, E., Cotsapas, C., Xie, X., Byrne, E. H., McCarroll, S. A., et al. (2007) · Nature · doi:10.1038/nature06250 · Cited by 2,131
Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
Li, J. Z., Absher, D. M., Tang, H., Southwick, A. M., Casto, A. M., Ramachandran, S., Cann, H. M., Barsh, G. S., Feldman, M. W., Cavalli-Sforza, L. L., et al. (2008) · Science · doi:10.1126/science.1153717 · Cited by 1,915
The effect of deleterious mutations on neutral molecular variation.
Charlesworth, B., Morgan, M. T., & Charlesworth, D. (1993) · Genetics · doi:10.1093/genetics/134.4.1289 · Cited by 1,814 · cited 2×
“Taken together, these observations are most easily explained by either widespread positive selection, or possibly by background selection against mildly deleterious alleles [29,32].”
Effective population size and patterns of molecular evolution and variation
Charlesworth, B. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2526 · Cited by 1,743
Convergent adaptation of human lactase persistence in Africa and Europe
Tishkoff, S. A., Reed, F. A., Ranciaro, A., Voight, B. F., Babbitt, C. C., Silverman, J. S., Powell, K., Mortensen, H. M., Hirbo, J. B., Osman, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1946 · Cited by 1,615
Self-citationWidespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles.
Colosimo, P. F., Hosemann, K. E., Balabhadra, S., Villarreal, G., Dickson, M., Grimwood, J., Schmutz, J., Myers, R. M., Schluter, D., & Kingsley, D. M. (2005) · Science · doi:10.1126/science.1107239 · Cited by 1,448
The evolution of human skin coloration
Jablonski, N. G., & Chaplin, G. (2000) · Journal of Human Evolution · doi:10.1006/jhev.2000.0403 · Cited by 1,212 · cited 1×
“Dark pigmentation is strongly associated with tropical climates, and the spread of prehistoric humans into northern latitudes was accompanied by a shift to lighter skin color [13,14].”
Whole-Genome Patterns of Common DNA Variation in Three Human Populations
Hinds, D. A., Stuvé, L. L., Nilsen, G. B., Halperin, E., Eskin, E., Ballinger, D. G., Frazer, K. A., & Cox, D. (2005) · Science · doi:10.1126/science.1105436 · Cited by 1,179 · cited 1×
“Indeed, there is poor agreement among the studies, even though many of them actually analyze the same data, frequently genome-wide SNP data from HapMap or Perlegen [36,37].”
Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene
Bersaglieri, T., Sabeti, P. C., Patterson, N. J., Vanderploeg, T. N., Schaffner, S. F., Drake, J. A., Rhodes, M. E., Reich, D., & Hirschhorn, J. N. (2004) · The American Journal of Human Genetics · doi:10.1086/421051 · Cited by 1,169
Positive Natural Selection in the Human Lineage
Sabeti, P. C., Schaffner, S. F., Fry, B., Lohmueller, J., Varilly, P., Shamovsky, O., Palma, A., Mikkelsen, T. S., Altshuler, D., & Lander, E. S. (2006) · Science · doi:10.1126/science.1124309 · Cited by 1,157 · cited 1×
“variation around the selected site in ways that can be detected using a variety of tests of selection [5].”
Introduction to Quantitative Genetics
P.B., S. (1963) · Poultry Science · doi:10.3382/ps.0420547 · Cited by 1,053
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
Lamason, R. L., Mohideen, M.-A. P. K., Mest, J. R., Wong, A. C., Norton, H. L., Aros, M. C., Jurynec, M. J., Mao, X., Humphreville, V. R., Humbert, J. E., et al. (2005) · Science · doi:10.1126/science.1116238 · Cited by 1,043 · cited 1×
“A number of other loci, such as the pigmentation loci SLC24A5 and KITLG [15,16], which are not clearly monogenic, do show striking sweep signals that match the qualitative predictions of the hard-sweep model.”
Identification of a variant associated with adult-type hypolactasia
Enattah, N. S., Sahi, T., Savilahti, E., Terwilliger, J. D., Peltonen, L., & Järvelä, I. E. (2002) · Nature Genetics · doi:10.1038/ng826 · Cited by 1,029 · cited 1×
“For example, it appears that several mutations in an upstream enhancer of lactase cause lifelong expression of the lactase gene [27,76].”
Hermisson (2005) · doi:10.1534/genetics.104.036947 · Cited by 1,009
The Effect of Selection on Genetic Variability
Bulmer, M. G. (1971) · The American Naturalist · doi:10.1086/282718 · Cited by 989
Understanding quantitative genetic variation
Barton, N., & Keightley, P. D. (2002) · Nature Reviews Genetics · doi:10.1038/nrg700 · Cited by 833
Genome-wide association analysis identifies 20 loci that influence adult height
Initiative, D. G., Weedon, M. N., The Wellcome Trust Case Control Consortium, Cambridge GEM Consortium, Lango, H., Lindgren, C. M., Wallace, C., Evans, D. M., Mangino, M., Freathy, R. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.121 · Cited by 826
Genetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750
Signals of recent positive selection in a worldwide sample of human populations
Pickrell, J. K., Coop, G., Novembre, J., Kudaravalli, S., Li, J. Z., Absher, D., Srinivasan, B. S., Barsh, G. S., Myers, R. M., Feldman, M. W., et al. (2009) · Genome Research · doi:10.1101/gr.087577.108 · Cited by 717
Self-citationMorphological adaptation to climate in modern and fossil hominids
Ruff, C. B. (1994) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330370605 · Cited by 684 · cited 1×
“These patterns — although noisy — do appear to also hold in humans, implying that population movements into colder climates were accompanied by adaptation to larger, stockier body shape, presumably to improve thermal efficiency [7].”
Many sequence variants affecting diversity of adult human height
Gudbjartsson, D. F., Walters, G. B., Þorleifsson, G., Stefánsson, H., Halldórsson, B. V., Zusmanovich, P., Sulem, P., Thorlacius, S., Gylfason, A., Steinberg, S., et al. (2008) · Nature Genetics · doi:10.1038/ng.122 · Cited by 675
Tishkoff, S. A., Varkonyi, R., Cahinhinan, N., Abbes, S., Argyropoulos, G., Destro-Bisol, G., Drousiotou, A., Dangerfield, B., Lefranc, G., Loiselet, J., et al. (2001) · Science · doi:10.1126/science.1061573 · Cited by 630 · cited 1×
“Several of these are involved in malaria resistance, including the Duffy antigen protein (DARC) [23] and Glucose-6-phosphate dehydrogenase (G6PD) [24], as well as rarer mutations in the a- and b-globin genes that can lead to sickle cell anemia or thalassemias.”
Assessing the evolutionary impact of amino acid mutations in the human genome.
Boyko, A. R., Williamson, S. H., Indap, A. R., Degenhardt, J. D., Hernandez, R. D., Lohmueller, K. E., Adams, M. D., Schmidt, S., Sninsky, J. J., Sunyaev, S. R., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000083 · Cited by 628 · cited 1×
“The conclusion that adaptive selection may be widespread is further bolstered by similar results for other organisms, especially Drosophila [6], and also by recent estimates that 10-20% of amino acid replacements on the human lineage have been driven by positive selection [33].”
Visscher, P. M., Medland, S. E., Ferreira, M. A. R., Morley, K. I., Zhu, G., Cornes, B. K., Montgomery, G. W., & Martin, N. G. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020041 · Cited by 613 · cited 1×
“Since height is extremely heritable [69], many more loci remain to be found.”
Natural selection has driven population differentiation in modern humans
Barreiro, L. B., Laval, G., Quach, H., Patin, E., & Quintana-Murci, L. (2008) · Nature Genetics · doi:10.1038/ng.78 · Cited by 605 · cited 1×
“These include signals of partial sweeps [20], reduced diversity at putatively neutral sites [28,29] and an excess of SNPs with extreme population differentiation (high FST) within genes (Figure 1A) [30].”
Identification of ten loci associated with height highlights new biological pathways in human growth
Initiative, T. D. G., Lettre, G., FUSION, KORA, The Prostate, L. C. A. O. C. S. T., Study, T. N. H., SardiNIA, Jackson, A., Gieger, C., Schumacher, F. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.125 · Cited by 599
Recent and ongoing selection in the human genome
Nielsen, R., Hellmann, I., Hubisz, M. J., Bustamante, C. D., & Clark, A. G. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2187 · Cited by 513
Localizing Recent Adaptive Evolution in the Human Genome.
Williamson, S. H., Hubisz, M. J., Clark, A. G., Payseur, B. A., Bustamante, C. D., & Nielsen, R. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030090 · Cited by 507
Genomic insights into positive selection
Biswas, S., & Akey, J. M. (2006) · Trends in Genetics · doi:10.1016/j.tig.2006.06.005 · Cited by 483
Barton, N. (2000) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2000.0716 · Cited by 475 · cited 1×
“Qualitatively, increased drift of neutral alleles within genes due to effects of polygenic selection on nearby sites [70] should create the types of differences that are observed between genic and non-genic regions.”
PREDICTING MICROEVOLUTIONARY RESPONSES TO DIRECTIONAL SELECTION ON HERITABLE VARIATION
Grant, P. R., & Grant, B. R. (1995) · Evolution · doi:10.1111/j.1558-5646.1995.tb02236.x · Cited by 474
Recent acceleration of human adaptive evolution
Hawks, J., Wang, E. T., Cochran, G. M., Harpending, H. C., & Moyzis, R. K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707650104 · Cited by 471 · cited 1×
“It has been proposed that recent population growth of humans could have supplied a greater input of new mutations [51,52]; additionally, even modest population growth can greatly increase fixation probabilities of favored alleles [53].”
Widespread Genomic Signatures of Natural Selection in Hominid Evolution
McVicker, G., Gordon, D., Davis, C., & Green, P. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000471 · Cited by 456 · cited 5×
“Taken together, these observations are most easily explained by either widespread positive selection, or possibly by background selection against mildly deleterious alleles [29,32].”
InfluentialTHE SIGNATURE OF POSITIVE SELECTION ON STANDING GENETIC VARIATION
Przeworski, M., Coop, G., & Wall, J. D. (2005) · Evolution · doi:10.1554/05-273.1 · Cited by 435
Self-citationConstructing genomic maps of positive selection in humans: Where do we go from here?Preprint
Akey, J. M. (2009) · Genome Research · doi:10.1101/gr.086652.108 · Cited by 433
The role of geography in human adaptation
Coop, G., Pickrell, J. K., Novembre, J., Kudaravalli, S., Li, J., Absher, D., Myers, R. M., Cavalli-Sforza, L. L., Feldman, M. W., & Pritchard, J. K. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000500 · Cited by 412 · cited 10×
“For example, there are just 13 non-synonymous SNPs in Phase II HapMap with a frequency difference >90% between the Yoruba and east Asians.”
InfluentialSelf-citationGenetic evidence for the convergent evolution of light skin in Europeans and East Asians
Norton, H. L., Kittles, R. A., Parra, E., McKeigue, P., Mao, X., Cheng, K., Canfield, V. A., Bradley, D. G., McEvoy, B., & Shriver, M. D. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msl203 · Cited by 410 · cited 6×
“For example, there are just 13 non-synonymous SNPs in Phase II HapMap with a frequency difference >90% between the Yoruba and east Asians.”
InfluentialHow reliable are empirical genomic scans for selective sweeps?Preprint
Teshima, K. M., Coop, G., & Przeworski, M. (2006) · Genome Research · doi:10.1101/gr.5105206 · Cited by 394 · cited 3×
“Although each of these scans highlights potentially interesting signals, it is currently difficult to assess how much confidence should be placed in individual signals in the absence of further biological or functional information [34,35].”
Self-citationMiller, C. T., Beleza, S., Pollen, A. A., Schluter, D., Kittles, R. A., Shriver, M. D., & Kingsley, D. M. (2007) · Cell · doi:10.1016/j.cell.2007.10.055 · Cited by 388 · cited 1×
“A number of other loci, such as the pigmentation loci SLC24A5 and KITLG [15,16], which are not clearly monogenic, do show striking sweep signals that match the qualitative predictions of the hard-sweep model.”
Haldane's Sieve and Adaptation From the Standing Genetic Variation
Orr, H. A., & Betancourt, A. J. (2001) · Genetics · doi:10.1093/genetics/157.2.875 · Cited by 371
Detection of the Signature of Natural Selection in Humans: Evidence from the Duffy Blood Group Locus
Hamblin, M. T., & Rienzo, A. D. (2000) · The American Journal of Human Genetics · doi:10.1086/302879 · Cited by 346 · cited 2×
“Several of these are involved in malaria resistance, including the Duffy antigen protein (DARC) [23] and Glucose-6-phosphate dehydrogenase (G6PD) [24], as well as rarer mutations in the a- and b-globin genes that can lead to sickle cell anemia or thalassemias.”
Enattah, N. S., Jensen, T. G. K., Nielsen, M., Lewinsky, R., Kuokkanen, M., Rasinperä, H., El‐Shanti, H., Seo, J. K., Alifrangis, M., Khalil, I. F., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.012 · Cited by 339
Pervasive Natural Selection in the Drosophila Genome?
Sella, G., Petrov, D. A., Przeworski, M., & Andolfatto, P. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000495 · Cited by 338 · cited 2×
“The conclusion that adaptive selection may be widespread is further bolstered by similar results for other organisms, especially Drosophila [6], and also by recent estimates that 10-20% of amino acid replacements on the human lineage have been driven by positive selection [33].”
Human Genetic Adaptation to High Altitude
MOORE, L. G. (2001) · High Altitude Medicine & Biology · doi:10.1089/152702901750265341 · Cited by 335 · cited 3×
“Another impressive example of adaptation is provided by human populations living at high altitude, especially in the Himalayas and the Andes [9,10].”
Pattern of polymorphism after strong artificial selection in a domestication event
Innan, H., & Kim, Y. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0401720101 · Cited by 332
The Probability of Fixation in Populations of Changing Size
Otto, S. P., & Whitlock, M. C. (1997) · Genetics · doi:10.1093/genetics/146.2.723 · Cited by 324
Soft Sweeps II—Molecular Population Genetics of Adaptation from Recurrent Mutation or Migration
Pennings, P. S., & Hermisson, J. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msj117 · Cited by 322 · cited 1×
“For traits where the mutational target size is hundreds of base pairs or more, we can expect that adaptation from standing variation is likely to be the rule and, additionally, that very often multiple favored mutations may sweep up simultaneously, with none reaching fixation during the selective sweep [47].”
Jeong, S., Rebeiz, M., Andolfatto, P., Werner, T., True, J., & Carroll, S. B. (2008) · Cell · doi:10.1016/j.cell.2008.01.014 · Cited by 309
Genetic and statistical analyses of strong selection on polygenic traits: what, me normal?
Turelli, M., & Barton, N. (1994) · Genetics · doi:10.1093/genetics/138.3.913 · Cited by 289
Orr, H. A. (1998) · Genetics · doi:10.1093/genetics/149.4.2099 · Cited by 285
Adaptations to Climate in Candidate Genes for Common Metabolic Disorders
Hancock, A. M., Witonsky, D., GORDON, A. S., Eshel, G., Pritchard, J. K., Coop, G., & Rienzo, A. D. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.0040032 · Cited by 277 · cited 1×
“In the future, therefore, we expect to see more success at identifying phenotypes or pathways that are enriched for selection signals [4,18,34,72,73], which will also bolster the support for the action of selection in general.”
Self-citationSoft Sweeps III - The signature of positive selection from recurrent mutation
Pennings, P. S., & Hermisson, J. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0020186 · Cited by 273 · cited 2×
“Although their prevalence is ultimately an empirical question, simple models suggest that, for plausible parameter values, soft sweeps are likely to be widespread [41,49].”
Keinan, A., Mullikin, J. C., Patterson, N., & Reich, D. (2007) · Nature Genetics · doi:10.1038/ng2116 · Cited by 272 · cited 1×
“Nearly all of these rare fixation events have taken place outside Africa and, curiously, most are found in the east Asians, the group that has experienced the strongest genetic drift of the three HapMap groups [39].”
Voight, B. F., Adams, A. M., Frisse, L. A., Qian, Y., Hudson, R. R., & Di Rienzo, A. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0507325102 · Cited by 262 · cited 1×
“The latter effect could substantially reduce the waiting time for new favored mutations to start spreading at loci with very small mutational targets, although it should be noted that it is still unclear when growth in census population size began to increase the effective population size [54].”
The response to selection on major and minor mutations affecting a metrical trait
Lande, R. (1983) · Heredity · doi:10.1038/hdy.1983.6 · Cited by 244 · cited 1×
“This means that it may be very common for selection to push alleles upwards in frequency, but generally not to fixation [22,62,63].”
Artificial Selection Experiments
Hill, W. G., & Caballero, A. (1992) · Annual Review of Ecology and Systematics · doi:10.1146/annurev.es.23.110192.001443 · Cited by 232
Spatial patterns of variation due to natural selection in humans
Novembre, J., & Di Rienzo, A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2632 · Cited by 205 · cited 2×
“In the future, therefore, we expect to see more success at identifying phenotypes or pathways that are enriched for selection signals [4,18,34,72,73], which will also bolster the support for the action of selection in general.”
Predicting Microevolutionary Responses to Directional Selection on Heritable Variation
Grant, P. R., & Grant, B. R. (1995) · Evolution · doi:10.2307/2410334 · Cited by 193
Human pigmentation variation: evolution, genetic basis, and implications for public health
Parra, E. J. (2007) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20727 · Cited by 191 · cited 2×
“Dark pigmentation is strongly associated with tropical climates, and the spread of prehistoric humans into northern latitudes was accompanied by a shift to lighter skin color [13,14].”
Dynamics of polygenic characters under selection
Turelli, M., & Barton, N. (1990) · Theoretical Population Biology · doi:10.1016/0040-5809(90)90002-d · Cited by 188
Selective Sweep at a Quantitative Trait Locus in the Presence of Background Genetic Variation
Chevin, L. (2008) · Genetics · doi:10.1534/genetics.108.093351 · Cited by 179 · cited 1×
“This means that it may be very common for selection to push alleles upwards in frequency, but generally not to fixation [22,62,63].”
Evolution of the human pygmy phenotype
Perry, G. H., & Dominy, N. J. (2009) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2008.11.008 · Cited by 162 · cited 2×
“At the other end of the spectrum is the striking ‘pygmy’ phenotype that has evolved convergently in rainforest populations in Africa, South-East Asia, and South America [8].”
Identifying genes underlying skin pigmentation differences among human populations
Myles, S., Somel, M., Tang, K., Kelso, J., & Stoneking, M. (2006) · Human Genetics · doi:10.1007/s00439-006-0256-4 · Cited by 132 · cited 1×
“In the future, therefore, we expect to see more success at identifying phenotypes or pathways that are enriched for selection signals [4,18,34,72,73], which will also bolster the support for the action of selection in general.”
Pervasive Hitchhiking at Coding and Regulatory Sites in Humans
Cai, J. J., Macpherson, J. M., Sella, G., & Petrov, D. A. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000336 · Cited by 129 · cited 2×
“These include signals of partial sweeps [20], reduced diversity at putatively neutral sites [28,29] and an excess of SNPs with extreme population differentiation (high FST) within genes (Figure 1A) [30].”
Predicting human height by Victorian and genomic methods
Aulchenko, Y. S., Struchalin, M. V., Belonogova, N. M., Axenovich, T. I., Weedon, M. N., Albert Hofman, D., Uitterlinden, A. G., Kayser, M., Oostra, B. A., van Duijn, C. M., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.5 · Cited by 126
Evolutionary adaptation to high altitude: A view from in utero
Julian, C. G., Wilson, M. J., & MOORE, L. G. (2009) · American Journal of Human Biology · doi:10.1002/ajhb.20900 · Cited by 98 · cited 2×
“Current evidence suggests that these differences are not simply the result of recent acclimation, but are at least partly genetic, although the relevant loci are not known [9,10,12].”
Population genetic analysis of shotgun assemblies of genomic sequences from multiple individualsPreprint
Hellmann, I., Mang, Y., Gu, Z., Li, P., Vega, F. M. D. L., Clark, A. G., & Nielsen, R. (2008) · Genome Research · doi:10.1101/gr.074187.107 · Cited by 93 · cited 1×
“Also consistent with the action of selection, there is reduced diversity in regions of low recombination, especially in gene-rich regions [28,29,31].”
The divergence of a polygenic system subject to stabilizing selection, mutation and drift
Barton, N. (1989) · Genetics Research · doi:10.1017/s0016672300028378 · Cited by 87 · cited 1×
“At larger time scales, species differences are generally due to fixed differences; this might occur by the somewhat random fixation of an appropriate constellation of alleles to maintain the preferred phenotype [71].”
Tibetan and Andean Contrasts in Adaptation to High-Altitutde Hypoxia
Beall, C. M. (2002) · Advances in experimental medicine and biology · doi:10.1007/0-306-46825-5_7 · Cited by 76 · cited 2×
“Another impressive example of adaptation is provided by human populations living at high altitude, especially in the Himalayas and the Andes [9,10].”
Brutsaert, T. D. (2007) · Respiratory Physiology & Neurobiology · doi:10.1016/j.resp.2007.03.004 · Cited by 65 · cited 1×
“Compared to related lowland populations, these high-elevation populations show a suite of physiological adaptations to low oxygen [11].”
Ashworth, J. T., Allison, M. J., Gerszten, E., & Pezzia, A. (1976) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330450111 · Cited by 44
Mutation, selection and the future of human evolution
Reed, F. A., & Aquadro, C. F. (2006) · Trends in Genetics · doi:10.1016/j.tig.2006.07.005 · Cited by 33 · cited 1×
“It has been proposed that recent population growth of humans could have supplied a greater input of new mutations [51,52]; additionally, even modest population growth can greatly increase fixation probabilities of favored alleles [53].”
Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History
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Metadata
- Authors
- Pritchard, J. K., Pickrell, J. K., & Coop, G.
- Affiliations
- Howard Hughes Medical Institute (US)
- University of Chicago (US)
- University of California, Davis (US)
- Corresponding author
- Pritchard, Jonathan K.
- Venue
- Current Biology
- Publisher
- Elsevier BV
- Published
- 2010-02
- Volume
- 20
- Issue
- 4
- Pages
- R208-R215
- ISSN
- 0960-9822 (ISSN-L)
- PMC
- PMC2994553
- OpenAlex
- W2135370544
- Cited by
- 932
- References
- 80
- Citations by year
- 2026: 46 · 2025: 35 · 2024: 38 · 2023: 46 · 2022: 47 · 2021: 69 · 2020: 64 · 2019: 63 · 2018: 72 · 2017: 54 · 2016: 73 · 2015: 69 · 2014: 72 · 2013: 51 · 2012: 64
- FWCI
- 32.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Current Biology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- National Institute of Mental Health (R01MH084703)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- human adaptation, positive selection, hard sweeps, soft sweeps, polygenic adaptation, selective sweeps, human population variation, natural selection, candidate loci
- MeSH terms
- Adaptation, Biological, Genetics, Population, Humans, Selection, Genetic, Multifactorial Inheritance
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