色素沉着基因与表型多样性研究进展
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摘要
人类色素沉着是由遗传因素和环境因素共同作用而导致身体不同部位的色素分布差异,主要由调节黑色素生成酶的相关基因决定。这些相关基因发生突变或者周围的单个核苷酸多态性(singlel-nucleotide polymorphisms, SNPs)被认为与各种色素沉着的表型密切相关。现通过对黑色素合成酶的相关基因及其临床表型的多样性进行综述,以对各种色素沉着相关疾病的发病机制有更加深入的了解。
引文
[1]MORT R L,JACKSON I J,PATTON E E.The melanocyte lineage in development and disease[J].Development,2015,142(7):620-632.
[2]SERRE C,BUSUTTIL V,BOTTO J M.Intrinsic and extrinsic regulation of human skin melanogenesis and pigmentation[J].Int JCosmet Sci,2018,40(4):328-347.
[3]GARCIA-BORRON J C,ABDEL-MALEK Z,JIMENEZ-CER-VANTES C.MC1R,the c AMP pathway,and the response to solar UV:extending the horizon beyond pigmentation[J].Pigment Cell Melanoma Res,2014,27(5):699-720.
[4]SWOPE V B,ABDEL-MALEK Z A.MC1R:Front and center in the bright side of dark eumelanin and DNA repair[J].Int J Mol Sci,2018,19(9):E2667.
[5]BERTOLOTTO C,LESUEUR F,GIULIANO S,et al.Corrigendum:A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma[J].Nature,2016,531(7592):126.
[6]BERTOLOTTO C,LESUEUR F,GIULIANO S,et al.A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma[J].Nature,2011,480(7375):94-98.
[7]TAYLOR N J,MITRA N,GOLDSTEIN A M,et al.Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families[J].J Invest Dermatol,2017,137(12):2606-2612.
[8]STURM R A,FOX C,MCCLENAHAN P,et al.Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients[J].J Invest Dermatol,2014,134(1):141-149.
[9]MACCIONI L,RACHAKONDA P S,SCHERER D,et al.Variants at chromosome 20(ASIP locus)and melanoma risk[J].Int J Cancer,2013,132(1):42-54.
[10]DUFFY D L,ZHAO Z Z,STURMR A,et al.Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma[J].J Invest Dermatol,2010,130(2):520-528.
[11]NORMAN C S,O'GORMAN L,GIBSON J,et al.Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene(TYR)causing hypomorphic oculocutaneous albinism(OCA1B)[J].Scientific Reports,2017,7(1):4415.
[12]CHALLA A K,BOITET E R,TURNER A N,et al.Novel hypomorphic alleles of the mouse tyrosinase gene induced by CRISPR-Cas9 nucleases cause non-albino pigmentation phenotypes[J].PLo S One,2016,11(5):e155812.
[13]AUTON A,BROOKS L D,DURBIN R M,et al.A global reference for human genetic variation[J].Nature,2015,526(7571):68-74.
[14]BINSTOCK M,HAFEEZ F,METCHNIKOFF C,et al.Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition:a systematic review[J].Br J Dermatol,2014,171(4):713-721.
[15]JIN Y,FERRARA T,GOWAN K,et al.Next-generation DNAre-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation[J].J Invest Dermatol,2012,132(6):1730-1733.
[16]PARK S,MORYA V K,NGUYEN D H,et al.Unrevealing the role of P-protein on melanosome biology and structure,using si R-NA-mediated down regulation of OCA2[J].Mol Cell Biochem,2015,403(1-2):61-71.
[17]ANDERSEN J D,PIETRONI C,JOHANSEN P,et al.Importance of nonsynonymous OCA2 variants in human eye color prediction[J].Mol Genet Genomic Med,2016,4(4):420-430.
[18]EATON K,EDWARDS M,KRITHIKA S,et al.Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations[J].Am J Hum Biol,2015,27(4):520-525.
[19]STURM R A,DUFFY D L,ZHAO Z Z,et al.A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color[J].Am J Hum Genet,2008,82(2):424-431.
[20]BARON A E,ASDIGIAN N L,GONZALEZ V,et al.Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes[J].Cancer Epidemiol Biomarkers Prev,2014,23(12):2829-2839.
[21]KENNY E E,TIMPSON N J,SIKORA M,et al.Melanesian blond hair is caused by an amino acid change in TYRP1[J].Science,2012,336(6081):554.
[22]KAMARAJ B,PUROHIT R.Mutational analysis on membrane associated transporter protein(MATP)and their structural consequences in oculocutaeous albinism type 4(oca4)-a molecular dynamics approach[J].J Cell Biochem,2016,117(11):2608-2619.
[23]BIN B H,BHIN J,YANG S H,et al.Membrane-Associated transporter protein(matp)regulates melanosomal ph and influences tyrosinase activity[J].PLo S One,2015,10(6):e129273.
[24]MONTOLIU L,GRФNSKOV K,WEI A H,et al.Increasing the complexity:new genes and new types of albinism[J].Pigment Cell Melanoma Res,2014,27(1):11-18.
[25]PRAETORIUS C,GRILL C,STACEY S N,et al.A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[J].Cell,2013,155(5):1022-1033.
[26]ORLOW I,SATAGOPAN J M,BERWICK M,et al.Genetic factors associated with naevus count and dermoscopic patterns:preliminary results from the study of nevi in children(SONIC)[J].Br J Dermatol,2015,172(4):1081-1089.
[27]CHRISTIAN P,STURMR A,EIRIKUR S.Sun-induced freckling:ephelides and solar lentigines[J].Pigment Cell Melanoma Res,2014,27(3):339-350.
[28]GIBBS D C,ORLOW I,BRAMSON J I,et al.Association of interferon regulatory factor-4 polymorphism rs12203592 with divergent melanoma pathways[J].J Natl Cancer Inst,2016,108(7)pii djw004.
[29]POTRONY M,REBOLLO-MORELL A,GIMENEZ-XAVIER P,et al.IRF4 rs12203592 functional variant and melanoma survival[J].Int J Cancer,2017,140(8):1845-1849.
[30]KVASKOFF M,WHITEMAN D C,ZHAO Z Z,et al.Polymorphisms in nevus-associated genes MTAP,PLA2G6,and IRF4 and the risk of invasive cutaneous melanoma[J].Twin Res Hum Genet,2011,14(5):422-432.
[31]KRYUKOV G V,WILSON F H,RUTH J R,et al.MTAP deletion confers enhanced dependency on the PRMT5 arginine methyltransferase in cancer cells[J].Science,2016,351(6278):1214-1218.
[32]MAVRAKIS K J,MCDONALD E R,SCHLABACH M R,et al.Disordered methionine metabolism in MTAP/CDKN2A-deleted cancers leads todependence on PRMT5[J].Science,2016,351(6278):1208-1213.
[33]FALCHI M,BATAILLE V,HAYWARD N K,et al.Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi[J].Nat Genet,2009,41(8):915-919.
[34]KVASKOFF M,WHITEMAN D C,ZHAO Z Z,et al.Polymorphisms in nevus-associated genes MTAP,PLA2G6,and IRF4 and the risk of invasive cutaneous melanoma[J].Twin Res Hum Genet,2011,14(5):422-432.
[35]BAI M,YU N Z,LONG F,et al.Effects of CDKN2A(p16INK4A/p14ARF)over-expression on proliferation and migration of human melanoma a375 cells[J].Cell Physiol Biochem,2016,40(6):1367-1376.
[36]BOTTILLO I,LA STARZA R,RADIO F C,et al.A novel germline mutation in CDK4 codon 24 associated to familial melanoma[J].Clin Genet,2018,93(4):934-935.
[37]PUNTERVOLL H E,YANG X R,VETTI H H,et al.Melanoma prone families with CDK4 germline mutation:phenotypic profile and associations with MC1R variants[J].J Med Genet,2013,50(4):264-270.
[2]SERRE C,BUSUTTIL V,BOTTO J M.Intrinsic and extrinsic regulation of human skin melanogenesis and pigmentation[J].Int JCosmet Sci,2018,40(4):328-347.
[3]GARCIA-BORRON J C,ABDEL-MALEK Z,JIMENEZ-CER-VANTES C.MC1R,the c AMP pathway,and the response to solar UV:extending the horizon beyond pigmentation[J].Pigment Cell Melanoma Res,2014,27(5):699-720.
[4]SWOPE V B,ABDEL-MALEK Z A.MC1R:Front and center in the bright side of dark eumelanin and DNA repair[J].Int J Mol Sci,2018,19(9):E2667.
[5]BERTOLOTTO C,LESUEUR F,GIULIANO S,et al.Corrigendum:A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma[J].Nature,2016,531(7592):126.
[6]BERTOLOTTO C,LESUEUR F,GIULIANO S,et al.A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma[J].Nature,2011,480(7375):94-98.
[7]TAYLOR N J,MITRA N,GOLDSTEIN A M,et al.Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families[J].J Invest Dermatol,2017,137(12):2606-2612.
[8]STURM R A,FOX C,MCCLENAHAN P,et al.Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients[J].J Invest Dermatol,2014,134(1):141-149.
[9]MACCIONI L,RACHAKONDA P S,SCHERER D,et al.Variants at chromosome 20(ASIP locus)and melanoma risk[J].Int J Cancer,2013,132(1):42-54.
[10]DUFFY D L,ZHAO Z Z,STURMR A,et al.Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma[J].J Invest Dermatol,2010,130(2):520-528.
[11]NORMAN C S,O'GORMAN L,GIBSON J,et al.Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene(TYR)causing hypomorphic oculocutaneous albinism(OCA1B)[J].Scientific Reports,2017,7(1):4415.
[12]CHALLA A K,BOITET E R,TURNER A N,et al.Novel hypomorphic alleles of the mouse tyrosinase gene induced by CRISPR-Cas9 nucleases cause non-albino pigmentation phenotypes[J].PLo S One,2016,11(5):e155812.
[13]AUTON A,BROOKS L D,DURBIN R M,et al.A global reference for human genetic variation[J].Nature,2015,526(7571):68-74.
[14]BINSTOCK M,HAFEEZ F,METCHNIKOFF C,et al.Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition:a systematic review[J].Br J Dermatol,2014,171(4):713-721.
[15]JIN Y,FERRARA T,GOWAN K,et al.Next-generation DNAre-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation[J].J Invest Dermatol,2012,132(6):1730-1733.
[16]PARK S,MORYA V K,NGUYEN D H,et al.Unrevealing the role of P-protein on melanosome biology and structure,using si R-NA-mediated down regulation of OCA2[J].Mol Cell Biochem,2015,403(1-2):61-71.
[17]ANDERSEN J D,PIETRONI C,JOHANSEN P,et al.Importance of nonsynonymous OCA2 variants in human eye color prediction[J].Mol Genet Genomic Med,2016,4(4):420-430.
[18]EATON K,EDWARDS M,KRITHIKA S,et al.Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations[J].Am J Hum Biol,2015,27(4):520-525.
[19]STURM R A,DUFFY D L,ZHAO Z Z,et al.A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color[J].Am J Hum Genet,2008,82(2):424-431.
[20]BARON A E,ASDIGIAN N L,GONZALEZ V,et al.Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes[J].Cancer Epidemiol Biomarkers Prev,2014,23(12):2829-2839.
[21]KENNY E E,TIMPSON N J,SIKORA M,et al.Melanesian blond hair is caused by an amino acid change in TYRP1[J].Science,2012,336(6081):554.
[22]KAMARAJ B,PUROHIT R.Mutational analysis on membrane associated transporter protein(MATP)and their structural consequences in oculocutaeous albinism type 4(oca4)-a molecular dynamics approach[J].J Cell Biochem,2016,117(11):2608-2619.
[23]BIN B H,BHIN J,YANG S H,et al.Membrane-Associated transporter protein(matp)regulates melanosomal ph and influences tyrosinase activity[J].PLo S One,2015,10(6):e129273.
[24]MONTOLIU L,GRФNSKOV K,WEI A H,et al.Increasing the complexity:new genes and new types of albinism[J].Pigment Cell Melanoma Res,2014,27(1):11-18.
[25]PRAETORIUS C,GRILL C,STACEY S N,et al.A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[J].Cell,2013,155(5):1022-1033.
[26]ORLOW I,SATAGOPAN J M,BERWICK M,et al.Genetic factors associated with naevus count and dermoscopic patterns:preliminary results from the study of nevi in children(SONIC)[J].Br J Dermatol,2015,172(4):1081-1089.
[27]CHRISTIAN P,STURMR A,EIRIKUR S.Sun-induced freckling:ephelides and solar lentigines[J].Pigment Cell Melanoma Res,2014,27(3):339-350.
[28]GIBBS D C,ORLOW I,BRAMSON J I,et al.Association of interferon regulatory factor-4 polymorphism rs12203592 with divergent melanoma pathways[J].J Natl Cancer Inst,2016,108(7)pii djw004.
[29]POTRONY M,REBOLLO-MORELL A,GIMENEZ-XAVIER P,et al.IRF4 rs12203592 functional variant and melanoma survival[J].Int J Cancer,2017,140(8):1845-1849.
[30]KVASKOFF M,WHITEMAN D C,ZHAO Z Z,et al.Polymorphisms in nevus-associated genes MTAP,PLA2G6,and IRF4 and the risk of invasive cutaneous melanoma[J].Twin Res Hum Genet,2011,14(5):422-432.
[31]KRYUKOV G V,WILSON F H,RUTH J R,et al.MTAP deletion confers enhanced dependency on the PRMT5 arginine methyltransferase in cancer cells[J].Science,2016,351(6278):1214-1218.
[32]MAVRAKIS K J,MCDONALD E R,SCHLABACH M R,et al.Disordered methionine metabolism in MTAP/CDKN2A-deleted cancers leads todependence on PRMT5[J].Science,2016,351(6278):1208-1213.
[33]FALCHI M,BATAILLE V,HAYWARD N K,et al.Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi[J].Nat Genet,2009,41(8):915-919.
[34]KVASKOFF M,WHITEMAN D C,ZHAO Z Z,et al.Polymorphisms in nevus-associated genes MTAP,PLA2G6,and IRF4 and the risk of invasive cutaneous melanoma[J].Twin Res Hum Genet,2011,14(5):422-432.
[35]BAI M,YU N Z,LONG F,et al.Effects of CDKN2A(p16INK4A/p14ARF)over-expression on proliferation and migration of human melanoma a375 cells[J].Cell Physiol Biochem,2016,40(6):1367-1376.
[36]BOTTILLO I,LA STARZA R,RADIO F C,et al.A novel germline mutation in CDK4 codon 24 associated to familial melanoma[J].Clin Genet,2018,93(4):934-935.
[37]PUNTERVOLL H E,YANG X R,VETTI H H,et al.Melanoma prone families with CDK4 germline mutation:phenotypic profile and associations with MC1R variants[J].J Med Genet,2013,50(4):264-270.