메뉴 건너뛰기




Volumn 13, Issue 1, 2013, Pages

Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry

Author keywords

[No Author keywords available]

Indexed keywords

EMPIRICAL ANALYSIS; GENE; GENETIC DIFFERENTIATION; NATURAL SELECTION; PIGMENT;

EID: 84880023132     PISSN: None     EISSN: 14712148     Source Type: Journal    
DOI: 10.1186/1471-2148-13-150     Document Type: Article
Times cited : (43)

References (70)
  • 2
    • 77952326915 scopus 로고    scopus 로고
    • Human skin pigmentation as an adaptation to UV radiation
    • 20445093
    • Human skin pigmentation as an adaptation to UV radiation. Jablonski NG, Chaplin G, Proc Natl Acad Sci 2010 107 Suppl 2 8962 8968 20445093
    • (2010) Proc Natl Acad Sci , vol.107 , Issue.SUPPL. 2 , pp. 8962-8968
    • Jablonski, N.G.1    Chaplin, G.2
  • 3
    • 77956190317 scopus 로고    scopus 로고
    • Genetics of pigmentation in skin cancer
    • 10.1016/j.mrrev.2010.06.002 20601102
    • Genetics of pigmentation in skin cancer. Scherer D, Kumar R, Mutat Res 2010 705 141 153 10.1016/j.mrrev.2010.06.002 20601102
    • (2010) Mutat Res , vol.705 , pp. 141-153
    • Scherer, D.1    Kumar, R.2
  • 4
    • 0033912992 scopus 로고    scopus 로고
    • The evolution of human skin coloration
    • DOI 10.1006/jhev.2000.0403
    • The evolution of human skin coloration. Jablonski NG, Chaplin G, J Hum Evol 2000 39 57 106 10.1006/jhev.2000.0403 10896812 (Pubitemid 30480792)
    • (2000) Journal of Human Evolution , vol.39 , Issue.1 , pp. 57-106
    • Jablonski, N.G.1    Chaplin, G.2
  • 5
    • 36849008662 scopus 로고    scopus 로고
    • Human pigmentation variation: Evolution, genetic basis, and implications for public health
    • DOI 10.1002/ajpa.20727
    • Human pigmentation variation: evolution, genetic basis, and implications for public health. Parra EJ, AM J Phys Anthropol Supp 2007 45 85 105 (Pubitemid 350221252)
    • (2007) Yearbook of Physical Anthropology , vol.50 , pp. 85-105
    • Parra, E.J.1
  • 6
    • 67649637656 scopus 로고    scopus 로고
    • Development of different human skin colors: A review of highlighting photobiological and photobiophysical aspects
    • 10.1016/j.jphotobiol.2009.04.009
    • Development of different human skin colors: a review of highlighting photobiological and photobiophysical aspects. Juzeniene A, Setlow R, Porojnicu, Steindal AH, Moan J, Photochem Photobiol B Biol 2009 96 93 100 10.1016/j.jphotobiol.2009.04.009
    • (2009) Photochem Photobiol B Biol , vol.96 , pp. 93-100
    • Juzeniene, A.1    Setlow, R.2    Porojnicu3    Steindal, A.H.4    Moan, J.5
  • 7
    • 77953587754 scopus 로고    scopus 로고
    • Barrier requirements as the evolutionary driver of epidermal pigmentation in humans
    • 10.1002/ajhb.21043 20209486
    • Barrier requirements as the evolutionary driver of epidermal pigmentation in humans. Elias PM, Menon G, Wetzel BK, Williams JW, Am J Hum Biol 2010 22 526 537 10.1002/ajhb.21043 20209486
    • (2010) Am J Hum Biol , vol.22 , pp. 526-537
    • Elias, P.M.1    Menon, G.2    Wetzel, B.K.3    Williams, J.W.4
  • 8
    • 84856657305 scopus 로고    scopus 로고
    • Human skin pigmentation, migration and disease susceptibility
    • 10.1098/rstb.2011.0308 22312045
    • Human skin pigmentation, migration and disease susceptibility. Jablonski NG, Chaplin G, Phil Trans R Soc B 2012 367 785 792 10.1098/rstb.2011.0308 22312045
    • (2012) Phil Trans R Soc B , vol.367 , pp. 785-792
    • Jablonski, N.G.1    Chaplin, G.2
  • 9
    • 33748171462 scopus 로고    scopus 로고
    • A scan for signatures of positive selection in candidate loci for skin pigmentation in humans
    • DOI 10.1093/molbev/msl030
    • A scan for signatures of positive selection in candidate loci for skin pigmentation in humans. Izagirre N, Garcia I, Junquera, de la Rua C, Alonso S, Mol Biol Evol 2006 23 1697 1706 10.1093/molbev/msl030 16757656 (Pubitemid 44309763)
    • (2006) Molecular Biology and Evolution , vol.23 , Issue.9 , pp. 1697-1706
    • Izagirre, N.1    Garcia, I.2    Junquera, C.3    De La Rua, C.4    Alonso, S.5
  • 11
    • 34547110828 scopus 로고    scopus 로고
    • A new approach for using genome scans to detect recent positive selection in the human genome
    • DOI 10.1371/journal.pbio.0050171
    • A New approach for using genome scans to detect recent positive selection in the human genome. Tang K, Thornton KR, Stoneking M, PLOS Bio 2007 5 1587 1602 (Pubitemid 47105348)
    • (2007) PLoS Biology , vol.5 , Issue.7 , pp. 1587-1602
    • Tang, K.1    Thornton, K.R.2    Stoneking, M.3
  • 12
    • 33749033325 scopus 로고    scopus 로고
    • The genetic architecture of normal variation in human pigmentation: An evolutionary perspective and model
    • The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model. McEvoy B, Beleza S, Shriver MD, Hum Mol Genet 2006 15 suppl 2 176 181
    • (2006) Hum Mol Genet , vol.15 , Issue.SUPPL. 2 , pp. 176-181
    • McEvoy, B.1    Beleza, S.2    Shriver, M.D.3
  • 13
    • 33845645529 scopus 로고    scopus 로고
    • Identifying genes underlying skin pigmentation differences among human populations
    • DOI 10.1007/s00439-006-0256-4
    • Identifying genes underlying skin pigmentation differences among human populations. Myles S, Somel M, Tang K, Kelso J, Stoneking M, Hum Genet 2007 120 613 621 16977434 (Pubitemid 44942845)
    • (2007) Human Genetics , vol.120 , Issue.5 , pp. 613-621
    • Myles, S.1    Somel, M.2    Tang, K.3    Kelso, J.4    Stoneking, M.5
  • 14
    • 34247097012 scopus 로고    scopus 로고
    • Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms
    • DOI 10.1111/j.1469-1809.2006.00341.x
    • Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Lao O, De Gruijter JM, Van Duijn K, Navarro A, Kayser M, Ann Hum Genet 2007 71 354 369 10.1111/j.1469-1809.2006.00341.x 17233754 (Pubitemid 46585678)
    • (2007) Annals of Human Genetics , vol.71 , Issue.3 , pp. 354-369
    • Lao, O.1    De Gruijter, J.M.2    Van Duijn, K.3    Navarro, A.4    Kayser, M.5
  • 18
    • 67651015954 scopus 로고    scopus 로고
    • The role of geography in human adaptation
    • 10.1371/journal.pgen.1000500 19503611
    • The role of geography in human adaptation. Coop G, Pickrell JK, Novembre J, Kudaravalli S, Li J, et al. PLoS Genet 2009 5 1000500 10.1371/journal.pgen. 1000500 19503611
    • (2009) PLoS Genet , vol.5 , pp. 51000500
    • Coop, G.1    Pickrell, J.K.2    Novembre, J.3    Kudaravalli, S.4    Li, J.5
  • 20
    • 77649260327 scopus 로고    scopus 로고
    • Population differentiation as a test for selective sweeps
    • 10.1101/gr.100545.109 20086244
    • Population differentiation as a test for selective sweeps. Chen H, Patterson N, Reich D, Genome Res 2010 20 393 402 10.1101/gr.100545.109 20086244
    • (2010) Genome Res , vol.20 , pp. 393-402
    • Chen, H.1    Patterson, N.2    Reich, D.3
  • 23
    • 77950385681 scopus 로고    scopus 로고
    • Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation
    • 10.1371/journal.pgen.1000897 20368965
    • Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation. Edwards M, Bigham A, Tan J, Li S, Gozdzik A, Ross K, Jin L, Parra EJ, PLoS Genet 2010 6 1000897 10.1371/journal.pgen.1000897 20368965
    • (2010) PLoS Genet , vol.6 , pp. 51000897
    • Edwards, M.1    Bigham, A.2    Tan, J.3    Li, S.4    Gozdzik, A.5    Ross, K.6    Jin, L.7    Parra, E.J.8
  • 26
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1092 human genomes
    • 10.1038/nature11632 23128226
    • An integrated map of genetic variation from 1092 human genomes. 1000 genomes project consortium, Nature 2012 491 56 65 10.1038/nature11632 23128226
    • (2012) Nature , vol.491 , pp. 56-65
  • 27
    • 84856879030 scopus 로고    scopus 로고
    • Understanding the evolution of human pigmentation: Recent contributions from population genetics
    • 10.1038/jid.2011.358 22113478
    • Understanding the evolution of human pigmentation: recent contributions from population genetics. Rees JL, Harding RM, J Invest Dermatol 2012 132 846 853 10.1038/jid.2011.358 22113478
    • (2012) J Invest Dermatol , vol.132 , pp. 846-853
    • Rees, J.L.1    Harding, R.M.2
  • 28
    • 0035904403 scopus 로고    scopus 로고
    • Human pigmentation genes: Identification, structure and consequences of polymorphic variation
    • DOI 10.1016/S0378-1119(01)00694-1, PII S0378111901006941
    • Human pigmentation genes: identification, structure and consequences of polymorphic variation. Sturm RA, Teasdale RD, Box NF, Gene 2001 277 49 62 10.1016/S0378-1119(01)00694-1 11602344 (Pubitemid 32972108)
    • (2001) Gene , vol.277 , Issue.1-2 , pp. 49-62
    • Sturm, R.A.1    Teasdale, R.D.2    Box, N.F.3
  • 29
    • 84873568960 scopus 로고    scopus 로고
    • Association of melanogenesis genes with skin color variation among Japanese females
    • 10.1016/j.jdermsci.2012.10.016 23165166
    • Association of melanogenesis genes with skin color variation among Japanese females. Abe Y, Tamiya G, Nakamura T, Hozumi Y, Suzuki T, J Dermatol Sci 2013 69 167 172 10.1016/j.jdermsci.2012.10.016 23165166
    • (2013) J Dermatol Sci , vol.69 , pp. 167-172
    • Abe, Y.1    Tamiya, G.2    Nakamura, T.3    Hozumi, Y.4    Suzuki, T.5
  • 30
    • 84870288281 scopus 로고    scopus 로고
    • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese
    • 10.1038/jhg.2012.96 22854540
    • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese. Yamaguchi K, Watanabe C, Kawaguchi A, Sato T, Naka I, Shindo M, Moromizato K, Aoki K, Ishida H, Kimura R, J Hum Genet 2012 57 700 708 10.1038/jhg.2012.96 22854540
    • (2012) J Hum Genet , vol.57 , pp. 700-708
    • Yamaguchi, K.1    Watanabe, C.2    Kawaguchi, A.3    Sato, T.4    Naka, I.5    Shindo, M.6    Moromizato, K.7    Aoki, K.8    Ishida, H.9    Kimura, R.10
  • 32
    • 0024313579 scopus 로고
    • Statistical method for testing the neutral mutation hypothesis by DNA polymorphism
    • Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Tajima F, Genetics 1989 123 585 595 2513255 (Pubitemid 19274682)
    • (1989) Genetics , vol.123 , Issue.3 , pp. 585-595
    • Tajima, F.1
  • 33
    • 0027453041 scopus 로고
    • Statistical tests of neutrality of mutations
    • 8454210
    • Statistical tests of neutrality of mutations. Fu YX, Li WH, Genetics 1993 133 693 709 8454210
    • (1993) Genetics , vol.133 , pp. 693-709
    • Fu, Y.X.1    Li, W.H.2
  • 34
    • 0030821992 scopus 로고    scopus 로고
    • Statistical tests of neutrality of mutations against population growth, hitch-hiking, and background selection
    • 9335623
    • Statistical tests of neutrality of mutations against population growth, hitch-hiking, and background selection. Fu X, Genetics 1997 147 915 925 9335623
    • (1997) Genetics , vol.147 , pp. 915-925
    • Fu, X.1
  • 35
    • 0033911640 scopus 로고    scopus 로고
    • Hitchhiking under positive Darwinian selection
    • Hitchhiking under positive Darwinian selection. Fay JC, Wu CI, Genetics 2000 155 1405 1413 10880498 (Pubitemid 30463447)
    • (2000) Genetics , vol.155 , Issue.3 , pp. 1405-1413
    • Fay, J.C.1    Wu, C.-I.2
  • 37
    • 0021566877 scopus 로고
    • Estimating F-statistics for the analysis of population structure
    • Estimating F-statistics for the analysis of population structure. Weir BS, Cockerham CC, Evolution Int J Or Evol 1984 38 1358 1370 10.2307/2408641 (Pubitemid 16277759)
    • (1984) Evolution , vol.38 , Issue.6 , pp. 1358-1370
    • Weir, B.S.1    Cockerham, C.C.2
  • 38
    • 33644981509 scopus 로고    scopus 로고
    • A map of recent positive selection in the human genome
    • 10.1371/journal.pbio.0040072 16494531
    • A map of recent positive selection in the human genome. Voight BF, Kudaravalli S, Wen X, Pritchard JK, PLoS Biol 2006 4 72 10.1371/journal.pbio. 0040072 16494531
    • (2006) PLoS Biol , vol.4 , pp. 572
    • Voight, B.F.1    Kudaravalli, S.2    Wen, X.3    Pritchard, J.K.4
  • 39
    • 84859755518 scopus 로고    scopus 로고
    • Rehh: An R package to detect footprints of selection in genome-wide SNP data from haplotype structure
    • 10.1093/bioinformatics/bts115 22402612
    • rehh: An R package to detect footprints of selection in genome-wide SNP data from haplotype structure. Gautier M, Vitalis R, Bioinformatics 2012 28 1176 1177 10.1093/bioinformatics/bts115 22402612
    • (2012) Bioinformatics , vol.28 , pp. 1176-1177
    • Gautier, M.1    Vitalis, R.2
  • 44
    • 33746693757 scopus 로고    scopus 로고
    • Genomic signatures of positive selection in humans and the limits of outlier approaches
    • DOI 10.1101/gr.5157306
    • Genomic signatures of positive selection in humans and the limits of outlier approaches. Kelley JL, Madeoy J, Calhoun JC, Swanson W, Akey JM, Genome Res 2006 16 980 989 10.1101/gr.5157306 16825663 (Pubitemid 44162257)
    • (2006) Genome Research , vol.16 , Issue.8 , pp. 980-989
    • Kelley, J.L.1    Madeoy, J.2    Calhoun, J.C.3    Swanson, W.4    Akey, J.M.5
  • 45
    • 55849095847 scopus 로고    scopus 로고
    • A practical genome scan for population-specific strong selective sweeps that have reached fixation
    • 10.1371/journal.pone.0000286 17356696
    • A practical genome scan for population-specific strong selective sweeps that have reached fixation. Kimura R, Fujimoto A, Tokunaga K, Ohashi J, PLoS One 2007 2 286 10.1371/journal.pone.0000286 17356696
    • (2007) PLoS One , vol.2 , pp. 5286
    • Kimura, R.1    Fujimoto, A.2    Tokunaga, K.3    Ohashi, J.4
  • 47
    • 77957108885 scopus 로고    scopus 로고
    • A powerful score test to detect positive selection in genome-wide scans
    • 10.1038/ejhg.2010.60 20461112
    • A powerful score test to detect positive selection in genome-wide scans. Zhong M, Lange K, Papp JC, Fan R, Europ J Hum Genet 2010 18 1148 1159 10.1038/ejhg.2010.60 20461112
    • (2010) Europ J Hum Genet , vol.18 , pp. 1148-1159
    • Zhong, M.1    Lange, K.2    Papp, J.C.3    Fan, R.4
  • 48
    • 0036911353 scopus 로고    scopus 로고
    • Interrogating a high-density SNP map for signitures of natural selection
    • DOI 10.1101/gr.631202
    • Interrogating a High-Density SNP Map for Signatures of Natural Selection. Akey JM, Zhang G, Zhang K, Jin L, Shriver MD, Genome Res 2002 12 1805 1814 10.1101/gr.631202 12466284 (Pubitemid 35469929)
    • (2002) Genome Research , vol.12 , Issue.12 , pp. 1805-1814
    • Akey, J.M.1    Zhang, G.2    Zhang, K.3    Jin, L.4    Shriver, M.D.5
  • 52
    • 40749158014 scopus 로고    scopus 로고
    • A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    • 10.1016/j.ajhg.2007.11.005 18252222
    • A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Sturm RA, Duffy DL, Zhao ZZ, Leite FPN, Stark MS, Hayward NK, Martin NG, Montgomery GW, Am J Hum Genet 2008 82 424 431 10.1016/j.ajhg.2007.11.005 18252222
    • (2008) Am J Hum Genet , vol.82 , pp. 424-431
    • Sturm, R.A.1    Duffy, D.L.2    Zhao, Z.Z.3    Leite, F.P.N.4    Stark, M.S.5    Hayward, N.K.6    Martin, N.G.7    Montgomery, G.W.8
  • 55
    • 84857192750 scopus 로고    scopus 로고
    • HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter
    • 10.1101/gr.128652.111 22234890
    • HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Visser M, Kayser M, Palstra RJ, Genome Res 2012 22 446 455 10.1101/gr.128652.111 22234890
    • (2012) Genome Res , vol.22 , pp. 446-455
    • Visser, M.1    Kayser, M.2    Palstra, R.J.3
  • 60
    • 84874778235 scopus 로고    scopus 로고
    • Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans
    • 10.1007/s00439-012-1232-9 23052946
    • Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans. Jacobs LC, Wollstein A, Lao O, Hofman A, Klaver CC, Uitterlinden AG, Nijsten T, Kayser M, Liu F, Hum Genet 2013 132 147 158 10.1007/s00439-012-1232-9 23052946
    • (2013) Hum Genet , vol.132 , pp. 147-158
    • Jacobs, L.C.1    Wollstein, A.2    Lao, O.3    Hofman, A.4    Klaver, C.C.5    Uitterlinden, A.G.6    Nijsten, T.7    Kayser, M.8    Liu, F.9
  • 62
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • DOI 10.1093/bioinformatics/bth457
    • Haploview: analysis and visualization of LD and haplotype maps. Barrett JC, Fry B, Maller J, Daly MJ, Bioinformatics 2005 21 263 265 10.1093/bioinformatics/bth457 15297300 (Pubitemid 40202029)
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 64
    • 37549022690 scopus 로고    scopus 로고
    • Evolution of vertebrate indoleamine 2,3-dioxygenases
    • 10.1007/s00239-007-9049-1 18026683
    • Evolution of vertebrate indoleamine 2,3-dioxygenases. Yuasa HJ, Takubo M, Takahashi A, Hasegawa T, Noma H, Suzuki T, J Mol Evol 2007 65 705 714 10.1007/s00239-007-9049-1 18026683
    • (2007) J Mol Evol , vol.65 , pp. 705-714
    • Yuasa, H.J.1    Takubo, M.2    Takahashi, A.3    Hasegawa, T.4    Noma, H.5    Suzuki, T.6
  • 65
    • 43549111377 scopus 로고    scopus 로고
    • Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects
    • Interactions between SNP alleles at multiple loci contribute to skin color differences between Caucasoid and Mongoloid subjects. Anno S, Abe T, Yamamoto T, Int J Biol Sci 2008 4 81 86 18392143 (Pubitemid 351872041)
    • (2008) International Journal of Biological Sciences , vol.4 , Issue.2 , pp. 81-86
    • Anno, S.1    Abe, T.2    Yamamoto, T.3
  • 70
    • 84868152411 scopus 로고    scopus 로고
    • Distinguishing between selective sweeps from standing variation and from a de novo mutation
    • 10.1371/journal.pgen.1003011 23071458
    • Distinguishing between selective sweeps from standing variation and from a de novo mutation. Peter BM, Huerta-Sanchez E, Nielsen R, PLoS Genet 2012 8 1003011 10.1371/journal.pgen.1003011 23071458
    • (2012) PLoS Genet , vol.8 , pp. 51003011
    • Peter, B.M.1    Huerta-Sanchez, E.2    Nielsen, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.