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Volumn 134, Issue 8, 2015, Pages 823-835

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

(26)  Liu, Fan a   Visser, Mijke a   Duffy, David L b   Hysi, Pirro G c   Jacobs, Leonie C a   Lao, Oscar a,g   Zhong, Kaiyin a   Walsh, Susan a,d   Chaitanya, Lakshmi a   Wollstein, Andreas a,e   Zhu, Gu b   Montgomery, Grant W b   Henders, Anjali K b   Mangino, Massimo c   Glass, Daniel c   Bataille, Veronique c   Sturm, Richard A f   Rivadeneira, Fernando a   Hofman, Albert a   van IJcken, Wilfred F J a   more..


Author keywords

[No Author keywords available]

Indexed keywords

DNA; HERC2 PROTEIN; INTERFERON REGULATORY FACTOR 4; MC1R PROTEIN; OCA2 PROTEIN; PROTEIN; TRANSCRIPTOME; UNCLASSIFIED DRUG; AGOUTI PROTEIN; ASIP PROTEIN, HUMAN; CARRIER PROTEIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HERC2 PROTEIN, HUMAN; INTERFERON REGULATORY FACTOR; INTERFERON REGULATORY FACTOR-4; SLC45A2 PROTEIN, HUMAN; TUMOR ANTIGEN;

EID: 84937519781     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1559-0     Document Type: Article
Times cited : (128)

References (51)
  • 1
    • 0036338150 scopus 로고    scopus 로고
    • Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
    • COI: 1:CAS:528:DC%2BD38XivVGjtg%3D%3D, PID: 11731797
    • Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin—rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97–101. doi:10.1038/ng786
    • (2002) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 2
    • 84858216396 scopus 로고    scopus 로고
    • Glutathione as an oral whitening agent: a randomized, double-blind, placebo-controlled study
    • COI: 1:CAS:528:DC%2BC38XktVaisb4%3D, PID: 20524875
    • Arjinpathana N, Asawanonda P (2012) Glutathione as an oral whitening agent: a randomized, double-blind, placebo-controlled study. J Dermatolog Treat 23:97–102. doi:10.3109/09546631003801619
    • (2012) J Dermatolog Treat , vol.23 , pp. 97-102
    • Arjinpathana, N.1    Asawanonda, P.2
  • 5
    • 34547628858 scopus 로고    scopus 로고
    • Family-based association tests for genomewide association scans
    • COI: 1:CAS:528:DC%2BD2sXht1KmsL%2FL, PID: 17924335
    • Chen WM, Abecasis GR (2007) Family-based association tests for genomewide association scans. Am J Hum Genet 81:913–926. doi:10.1086/521580
    • (2007) Am J Hum Genet , vol.81 , pp. 913-926
    • Chen, W.M.1    Abecasis, G.R.2
  • 6
    • 84904500842 scopus 로고    scopus 로고
    • UV signaling pathways within the skin
    • COI: 1:CAS:528:DC%2BC2cXmslamtbY%3D, PID: 24759085
    • Chen H, Weng QY, Fisher DE (2014) UV signaling pathways within the skin. J Invest Dermatol 134:2080–2085. doi:10.1038/jid.2014.161
    • (2014) J Invest Dermatol , vol.134 , pp. 2080-2085
    • Chen, H.1    Weng, Q.Y.2    Fisher, D.E.3
  • 9
    • 75549084094 scopus 로고    scopus 로고
    • Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
    • COI: 1:CAS:528:DC%2BC3cXntVansQ%3D%3D, PID: 19710684
    • Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW (2010) Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol 130:520–528. doi:10.1038/jid.2009.258
    • (2010) J Invest Dermatol , vol.130 , pp. 520-528
    • Duffy, D.L.1    Zhao, Z.Z.2    Sturm, R.A.3    Hayward, N.K.4    Martin, N.G.5    Montgomery, G.W.6
  • 10
    • 39549097952 scopus 로고    scopus 로고
    • Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
    • COI: 1:CAS:528:DC%2BD1cXitVSru7w%3D, PID: 18172690
    • Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L (2008) Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet 123:177–187. doi:10.1007/s00439-007-0460-x
    • (2008) Hum Genet , vol.123 , pp. 177-187
    • Eiberg, H.1    Troelsen, J.2    Nielsen, M.3    Mikkelsen, A.4    Mengel-From, J.5    Kjaer, K.W.6    Hansen, L.7
  • 11
    • 0023882897 scopus 로고
    • The validity and practicality of sun-reactive skin types I through VI
    • COI: 1:STN:280:DyaL1c3jvFKqug%3D%3D, PID: 3377516
    • Fitzpatrick TB (1988) The validity and practicality of sun-reactive skin types I through VI. Arch Dermatol 124:869–871
    • (1988) Arch Dermatol , vol.124 , pp. 869-871
    • Fitzpatrick, T.B.1
  • 12
    • 84868318661 scopus 로고    scopus 로고
    • Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes
    • COI: 1:CAS:528:DC%2BC38Xhs1ektr%2FO, PID: 23019145
    • Gorkin DU, Lee D, Reed X, Fletez-Brant C, Bessling SL, Loftus SK, Beer MA, Pavan WJ, McCallion AS (2012) Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes. Genome Res 22:2290–2301. doi:10.1101/gr.139360.112
    • (2012) Genome Res , vol.22 , pp. 2290-2301
    • Gorkin, D.U.1    Lee, D.2    Reed, X.3    Fletez-Brant, C.4    Bessling, S.L.5    Loftus, S.K.6    Beer, M.A.7    Pavan, W.J.8    McCallion, A.S.9
  • 14
    • 0013942540 scopus 로고
    • Glutathione and human pigmentation
    • COI: 1:CAS:528:DyaF28XkslGrs7Y%3D, PID: 4951818
    • Halprin KM, Ohkawara A (1966) Glutathione and human pigmentation. Arch Dermatol 94:355–357
    • (1966) Arch Dermatol , vol.94 , pp. 355-357
    • Halprin, K.M.1    Ohkawara, A.2
  • 16
    • 64549114921 scopus 로고    scopus 로고
    • Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice
    • COI: 1:CAS:528:DC%2BD1MXktV2hur8%3D, PID: 19168544
    • Heaney JD, Michelson MV, Youngren KK, Lam MY, Nadeau JH (2009) Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice. Hum Mol Genet 18:1395–1404. doi:10.1093/hmg/ddp045
    • (2009) Hum Mol Genet , vol.18 , pp. 1395-1404
    • Heaney, J.D.1    Michelson, M.V.2    Youngren, K.K.3    Lam, M.Y.4    Nadeau, J.H.5
  • 18
    • 0037902622 scopus 로고    scopus 로고
    • The IFPCS presidential lecture: a chemist’s view of melanogenesis
    • COI: 1:CAS:528:DC%2BD3sXkslemtL8%3D, PID: 12753395
    • Ito S (2003) The IFPCS presidential lecture: a chemist’s view of melanogenesis. Pigment Cell Res 16:230–236
    • (2003) Pigment Cell Res , vol.16 , pp. 230-236
    • Ito, S.1
  • 19
    • 84874778235 scopus 로고    scopus 로고
    • Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans
    • PID: 23052946
    • Jacobs LC, Wollstein A, Lao O, Hofman A, Klaver CC, Uitterlinden AG, Nijsten T, Kayser M, Liu F (2012) Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans. Hum Genet 132:147–158. doi:10.1007/s00439-012-1232-9
    • (2012) 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
  • 20
    • 0023756136 scopus 로고
    • The role of sulfhydryl compounds in mammalian melanogenesis: the effect of cysteine and glutathione upon tyrosinase and the intermediates of the pathway
    • COI: 1:CAS:528:DyaL1MXltFyi, PID: 2903772
    • Jara JR, Aroca P, Solano F, Martinez JH, Lozano JA (1988) The role of sulfhydryl compounds in mammalian melanogenesis: the effect of cysteine and glutathione upon tyrosinase and the intermediates of the pathway. Biochim Biophys Acta 967:296–303
    • (1988) Biochim Biophys Acta , vol.967 , pp. 296-303
    • Jara, J.R.1    Aroca, P.2    Solano, F.3    Martinez, J.H.4    Lozano, J.A.5
  • 21
    • 0026099804 scopus 로고
    • The epidermal melanin unit in the pathophysiology of malignant melanoma
    • COI: 1:STN:280:DyaK3M3ivFaguw%3D%3D, PID: 2029092
    • Jimbow K, Salopek TG, Dixon WT, Searles GE, Yamada K (1991) The epidermal melanin unit in the pathophysiology of malignant melanoma. Am J Dermatopathol 13:179–188
    • (1991) Am J Dermatopathol , vol.13 , pp. 179-188
    • Jimbow, K.1    Salopek, T.G.2    Dixon, W.T.3    Searles, G.E.4    Yamada, K.5
  • 22
    • 84930633896 scopus 로고    scopus 로고
    • Forensic DNA phenotyping: predicting human appearance from crime scene material for investigative purposes
    • Kayser M (2015) Forensic DNA phenotyping: predicting human appearance from crime scene material for investigative purposes. Forensic Sci Int Genet. doi:10.1016/j.fsigen.2015.02.003
    • (2015) Forensic Sci Int Genet
    • Kayser, M.1
  • 23
    • 79951787403 scopus 로고    scopus 로고
    • Improving human forensics through advances in genetics, genomics and molecular biology
    • COI: 1:CAS:528:DC%2BC3MXitVOhu7g%3D, PID: 21331090
    • Kayser M, de Knijff P (2011) Improving human forensics through advances in genetics, genomics and molecular biology. Nat Rev Genet 12:179–192. doi:10.1038/Nrg2952
    • (2011) Nat Rev Genet , vol.12 , pp. 179-192
    • Kayser, M.1    de Knijff, P.2
  • 25
    • 33747882661 scopus 로고    scopus 로고
    • MITF: master regulator of melanocyte development and melanoma oncogene
    • COI: 1:CAS:528:DC%2BD28Xosl2qsb0%3D, PID: 16899407
    • Levy C, Khaled M, Fisher DE (2006) MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med 12:406–414. doi:10.1016/j.molmed.2006.07.008
    • (2006) Trends Mol Med , vol.12 , pp. 406-414
    • Levy, C.1    Khaled, M.2    Fisher, D.E.3
  • 30
    • 84883270235 scopus 로고    scopus 로고
    • Colorful DNA polymorphisms in humans
    • COI: 1:CAS:528:DC%2BC3sXntF2rs7g%3D, PID: 23587773
    • Liu F, Wen B, Kayser M (2013) Colorful DNA polymorphisms in humans. Semin Cell Dev Biol 24:562–575. doi:10.1016/j.semcdb.2013.03.013
    • (2013) Semin Cell Dev Biol , vol.24 , pp. 562-575
    • Liu, F.1    Wen, B.2    Kayser, M.3
  • 33
    • 79956042667 scopus 로고    scopus 로고
    • Melanocyte stem cells: a melanocyte reservoir in hair follicles for hair and skin pigmentation
    • COI: 1:CAS:528:DC%2BC3MXos1Sgtr4%3D, PID: 21466661
    • Nishimura EK (2011) Melanocyte stem cells: a melanocyte reservoir in hair follicles for hair and skin pigmentation. Pigment Cell Melanoma Res 24:401–410. doi:10.1111/j.1755-148X.2011.00855.x
    • (2011) Pigment Cell Melanoma Res , vol.24 , pp. 401-410
    • Nishimura, E.K.1
  • 35
    • 84884216651 scopus 로고    scopus 로고
    • Normal and abnormal skin color
    • PID: 23522626
    • Ortonne JP (2012) Normal and abnormal skin color. Ann Dermatol Venereol 139(Suppl 4):S125–S129. doi:10.1016/S0151-9638(12)70123-0
    • (2012) Ann Dermatol Venereol , vol.139 , pp. S125-S129
    • Ortonne, J.P.1
  • 36
    • 84894038233 scopus 로고    scopus 로고
    • Red human hair pheomelanin is a potent pro-oxidant mediating UV-independent contributory mechanisms of melanomagenesis
    • COI: 1:CAS:528:DC%2BC2cXivFWgtr4%3D, PID: 24387634
    • Panzella L, Leone L, Greco G, Vitiello G, D’Errico G, Napolitano A, d’Ischia M (2014) Red human hair pheomelanin is a potent pro-oxidant mediating UV-independent contributory mechanisms of melanomagenesis. Pigment Cell Melanoma Res 27:244–252. doi:10.1111/pcmr.12199
    • (2014) Pigment Cell Melanoma Res , vol.27 , pp. 244-252
    • Panzella, L.1    Leone, L.2    Greco, G.3    Vitiello, G.4    D’Errico, G.5    Napolitano, A.6    d’Ischia, M.7
  • 42
    • 79956120349 scopus 로고    scopus 로고
    • Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma
    • COI: 1:CAS:528:DC%2BC3MXps1aisg%3D%3D, PID: 21258399
    • Strub T, Giuliano S, Ye T, Bonet C, Keime C, Kobi D, Le Gras S, Cormont M, Ballotti R, Bertolotto C, Davidson I (2011) Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma. Oncogene 30:2319–2332. doi:10.1038/onc.2010.612
    • (2011) Oncogene , vol.30 , pp. 2319-2332
    • Strub, T.1    Giuliano, S.2    Ye, T.3    Bonet, C.4    Keime, C.5    Kobi, D.6    Le Gras, S.7    Cormont, M.8    Ballotti, R.9    Bertolotto, C.10    Davidson, I.11
  • 43
    • 63149157274 scopus 로고    scopus 로고
    • Molecular genetics of human pigmentation diversity
    • COI: 1:CAS:528:DC%2BD1MXjsFSntrs%3D, PID: 19297406
    • Sturm RA (2009) Molecular genetics of human pigmentation diversity. Hum Mol Genet 18:R9–17. doi:10.1093/hmg/ddp003
    • (2009) Hum Mol Genet , vol.18 , pp. R9-R17
    • Sturm, R.A.1
  • 44
    • 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
    • COI: 1:CAS:528:DC%2BD1cXit1Sisr4%3D, PID: 18252222
    • Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW (2008) A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet 82:424–431. doi:10.1016/j.ajhg.2007.11.005
    • (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.4    Stark, M.S.5    Hayward, N.K.6    Martin, N.G.7    Montgomery, G.W.8
  • 47
    • 84857192750 scopus 로고    scopus 로고
    • HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter
    • COI: 1:CAS:528:DC%2BC38XjsV2lsLY%3D, PID: 22234890
    • Visser M, Kayser M, Palstra RJ (2012) HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res 22:446–455. doi:10.1101/gr.128652.111
    • (2012) Genome Res , vol.22 , pp. 446-455
    • Visser, M.1    Kayser, M.2    Palstra, R.J.3
  • 48
    • 84911453998 scopus 로고    scopus 로고
    • Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene
    • Visser M, Palstra RJ, Kayser M (2014) Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene. Hum Mol Genet. doi:10.1093/hmg/ddu289
    • (2014) Hum Mol Genet
    • Visser, M.1    Palstra, R.J.2    Kayser, M.3
  • 49
    • 84939573323 scopus 로고    scopus 로고
    • Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter
    • PID: 25631878
    • Visser M, Palstra RJ, Kayser M (2015) Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter. Hum Mol Genet 24:2649–2661. doi:10.1093/hmg/ddv029
    • (2015) Hum Mol Genet , vol.24 , pp. 2649-2661
    • Visser, M.1    Palstra, R.J.2    Kayser, M.3
  • 51
    • 67649216556 scopus 로고    scopus 로고
    • Physiological factors that regulate skin pigmentation
    • COI: 1:CAS:528:DC%2BD1MXnsVSls7w%3D, PID: 19449448
    • Yamaguchi Y, Hearing VJ (2009) Physiological factors that regulate skin pigmentation. BioFactors 35:193–199. doi:10.1002/biof.29
    • (2009) BioFactors , vol.35 , pp. 193-199
    • Yamaguchi, Y.1    Hearing, V.J.2


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