메뉴 건너뛰기




Volumn 171, Issue 6, 2017, Pages 1340-1353.e14

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

(18)  Martin, Alicia R a,b,c   Lin, Meng d   Granka, Julie M a,i   Myrick, Justin W d   Liu, Xiaomin e   Sockell, Alexandra a   Atkinson, Elizabeth G d   Werely, Cedric J f   Möller, Marlo f   Sandhu, Manjinder S g   Kingsley, David M a   Hoal, Eileen G f   Liu, Xiao e   Daly, Mark J b,c   Feldman, Marcus W a   Gignoux, Christopher R a,h   Bustamante, Carlos D a   Henn, Brenna M d  


Author keywords

Africa; heritability; human evolution; pigmentation; population genetics

Indexed keywords

BRM PROTEIN; TYROSINASE RELATED PROTEIN 1; VERY LOW DENSITY LIPOPROTEIN;

EID: 85036538923     PISSN: 00928674     EISSN: 10974172     Source Type: Journal    
DOI: 10.1016/j.cell.2017.11.015     Document Type: Article
Times cited : (124)

References (87)
  • 1
    • 0031966959 scopus 로고    scopus 로고
    • Multipoint quantitative-trait linkage analysis in general pedigrees
    • Almasy, L., Blangero, J., Multipoint quantitative-trait linkage analysis in general pedigrees. Am. J. Hum. Genet. 62 (1998), 1198–1211.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1198-1211
    • Almasy, L.1    Blangero, J.2
  • 3
    • 0033374429 scopus 로고    scopus 로고
    • Clines in polygenic traits
    • Barton, N.H., Clines in polygenic traits. Genet. Res. 74 (1999), 223–236.
    • (1999) Genet. Res. , vol.74 , pp. 223-236
    • Barton, N.H.1
  • 7
    • 84912077079 scopus 로고    scopus 로고
    • A population genetic signal of polygenic adaptation
    • Berg, J.J., Coop, G., A population genetic signal of polygenic adaptation. PLoS Genet. 10 (2014), e1004412–e1004425.
    • (2014) PLoS Genet. , vol.10 , pp. e1004412-e1004425
    • Berg, J.J.1    Coop, G.2
  • 8
    • 35348817330 scopus 로고    scopus 로고
    • Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    • Browning, S.R., Browning, B.L., Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am. J. Hum. Genet. 81 (2007), 1084–1097.
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 1084-1097
    • Browning, S.R.1    Browning, B.L.2
  • 9
    • 0019782864 scopus 로고
    • Quantitative genetics of human skin color
    • Byard, P.J., Quantitative genetics of human skin color. Am. J. Phys. Anthropol. 24:Suppl 2 (1981), 123–137.
    • (1981) Am. J. Phys. Anthropol. , vol.24 , pp. 123-137
    • Byard, P.J.1
  • 13
    • 5444271372 scopus 로고    scopus 로고
    • Geographic distribution of environmental factors influencing human skin coloration
    • Chaplin, G., Geographic distribution of environmental factors influencing human skin coloration. Am. J. Phys. Anthropol. 125 (2004), 292–302.
    • (2004) Am. J. Phys. Anthropol. , vol.125 , pp. 292-302
    • Chaplin, G.1
  • 14
    • 67650552869 scopus 로고    scopus 로고
    • Vitamin D and the evolution of human depigmentation
    • Chaplin, G., Jablonski, N.G., Vitamin D and the evolution of human depigmentation. Am. J. Phys. Anthropol. 139 (2009), 451–461.
    • (2009) Am. J. Phys. Anthropol. , vol.139 , pp. 451-461
    • Chaplin, G.1    Jablonski, N.G.2
  • 18
    • 84937846622 scopus 로고    scopus 로고
    • High-dose vitamin D3 reduces deficiency caused by low UVB exposure and limits HIV-1 replication in urban Southern Africans
    • Coussens, A.K., Naude, C.E., Goliath, R., Chaplin, G., Wilkinson, R.J., Jablonski, N.G., High-dose vitamin D3 reduces deficiency caused by low UVB exposure and limits HIV-1 replication in urban Southern Africans. Proc. Natl. Acad. Sci. USA 112 (2015), 8052–8057.
    • (2015) Proc. Natl. Acad. Sci. USA , vol.112 , pp. 8052-8057
    • Coussens, A.K.1    Naude, C.E.2    Goliath, R.3    Chaplin, G.4    Wilkinson, R.J.5    Jablonski, N.G.6
  • 20
    • 0021690251 scopus 로고
    • A portable instrument for quantifying erythema induced by ultraviolet radiation
    • Diffey, B.L., Oliver, R.J., Farr, P.M., A portable instrument for quantifying erythema induced by ultraviolet radiation. Br. J. Dermatol. 111 (1984), 663–672.
    • (1984) Br. J. Dermatol. , vol.111 , pp. 663-672
    • Diffey, B.L.1    Oliver, R.J.2    Farr, P.M.3
  • 24
    • 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
    • Edwards, M., Bigham, A., Tan, J., Li, S., Gozdzik, A., Ross, K., Jin, L., Parra, E.J., Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. PLoS Genet., 6, 2010, e1000867.
    • (2010) PLoS Genet. , vol.6 , pp. e1000867
    • 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
    • 0019869713 scopus 로고
    • Heritability and components of phenotypic expression in skin reflectance of Mestizos from the Peruvian lowlands
    • Frisancho, A.R., Wainwright, R., Way, A., Heritability and components of phenotypic expression in skin reflectance of Mestizos from the Peruvian lowlands. Am. J. Phys. Anthropol. 55 (1981), 203–208.
    • (1981) Am. J. Phys. Anthropol. , vol.55 , pp. 203-208
    • Frisancho, A.R.1    Wainwright, R.2    Way, A.3
  • 30
    • 84922273141 scopus 로고    scopus 로고
    • Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
    • Gusev, A., Lee, S.H., Trynka, G., Finucane, H., Vilhjálmsson, B.J., Xu, H., Zang, C., Ripke, S., Bulik-Sullivan, B., Stahl, E., et al. Schizophrenia Working Group of the Psychiatric Genomics Consortium SWE-SCZ Consortium Schizophrenia Working Group of the Psychiatric Genomics Consortium, SWE-SCZ Consortium. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am. J. Hum. Genet. 95 (2014), 535–552.
    • (2014) Am. J. Hum. Genet. , vol.95 , pp. 535-552
    • Gusev, A.1    Lee, S.H.2    Trynka, G.3    Finucane, H.4    Vilhjálmsson, B.J.5    Xu, H.6    Zang, C.7    Ripke, S.8    Bulik-Sullivan, B.9    Stahl, E.10
  • 31
    • 0001922298 scopus 로고
    • Studies on the inheritance of human skin colour
    • Harrison, G.A., Owen, J.J.T., Studies on the inheritance of human skin colour. Ann. Hum. Genet. 28 (1964), 27–37.
    • (1964) Ann. Hum. Genet. , vol.28 , pp. 27-37
    • Harrison, G.A.1    Owen, J.J.T.2
  • 35
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie, B.N., Donnelly, P., Marchini, J., A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet., 5, 2009, e1000529.
    • (2009) PLoS Genet. , vol.5 , pp. e1000529
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 36
    • 77952326915 scopus 로고    scopus 로고
    • Colloquium paper: human skin pigmentation as an adaptation to UV radiation
    • Jablonski, N.G., Chaplin, G., Colloquium paper: human skin pigmentation as an adaptation to UV radiation. Proc. Natl. Acad. Sci. USA 107:Suppl 2 (2010), 8962–8968.
    • (2010) Proc. Natl. Acad. Sci. USA , vol.107 , pp. 8962-8968
    • Jablonski, N.G.1    Chaplin, G.2
  • 37
    • 84897066833 scopus 로고    scopus 로고
    • The evolution of skin pigmentation and hair texture in people of African ancestry
    • Jablonski, N.G., Chaplin, G., The evolution of skin pigmentation and hair texture in people of African ancestry. Dermatol. Clin. 32 (2014), 113–121.
    • (2014) Dermatol. Clin. , vol.32 , pp. 113-121
    • Jablonski, N.G.1    Chaplin, G.2
  • 39
    • 73849126977 scopus 로고    scopus 로고
    • Heterogeneous SWI/SNF chromatin remodeling complexes promote expression of microphthalmia-associated transcription factor target genes in melanoma
    • Keenen, B., Qi, H., Saladi, S.V., Yeung, M., de la Serna, I.L., Heterogeneous SWI/SNF chromatin remodeling complexes promote expression of microphthalmia-associated transcription factor target genes in melanoma. Oncogene 29 (2010), 81–92.
    • (2010) Oncogene , vol.29 , pp. 81-92
    • Keenen, B.1    Qi, H.2    Saladi, S.V.3    Yeung, M.4    de la Serna, I.L.5
  • 40
    • 73849126977 scopus 로고    scopus 로고
    • Heterogeneous SWI/SNF chromatin remodeling complexes promote expression of microphthalmia-associated transcription factor target genes in melanoma
    • Keenen, B., Qi, H., Saladi, S.V., Yeung, M., de la Serna, I.L., Heterogeneous SWI/SNF chromatin remodeling complexes promote expression of microphthalmia-associated transcription factor target genes in melanoma. Oncogene 29 (2010), 81–92.
    • (2010) Oncogene , vol.29 , pp. 81-92
    • Keenen, B.1    Qi, H.2    Saladi, S.V.3    Yeung, M.4    de la Serna, I.L.5
  • 43
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li, H., Durbin, R., Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25 (2009), 1754–1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 46
    • 84881665614 scopus 로고    scopus 로고
    • RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference
    • Maples, B.K., Gravel, S., Kenny, E.E., Bustamante, C.D., RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference. Am. J. Hum. Genet. 93 (2013), 278–288.
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 278-288
    • Maples, B.K.1    Gravel, S.2    Kenny, E.E.3    Bustamante, C.D.4
  • 50
    • 36849071407 scopus 로고    scopus 로고
    • cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebacks and humans
    • Miller, C.T., Beleza, S., Pollen, A.A., Schluter, D., Kittles, R.A., Shriver, M.D., Kingsley, D.M., cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebacks and humans. Cell 131 (2007), 1179–1189.
    • (2007) Cell , vol.131 , pp. 1179-1189
    • Miller, C.T.1    Beleza, S.2    Pollen, A.A.3    Schluter, D.4    Kittles, R.A.5    Shriver, M.D.6    Kingsley, D.M.7
  • 55
    • 84897032014 scopus 로고    scopus 로고
    • The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction
    • Pośpiech, E., Wojas-Pelc, A., Walsh, S., Liu, F., Maeda, H., Ishikawa, T., Skowron, M., Kayser, M., Branicki, W., The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction. Forensic Sci. Int. Genet. 11 (2014), 64–72.
    • (2014) Forensic Sci. Int. Genet. , vol.11 , pp. 64-72
    • Pośpiech, E.1    Wojas-Pelc, A.2    Walsh, S.3    Liu, F.4    Maeda, H.5    Ishikawa, T.6    Skowron, M.7    Kayser, M.8    Branicki, W.9
  • 58
    • 0033645986 scopus 로고    scopus 로고
    • Human skin color diversity is highest in sub-Saharan African populations
    • Relethford, J.H., Human skin color diversity is highest in sub-Saharan African populations. Hum. Biol. 72 (2000), 773–780.
    • (2000) Hum. Biol. , vol.72 , pp. 773-780
    • Relethford, J.H.1
  • 60
    • 0035542883 scopus 로고    scopus 로고
    • Tyrp1 and oculocutaneous albinism type 3
    • Sarangarajan, R., Boissy, R.E., Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 14 (2001), 437–444.
    • (2001) Pigment Cell Res. , vol.14 , pp. 437-444
    • Sarangarajan, R.1    Boissy, R.E.2
  • 64
    • 0034007025 scopus 로고    scopus 로고
    • Comparison of narrow-band reflectance spectroscopy and tristimulus colorimetry for measurements of skin and hair color in persons of different biological ancestry
    • Shriver, M.D., Parra, E.J., Comparison of narrow-band reflectance spectroscopy and tristimulus colorimetry for measurements of skin and hair color in persons of different biological ancestry. Am. J. Phys. Anthropol. 112 (2000), 17–27.
    • (2000) Am. J. Phys. Anthropol. , vol.112 , pp. 17-27
    • Shriver, M.D.1    Parra, E.J.2
  • 66
    • 63149157274 scopus 로고    scopus 로고
    • Molecular genetics of human pigmentation diversity
    • Sturm, R.A., Molecular genetics of human pigmentation diversity. Hum. Mol. Genet. 18:R1 (2009), R9–R17.
    • (2009) Hum. Mol. Genet. , vol.18 , Issue.R1 , pp. R9-R17
    • Sturm, R.A.1
  • 67
    • 84866785914 scopus 로고    scopus 로고
    • Human pigmentation genes under environmental selection
    • Sturm, R.A., Duffy, D.L., Human pigmentation genes under environmental selection. Genome Biol., 13, 2012, 248.
    • (2012) Genome Biol. , vol.13 , pp. 248
    • Sturm, R.A.1    Duffy, D.L.2
  • 73
    • 76349100965 scopus 로고    scopus 로고
    • SWI/SNF chromatin remodeling complex is critical for the expression of microphthalmia-associated transcription factor in melanoma cells
    • Vachtenheim, J., Ondrusová L., Borovanský J., SWI/SNF chromatin remodeling complex is critical for the expression of microphthalmia-associated transcription factor in melanoma cells. Biochem. Biophys. Res. Commun. 392 (2010), 454–459.
    • (2010) Biochem. Biophys. Res. Commun. , vol.392 , pp. 454-459
    • Vachtenheim, J.1    Ondrusová, L.2    Borovanský, J.3
  • 74
    • 84855865075 scopus 로고    scopus 로고
    • An early divergence of KhoeSan ancestors from those of other modern humans is supported by an ABC-based analysis of autosomal resequencing data
    • Veeramah, K.R., Wegmann, D., Woerner, A., Mendez, F.L., Watkins, J.C., Destro-Bisol, G., Soodyall, H., Louie, L., Hammer, M.F., An early divergence of KhoeSan ancestors from those of other modern humans is supported by an ABC-based analysis of autosomal resequencing data. Mol. Biol. Evol. 29 (2012), 617–630.
    • (2012) Mol. Biol. Evol. , vol.29 , pp. 617-630
    • Veeramah, K.R.1    Wegmann, D.2    Woerner, A.3    Mendez, F.L.4    Watkins, J.C.5    Destro-Bisol, G.6    Soodyall, H.7    Louie, L.8    Hammer, M.F.9
  • 76
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
    • Ward, L.D., Kellis, M., HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 40 (2012), D930–D934.
    • (2012) Nucleic Acids Res. , vol.40 , pp. D930-D934
    • Ward, L.D.1    Kellis, M.2
  • 78
    • 77955894071 scopus 로고    scopus 로고
    • METAL: fast and efficient meta-analysis of genomewide association scans
    • Willer, C.J., Li, Y., Abecasis, G.R., METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26 (2010), 2190–2191.
    • (2010) Bioinformatics , vol.26 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3
  • 79
    • 84908890496 scopus 로고    scopus 로고
    • Defining the role of common variation in the genomic and biological architecture of adult human height
    • Wood, A.R., Esko, T., Yang, J., Vedantam, S., Pers, T.H., Gustafsson, S., Chu, A.Y., Estrada, K., Luan, J., Kutalik, Z., et al. Electronic Medical Records and Genomics (eMEMERGEGE) Consortium MIGen Consortium PAGEGE Consortium, LifeLines Cohort Study. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46 (2014), 1173–1186.
    • (2014) Nat. Genet. , vol.46 , pp. 1173-1186
    • Wood, A.R.1    Esko, T.2    Yang, J.3    Vedantam, S.4    Pers, T.H.5    Gustafsson, S.6    Chu, A.Y.7    Estrada, K.8    Luan, J.9    Kutalik, Z.10
  • 80
    • 84884155752 scopus 로고    scopus 로고
    • Deletion of LRP5 in VLDLR knockout mice inhibits retinal neovascularization
    • Xia, C.-H., Lu, E., Zeng, J., Gong, X., Deletion of LRP5 in VLDLR knockout mice inhibits retinal neovascularization. PLoS ONE, 8, 2013, e75186.
    • (2013) PLoS ONE , vol.8 , pp. e75186
    • Xia, C.-H.1    Lu, E.2    Zeng, J.3    Gong, X.4
  • 82
    • 78650856517 scopus 로고    scopus 로고
    • GCTA: A Tool for Genome-wide Complex Trait Analysis.
    • Yang, J., Lee, S.H., Goddard, M.E., and Visscher, P.M. (2011). GCTA: A Tool for Genome-wide Complex Trait Analysis. 88, 76–82.
    • (2011) , vol.88 , pp. 76-82
    • Yang, J.1    Lee, S.H.2    Goddard, M.E.3    Visscher, P.M.4
  • 85
    • 85016598980 scopus 로고    scopus 로고
    • Investigating the case of human nose shape and climate adaptation
    • Zaidi, A.A., Mattern, B.C., Claes, P., McEcoy, B., Hughes, C., Shriver, M.D., Investigating the case of human nose shape and climate adaptation. PLoS Genet. 13 (2017), e1006616–e1006631.
    • (2017) PLoS Genet. , vol.13 , pp. e1006616-e1006631
    • Zaidi, A.A.1    Mattern, B.C.2    Claes, P.3    McEcoy, B.4    Hughes, C.5    Shriver, M.D.6
  • 86
    • 84878502589 scopus 로고    scopus 로고
    • Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits
    • Zaitlen, N., Kraft, P., Patterson, N., Pasaniuc, B., Bhatia, G., Pollack, S., Price, A.L., Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits. PLoS Genet., 9, 2013, e1003520.
    • (2013) PLoS Genet. , vol.9 , pp. e1003520
    • Zaitlen, N.1    Kraft, P.2    Patterson, N.3    Pasaniuc, B.4    Bhatia, G.5    Pollack, S.6    Price, A.L.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.