Access the full text.
Sign up today, get DeepDyve free for 14 days.
J. E. Tobin, J. C. Latourelle, M. F. Lew, C. Klein, O. Suchowersky, H. A. Shill, L. I. Golbe, M. H. Mark, J. H. Growdon, G. F. Wooten, B. A. Racette, J. S. Perlmutter, R. Watts, M. Guttman, K. B. Baker, S. Goldwurm, G. Pezzoli, C. Singer, M. H. Saint‐Hilaire, A. E. Hendricks, S. Williamson, M. W. Nagle, J. B. Wilk, T. Massood, J. M. Laramie, A. L. Destefano, I. Litvan, G. Nicholson, A. Corbett, S. Isaacson, D. J. Burn, P. F. Chinnery, P. P. Pramstaller, S. Sherman, J. Al‐Hinti, E. Drasby, M. Nance, A. T. Moller, K. Ostergaard, R. Roxburgh, B. Snow, J. T. Slevin, F. Cambi, J. F. Gusella, R. H. Myers (2008)
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: The GenePD Study, 71
S. Tishkoff, K. Kidd (2004)
Implications of biogeography of human populations for 'race' and medicineNature Genetics, 36 Suppl 1
Justin Graf, R. Hodgson, A. Daal (2005)
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variationHuman Mutation, 25
Joseph Pickrell, G. Coop, J. Novembre, S. Kudaravalli, Jun Li, D. Absher, Balaji Srinivasan, G. Barsh, R. Myers, M. Feldman, J. Pritchard (2009)
Signals of recent positive selection in a worldwide sample of human populations.Genome research, 19 5
E. Burchard, E. Ziv, N. Coyle, S. Gomez, Hua Tang, A. Karter, J. Mountain, E. Perez-stable, D. Sheppard, N. Risch (2003)
The importance of race and ethnic background in biomedical research and clinical practice.The New England journal of medicine, 348 12
Å. Johansson, U. Gyllensten (2008)
Identification of local selective sweeps in human populations since the exodus from Africa.Hereditas, 145 3
D. Hartl, A. Clark (1981)
Principles of population genetics
J. Amigo, A. Salas, C. Phillips, Á. Carracedo (2008)
SPSmart: adapting population based SNP genotype databases for fast and comprehensive web accessBMC Bioinformatics, 9
Leonardo Arbiza, J. Dopazo, H. Dopazo (2006)
Positive Selection, Relaxation, and Acceleration in the Evolution of the Human and Chimp GenomePLoS Computational Biology, 2
D. Hinds, L. Stuve, Geoffrey Nilsen, E. Halperin, E. Eskin, D. Ballinger, K. Frazer, D. Cox (2005)
Whole-Genome Patterns of Common DNA Variation in Three Human PopulationsScience, 307
S. Williamson, M. Hubisz, A. Clark, B. Payseur, C. Bustamante, R. Nielsen (2007)
Localizing Recent Adaptive Evolution in the Human GenomePLoS Genetics, 3
R. Ross, L. Bernstein, H. Judd, R. Hanisch, M. Pike, B. Henderson (1986)
Serum testosterone levels in healthy young black and white men.Journal of the National Cancer Institute, 76 1
M. Batzer, M. Stoneking, M. Alegria-Hartman, H. Bazan, D. Kass, T. Shaikh, G. Novick, P. Ioannou, W. Scheer, R. Herrera (1994)
African origin of human-specific polymorphic Alu insertions.Proceedings of the National Academy of Sciences of the United States of America, 91 25
Hua Chen, N. Patterson, D. Reich (2010)
Population differentiation as a test for selective sweeps.Genome research, 20 3
J. Tobin, J. Tobin, J. Latourelle, Mark Lew, Christine Klein, O. Suchowersky, Holly Shill, L. Golbe, M. Mark, J. Growdon, G. Wooten, B. Racette, J. Perlmutter, Ray Watts, M. Guttman, Kenneth Baker, S. Goldwurm, G. Pezzoli, Carlos Singer, M. Saint-Hilaire, Audrey Hendricks, S. Williamson, M. Nagle, J. Wilk, T. Massood, J. Laramie, Anita Destefano, I. Litvan, Garth Nicholson, Alastair Corbett, Stuart Isaacson, David Burn, P. Chinnery, P. Pramstaller, Scott Sherman, Jomana Al-Hinti, Edward Drasby, M. Nance, A. Møller, Karen Østergaard, R. Roxburgh, Barry Snow, J. Slevin, F. Cambi, James Gusella, R. Myers (2008)
Haplotypes and gene expression implicate the MAPT region for Parkinson diseaseNeurology, 71
D. Huang, Brad Sherman, R. Lempicki (2008)
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resourcesNature Protocols, 4
K. Frazer, D. Ballinger, D. Cox, D. Hinds, L. Stuve, R. Gibbs, J. Belmont, A. Boudreau, P. Hardenbol, S. Leal, S. Pasternak, D. Wheeler, T. Willis, F. Yu, Huanming Yang, Changqing Zeng, Yang Gao, Haoran Hu, Weitao Hu, Chaohua Li, Wei Lin, Siqi Liu, Hao Pan, Xiaoli Tang, Jian Wang, Wei Wang, Jun Yu, Bo Zhang, Qingrun Zhang, Hongbin Zhao, Hui-Ping Zhao, Jun Zhou, S. Gabriel, Rachel Barry, B. Blumenstiel, Amy Camargo, M. Defelice, M. Faggart, Marie-Anne Goyette, Supriya Gupta, Jamie Moore, Huy Nguyen, R. Onofrio, Melissa Parkin, J. Roy, E. Stahl, E. Winchester, L. Ziaugra, D. Altshuler, Yan Shen, Zhijian Yao, Wei Huang, X. Chu, Yungang He, Li Jin, Yangfan Liu, Yayun Shen, Weiwei Sun, Haifeng Wang, Yi Wang, Ying Wang, Xiao-yan Xiong, Liang Xu, M. Waye, S. Tsui, H. Xue, J. Wong, L. Galver, Jian-Bing Fan, K. Gunderson, S. Murray, A. Oliphant, M. Chee, A. Montpetit, F. Chagnon, Vincent Ferretti, M. Leboeuf, J. Olivier, M. Phillips, Stéphanie Roumy, C. Sallée, A. Verner, T. Hudson, P. Kwok, Dongmei Cai, D. Koboldt, Raymond Miller, L. Pawlikowska, P. Taillon-Miller, M. Xiao, L. Tsui, W. Mak, You-Qiang Song, P. Tam, Yusuke Nakamura, T. Kawaguchi, T. Kitamoto, Takashi Morizono, A. Nagashima, Y. Ohnishi, A. Sekine, Toshihiro Tanaka, T. Tsunoda, P. Deloukas, C. Bird, Marcos Delgado, E. Dermitzakis, R. Gwilliam, S. Hunt, J. Morrison, Don Powell, B. Stranger, P. Whittaker, D. Bentley, M. Daly, P. Bakker, J. Barrett, Y. Chretien, J. Maller, S. Mccarroll, N. Patterson, I. Pe’er, A. Price, S. Purcell, D. Richter, Pardis Sabeti, R. Saxena, S. Schaffner, P. Sham, P. Varilly, Lincoln Stein, Lalitha Krishnan, A. Smith, M. Tello-Ruiz, Gudmundur Thorisson, A. Chakravarti, Peter Chen, D. Cutler, C. Kashuk, Shin Lin, G. Abecasis, W. Guan, Yun Li, Heather Munro, Zhaohui Qin, D. Thomas, G. McVean, A. Auton, L. Bottolo, Niall Cardin, S. Eyheramendy, C. Freeman, J. Marchini, S. Myers, C. Spencer, M. Stephens, P. Donnelly, L. Cardon, G. Clarke, David Evans, A. Morris, B. Weir, J. Mullikin, S. Sherry, M. Feolo, Andrew Skol, Houcan Zhang, I. Matsuda, Y. Fukushima, D. Macer, Eiko Suda, C. Rotimi, C. Adebamowo, I. Ajayi, Toyin Aniagwu, P. Marshall, C. Nkwodimmah, C. Royal, M. Leppert, M. Dixon, A. Peiffer, Renzong Qiu, A. Kent, Kazuto Kato, N. Niikawa, I. Adewole, B. Knoppers, Morris Foster, E. Clayton, Jessica Watkin, D. Muzny, L. Nazareth, E. Sodergren, G. Weinstock, I. Yakub, B. Birren, R. Wilson, L. Fulton, J. Rogers, J. Burton, N. Carter, C. Clee, M. Griffiths, Matthew Jones, K. McLay, R. Plumb, M. Ross, S. Sims, D. Willey, Zhu Chen, Hua Han, L. Kang, M. Godbout, J. Wallenburg, P. L'Archevêque, G. Bellemare, Koji Saeki, Hongguang Wang, Daochang An, Hongbo Fu, Qing Li, Zhen Wang, Ren-hao Wang, A. Holden, L. Brooks, J. Mcewen, M. Guyer, V. Wang, Jane Peterson, Michael Shi, J. Spiegel, L. Sung, Lynn Zacharia, F. Collins, Karen Kennedy, Ruth Jamieson, J. Stewart (2007)
A second generation human haplotype map of over 3.1 million SNPsNature, 449
A. Murati, J. Adélaı̈de, M. Mozziconacci, C. Popovici, N. Carbuccia, A. Letessier, F. Birg, D. Birnbaum, M. Chaffanet (2004)
Variant MYST4‐CBP gene fusion in a t(10;16) acute myeloid leukaemiaBritish Journal of Haematology, 125
L. Barreiro, G. Laval, Hélène Quach, E. Patin, L. Quintana-Murci (2008)
Natural selection has driven population differentiation in modern humansNature Genetics, 40
J. Akey, Ge Zhang, Kun Zhang, Li Jin, M. Shriver (2002)
Interrogating a high-density SNP map for signatures of natural selection.Genome research, 12 12
B. Weir, L. Cardon, A. Anderson, D. Nielsen, W. Hill (2005)
Measures of human population structure show heterogeneity among genomic regions.Genome research, 15 11
J. Haigh (1974)
The hitch-hiking effect of a favourable gene.Genetical research, 23 1
G. Gibson, J. Blass, M. Beal, V. Bunik (2005)
The alpha-ketoglutarate-dehydrogenase complex: a mediator between mitochondria and oxidative stress in neurodegeneration.Molecular neurobiology, 31 1-3
Pardis Sabeti, P. Varilly, B. Fry, J. Lohmueller, E. Hostetter, C. Cotsapas, Xiaohui Xie, E. Byrne, S. Mccarroll, R. Gaudet, S. Schaffner, E. Lander (2007)
Genome-wide detection and characterization of positive selection in human populationsNature, 449
W. Watkins, C. Ricker, M. Bamshad, Marion Carroll, S. Nguyen, M. Batzer, M. Batzer, Henry Harpending, A. Rogers, L. Jorde (2001)
Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms.American journal of human genetics, 68 3
Sohini Ramachandran, Omkar Deshpande, C. Roseman, N. Rosenberg, M. Feldman, L. Cavalli-Sforza (2005)
Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa.Proceedings of the National Academy of Sciences of the United States of America, 102 44
Todd Bersaglieri, Pardis Sabeti, N. Patterson, T. Vanderploeg, S. Schaffner, J. Drake, M. Rhodes, D. Reich, J. Hirschhorn (2004)
Genetic signatures of strong recent positive selection at the lactase gene.American journal of human genetics, 74 6
J. Schumacher, Keesook Lee, S. Edelhoff, R. Braun (1995)
Spnr, a murine RNA-binding protein that is localized to cytoplasmic microtubulesThe Journal of Cell Biology, 129
S. Myles, M. Somel, K. Tang, J. Kelso, M. Stoneking (2006)
Identifying genes underlying skin pigmentation differences among human populationsHuman Genetics, 120
S. Myles, K. Tang, M. Somel, R. Green, J. Kelso, M. Stoneking (2007)
Identification and Analysis of Genomic Regions with Large Between‐Population Differentiation in HumansAnnals of Human Genetics, 72
J. Magalhães, G. Church (2007)
Analyses of human–chimpanzee orthologous gene pairs to explore evolutionary hypotheses of agingMechanisms of Ageing and Development, 128
J. Magalhães, C. Finch, G. Janssens (2010)
Next-generation sequencing in aging research: Emerging applications, problems, pitfalls and possible solutionsAgeing Research Reviews, 9
B. Voight, S. Kudaravalli, X. Wen, J. Pritchard (2006)
A Map of Recent Positive Selection in the Human GenomePLoS Biology, 4
M. Ashburner, C. Ball, J. Blake, D. Botstein, Heather Butler, J. Cherry, A. Davis, K. Dolinski, S. Dwight, J. Eppig, M. Harris, D. Hill, L. Issel-Tarver, A. Kasarskis, S. Lewis, J. Matese, J. Richardson, M. Ringwald, G. Rubin, G. Sherlock (2000)
Gene Ontology: tool for the unification of biologyNature Genetics, 25
S. Winters, Adam Brufsky, J. Weissfeld, Donald Trump, Mary Dyky, V. Hadeed (2001)
Testosterone, sex hormone-binding globulin, and body composition in young adult African American and Caucasian men.Metabolism: clinical and experimental, 50 10
K. Tang, Kevin Thornton, M. Stoneking (2007)
A New Approach for Using Genome Scans to Detect Recent Positive Selection in the Human GenomePLoS Biology, 5
S. McGraw, G. Morin, C. Vigneault, P. Leclerc, M. Sirard (2007)
Investigation of MYST4 histone acetyltransferase and its involvement in mammalian gametogenesisBMC Developmental Biology, 7
S. Shifman, J. Kuypers, M. Kokoris, B. Yakir, A. Darvasi (2003)
Linkage disequilibrium patterns of the human genome across populations.Human molecular genetics, 12 7
K. Laland, J. Odling-Smee, S. Myles (2010)
How culture shaped the human genome: bringing genetics and the human sciences togetherNature Reviews Genetics, 11
G. Coop, Joseph Pickrell, J. Novembre, S. Kudaravalli, Jun Li, D. Absher, R. Myers, L. Cavalli-Sforza, M. Feldman, J. Pritchard (2009)
The Role of Geography in Human AdaptationPLoS Genetics, 5
John Storey, R. Tibshirani (2003)
Statistical significance for genomewide studiesProceedings of the National Academy of Sciences of the United States of America, 100
A. Hughes, R. Welch, V. Puri, C. Matthews, Kashif Haque, S. Chanock, M. Yeager (2008)
Genome-wide SNP typing reveals signatures of population history.Genomics, 92 1
W. Watkins, A. Rogers, C. Ostler, S. Wooding, M. Bamshad, Anna-Marie Brassington, Marion Carroll, S. Nguyen, Jerilyn Walker, B. Prasad, P. Reddy, P. Das, M. Batzer, L. Jorde (2003)
Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms.Genome research, 13 7
M. Nei (1987)
Molecular Evolutionary Genetics
R. Cann, M. Stoneking, A. Wilson (1987)
Mitochondrial DNA and human evolutionNature, 325
L. Handley, A. Manica, J. Goudet, F. Balloux (2007)
Going the distance: human population genetics in a clinal world.Trends in genetics : TIG, 23 9
V. Rippe, N. Drieschner, M. Meiboom, H. Escobar, U. Bonk, G. Belge, J. Bullerdiek (2003)
Identification of a gene rearranged by 2p21 aberrations in thyroid adenomasOncogene, 22
Rebecca Lamason, M. Mohideen, J. Mest, Andrew Wong, H. Norton, M. Aros, M. Jurynec, Xianyun Mao, V. Humphreville, Jasper Humbert, Soniya Sinha, J. Moore, P. Jagadeeswaran, Wei Zhao, G. Ning, I. Makałowska, P. McKeigue, David O'donnell, R. Kittles, E. Parra, N. Mangini, D. Grunwald, M. Shriver, V. Canfield, K. Cheng (2005)
SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and HumansScience, 310
A. Manica, W. Amos, F. Balloux, T. Hanihara (2007)
The effect of ancient population bottlenecks on human phenotypic variationNature, 448
Libin Deng, Yuezheng Zhang, Jian Kang, T. Liu, Hongbin Zhao, Yang Gao, Chaohua Li, Hao Pan, Xiaoli Tang, Dunmei Wang, T. Niu, Huanming Yang, Changqing Zeng (2008)
An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphismHuman Mutation, 29
C. Stringer, R. Mckie (1996)
African Exodus: The Origins of Modern Humanity
M. Hamblin, A. Rienzo (2000)
Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus.American journal of human genetics, 66 5
Modern humans originated in Africa before migrating across the world with founder effects and adaptations to new environments contributing to their present phenotypic diversity. Determining the genetic basis of differences between populations may provide clues about our evolutionary history and may have clinical implications. Herein, we develop a method to detect genes and biological processes in which populations most differ by calculating the genetic distance between modern populations and a hypothetical ancestral population. We apply our method to large‐scale single nucleotide polymorphism (SNP) data from human populations of African, European and Asian origin. As expected, ancestral alleles were more conserved in the African populations and we found evidence of high divergence in genes previously suggested as targets of selection related to skin pigmentation, immune response, senses and dietary adaptations. Our genome‐wide scan also reveals novel candidates for contributing to population‐specific traits. These include genes related to neuronal development and behavior that may have been influenced by cultural processes. Moreover, in the African populations, we found a high divergence in genes related to UV protection and to the male reproductive system. Taken together, these results confirm and expand previous findings, providing new clues about the evolution and genetics of human phenotypic diversity.
Annals of Human Genetics – Wiley
Published: Jan 1, 2012
Keywords: ; ; ; ; ;
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.