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Volumn 129, Issue 2, 2009, Pages 392-405

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci

Author keywords

[No Author keywords available]

Indexed keywords

MELANIN; MEMBRANE PROTEIN; MESSENGER RNA; MONOPHENOL MONOOXYGENASE; PROTEIN MATP; PROTEIN OCA2; PROTEIN SLC24A5; UNCLASSIFIED DRUG;

EID: 58549104534     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.211     Document Type: Article
Times cited : (96)

References (77)
  • 1
    • 0027732667 scopus 로고
    • Contribution of melanogenic proteins to the heterogeneous pigmentation of human melanocytes
    • Abdel-Malek Z, Swope V, Collins C, Boissy R, Zhao H, Nordlund J (1993) Contribution of melanogenic proteins to the heterogeneous pigmentation of human melanocytes. J Cell Sci 106(Part 4):1323-31
    • (1993) J Cell Sci , vol.106 , Issue.PART 4 , pp. 1323-1331
    • Abdel-Malek, Z.1    Swope, V.2    Collins, C.3    Boissy, R.4    Zhao, H.5    Nordlund, J.6
  • 3
    • 0031724470 scopus 로고    scopus 로고
    • Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo
    • Aksan I, Goding CR (1998) Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo. Mol Cell Biol 18:6930-8
    • (1998) Mol Cell Biol , vol.18 , pp. 6930-6938
    • Aksan, I.1    Goding, C.R.2
  • 4
    • 0036091810 scopus 로고    scopus 로고
    • Ethnic variation in melanin content and composition in photoexposed and photoprotected human skin
    • Alaluf S, Atkins D, Barrett K, Blount M, Carter N, Heath A (2002) Ethnic variation in melanin content and composition in photoexposed and photoprotected human skin. Pigment Cell Res 15:112-8
    • (2002) Pigment Cell Res , vol.15 , pp. 112-118
    • Alaluf, S.1    Atkins, D.2    Barrett, K.3    Blount, M.4    Carter, N.5    Heath, A.6
  • 5
    • 0035996989 scopus 로고    scopus 로고
    • The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development
    • Baxter LL, Pavan WJ (2002) The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Mech Dev 116:209-12
    • (2002) Mech Dev , vol.116 , pp. 209-212
    • Baxter, L.L.1    Pavan, W.J.2
  • 6
    • 26444449038 scopus 로고    scopus 로고
    • Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk
    • Beaumont KA, Newton RA, Smit DJ, Leonard JH, Stow JL, Sturm RA (2005) Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum Mol Genet 14:2145-54
    • (2005) Hum Mol Genet , vol.14 , pp. 2145-2154
    • Beaumont, K.A.1    Newton, R.A.2    Smit, D.J.3    Leonard, J.H.4    Stow, J.L.5    Sturm, R.A.6
  • 8
    • 0347765695 scopus 로고    scopus 로고
    • Mitf expression is sufficient to direct differentiation of medaka bluastula derived stem cells to melanocytes
    • Bejar J, Hong Y, Schartl M (2003) Mitf expression is sufficient to direct differentiation of medaka bluastula derived stem cells to melanocytes. Development 130:6545-53
    • (2003) Development , vol.130 , pp. 6545-6553
    • Bejar, J.1    Hong, Y.2    Schartl, M.3
  • 9
    • 0042697470 scopus 로고    scopus 로고
    • The color loci of mice - a genetic century
    • Bennett DC, Lamoreux ML (2003) The color loci of mice - a genetic century. Pigment Cell Res 16:333-44
    • (2003) Pigment Cell Res , vol.16 , pp. 333-344
    • Bennett, D.C.1    Lamoreux, M.L.2
  • 10
  • 11
    • 0035985173 scopus 로고    scopus 로고
    • Pink-eyed dilution protein controls the processing of tyrosinase
    • Chen K, Manga P, Orlow SJ (2002) Pink-eyed dilution protein controls the processing of tyrosinase. Mol Biol Cell 13:1953-64
    • (2002) Mol Biol Cell , vol.13 , pp. 1953-1964
    • Chen, K.1    Manga, P.2    Orlow, S.J.3
  • 12
    • 0842305817 scopus 로고    scopus 로고
    • Correction of defective early tyrosinase processing by bafilomycin A1 and monensin in pink-eyed dilution melanocytes
    • Chen K, Minwalla L, Ni L, Orlow SJ (2004) Correction of defective early tyrosinase processing by bafilomycin A1 and monensin in pink-eyed dilution melanocytes. Pigment Cell Res 17:36-42
    • (2004) Pigment Cell Res , vol.17 , pp. 36-42
    • Chen, K.1    Minwalla, L.2    Ni, L.3    Orlow, S.J.4
  • 14
    • 0242490087 scopus 로고    scopus 로고
    • Human melanoblasts in culture: Expression of BRN2 and synergistic regulation by fibroblast growth factor-2, stem cell factor, and endothelin-3
    • Cook AL, Donatien PD, Smith AG, Murphy M, Jones MK, Herlyn M et al. (2003) Human melanoblasts in culture: expression of BRN2 and synergistic regulation by fibroblast growth factor-2, stem cell factor, and endothelin-3. J Invest Dermatol 121:1150-9
    • (2003) J Invest Dermatol , vol.121 , pp. 1150-1159
    • Cook, A.L.1    Donatien, P.D.2    Smith, A.G.3    Murphy, M.4    Jones, M.K.5    Herlyn, M.6
  • 15
    • 22144462047 scopus 로고    scopus 로고
    • Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro
    • Cook AL, Smith AG, Smit DJ, Leonard JH, Sturm RA (2005) Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro. Exp Cell Res 308:222-35
    • (2005) Exp Cell Res , vol.308 , pp. 222-235
    • Cook, A.L.1    Smith, A.G.2    Smit, D.J.3    Leonard, J.H.4    Sturm, R.A.5
  • 16
    • 0041885144 scopus 로고    scopus 로고
    • Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4
    • Costin GE, Valencia JC, Vieira WD, Lamoreux ML, Hearing VJ (2003) Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. J Cell Sci 116:3203-12
    • (2003) J Cell Sci , vol.116 , pp. 3203-3212
    • Costin, G.E.1    Valencia, J.C.2    Vieira, W.D.3    Lamoreux, M.L.4    Hearing, V.J.5
  • 17
    • 0035253584 scopus 로고    scopus 로고
    • Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography
    • Devaney JM, Pettit EL, Kaler SG, Vallone PM, Butler JM, Marino MA (2001) Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography. Anal Chem 73:620-4
    • (2001) Anal Chem , vol.73 , pp. 620-624
    • Devaney, J.M.1    Pettit, E.L.2    Kaler, S.G.3    Vallone, P.M.4    Butler, J.M.5    Marino, M.A.6
  • 18
    • 0037016715 scopus 로고    scopus 로고
    • Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF
    • Du J, Fisher DE (2002) Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J Biol Chem 277:402-6
    • (2002) J Biol Chem , vol.277 , pp. 402-406
    • Du, J.1    Fisher, D.E.2
  • 20
    • 33846617194 scopus 로고    scopus 로고
    • A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
    • Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR et al. (2007) A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet 80:241-52
    • (2007) Am J Hum Genet , vol.80 , pp. 241-252
    • Duffy, D.L.1    Montgomery, G.W.2    Chen, W.3    Zhao4    ZZ, L.L.5    James, M.R.6
  • 21
    • 0028878474 scopus 로고
    • Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
    • Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE et al. (1995) Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 9:92-5
    • (1995) Nat Genet , vol.9 , pp. 92-95
    • Fukai, K.1    Holmes, S.A.2    Lucchese, N.J.3    Siu, V.M.4    Weleber, R.G.5    Schnur, R.E.6
  • 22
    • 0034928757 scopus 로고    scopus 로고
    • Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
    • Fukamachi S, Shimada A, Shima A (2001) Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet 28:381-5
    • (2001) Nat Genet , vol.28 , pp. 381-385
    • Fukamachi, S.1    Shimada, A.2    Shima, A.3
  • 23
    • 0035862188 scopus 로고    scopus 로고
    • Regulation of the catalytic activity of preexisting tyrosinase in black and Caucasian human melanocyte cell cultures
    • Fuller BB, Spaulding DT, Smith DR (2001) Regulation of the catalytic activity of preexisting tyrosinase in black and Caucasian human melanocyte cell cultures. Exp Cell Res 262:197-208
    • (2001) Exp Cell Res , vol.262 , pp. 197-208
    • Fuller, B.B.1    Spaulding, D.T.2    Smith, D.R.3
  • 24
    • 0026686945 scopus 로고
    • The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes
    • Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA et al. (1992) The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257:1121-4
    • (1992) Science , vol.257 , pp. 1121-1124
    • Gardner, J.M.1    Nakatsu, Y.2    Gondo, Y.3    Lee, S.4    Lyon, M.F.5    King, R.A.6
  • 25
    • 41949113247 scopus 로고    scopus 로고
    • SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis
    • Ginger RS, Askew SE, Ogborne RM, Wilson S, Ferdinando D, Dadd T et al. (2008) SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. J Biol Chem 283:5486-95
    • (2008) J Biol Chem , vol.283 , pp. 5486-5495
    • Ginger, R.S.1    Askew, S.E.2    Ogborne, R.M.3    Wilson, S.4    Ferdinando, D.5    Dadd, T.6
  • 26
    • 0035969948 scopus 로고    scopus 로고
    • Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography
    • Giordano M, Mellai M, Hoogendoorn B, Momigliano-Richiardi P (2001) Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography. J Biochem Biophys Methods 47:101-10
    • (2001) J Biochem Biophys Methods , vol.47 , pp. 101-110
    • Giordano, M.1    Mellai, M.2    Hoogendoorn, B.3    Momigliano-Richiardi, P.4
  • 27
    • 14944367557 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation
    • Graf J, Hodgson R, van Daal A (2005) Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum Mutat 25:278-84
    • (2005) Hum Mutat , vol.25 , pp. 278-284
    • Graf, J.1    Hodgson, R.2    van Daal, A.3
  • 28
    • 34447263024 scopus 로고    scopus 로고
    • Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation
    • Graf J, Voisey J, Hughes I, van Daal A (2007) Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation. Hum Mutat 28:710-7
    • (2007) Hum Mutat , vol.28 , pp. 710-717
    • Graf, J.1    Voisey, J.2    Hughes, I.3    van Daal, A.4
  • 30
    • 44849091227 scopus 로고    scopus 로고
    • Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A et al. (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 4:e1000074
    • Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A et al. (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 4:e1000074
  • 31
    • 0023926352 scopus 로고
    • Growth characteristics of human epidermal melanocytes in pure culture with special reference to genetic differences
    • Hirobe T, Flynn E, Szabo G, Vrabel M, Garcia RI (1988) Growth characteristics of human epidermal melanocytes in pure culture with special reference to genetic differences. J Cell Physiol 135:262-8
    • (1988) J Cell Physiol , vol.135 , pp. 262-268
    • Hirobe, T.1    Flynn, E.2    Szabo, G.3    Vrabel, M.4    Garcia, R.I.5
  • 33
    • 0029348767 scopus 로고
    • Eumelanin and phaeomelanin contents of human epidermis and cultured melanocytes
    • Hunt G, Kyne S, Ito S, Wakamatsu K, Todd C, Thody A (1995) Eumelanin and phaeomelanin contents of human epidermis and cultured melanocytes. Pigment Cell Res 8:202-8
    • (1995) Pigment Cell Res , vol.8 , pp. 202-208
    • Hunt, G.1    Kyne, S.2    Ito, S.3    Wakamatsu, K.4    Todd, C.5    Thody, A.6
  • 35
    • 0025362506 scopus 로고
    • The relationship between tyrosinase activity and skin color in human foreskins
    • Iwata M, Corn T, Iwata S, Everett MA, Fuller BB (1990) The relationship between tyrosinase activity and skin color in human foreskins. J Invest Dermatol 95:9-15
    • (1990) J Invest Dermatol , vol.95 , pp. 9-15
    • Iwata, M.1    Corn, T.2    Iwata, S.3    Everett, M.A.4    Fuller, B.B.5
  • 37
    • 29144485743 scopus 로고    scopus 로고
    • SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
    • Lamason RL, Mohideen MA, Mest JR, Wong AC, Norton HL, Aros MC et al. (2005) SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science 310:1782-6
    • (2005) Science , vol.310 , pp. 1782-1786
    • Lamason, R.L.1    Mohideen, M.A.2    Mest, J.R.3    Wong, A.C.4    Norton, H.L.5    Aros, M.C.6
  • 39
    • 0038413866 scopus 로고    scopus 로고
    • Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: Pigmentation marker, ultrastructural and UV-survival studies
    • Leonard JH, Marks LH, Chen W, Cook AL, Boyle GM, Smit DJ et al. (2003) Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: pigmentation marker, ultrastructural and UV-survival studies. Pigment Cell Res 16:198-207
    • (2003) Pigment Cell Res , vol.16 , pp. 198-207
    • Leonard, J.H.1    Marks, L.H.2    Chen, W.3    Cook, A.L.4    Boyle, G.M.5    Smit, D.J.6
  • 40
    • 0038713136 scopus 로고    scopus 로고
    • A mutation in the MATP gene causes the cream coat colour in the horse
    • Mariat D, Taourit S, Guerin G (2003) A mutation in the MATP gene causes the cream coat colour in the horse. Genet Sel Evol 35:119-33
    • (2003) Genet Sel Evol , vol.35 , pp. 119-133
    • Mariat, D.1    Taourit, S.2    Guerin, G.3
  • 41
    • 33749033325 scopus 로고    scopus 로고
    • The genetic architecture of normal variation in human pigmentation: An evolutionary perspective and model
    • McEvoy B, Beleza S, Shriver MD (2006) The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model. Hum Mol Genet 15:R176-81
    • (2006) Hum Mol Genet , vol.15
    • McEvoy, B.1    Beleza, S.2    Shriver, M.D.3
  • 42
    • 0026015177 scopus 로고
    • Pigment content of cultured human melanocytes does not correlate with tyrosinase message level
    • Naeyaert JM, Eller M, Gordon PR, Park HY, Gilchrest BA (1991) Pigment content of cultured human melanocytes does not correlate with tyrosinase message level. Br J Dermatol 125:297-303
    • (1991) Br J Dermatol , vol.125 , pp. 297-303
    • Naeyaert, J.M.1    Eller, M.2    Gordon, P.R.3    Park, H.Y.4    Gilchrest, B.A.5
  • 43
    • 0036215886 scopus 로고    scopus 로고
    • Distinctive distribution of AIM1 polymorphism among major human populations with different skin color
    • Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A, Ishida T (2002) Distinctive distribution of AIM1 polymorphism among major human populations with different skin color. J Hum Genet 47:92-4
    • (2002) J Hum Genet , vol.47 , pp. 92-94
    • Nakayama, K.1    Fukamachi, S.2    Kimura, H.3    Koda, Y.4    Soemantri, A.5    Ishida, T.6
  • 44
    • 0034753365 scopus 로고    scopus 로고
    • Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
    • Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA et al. (2001) Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 69:981-8
    • (2001) Am J Hum Genet , vol.69 , pp. 981-988
    • Newton, J.M.1    Cohen-Barak, O.2    Hagiwara, N.3    Gardner, J.M.4    Davisson, M.T.5    King, R.A.6
  • 45
    • 34547919591 scopus 로고    scopus 로고
    • Post-transcriptional regulation of melanin biosynthetic enzymes by cAMP and resveratrol in human melanocytes
    • Newton RA, Cook AL, Roberts DW, Leonard JH, Sturm RA (2007a) Post-transcriptional regulation of melanin biosynthetic enzymes by cAMP and resveratrol in human melanocytes. J Invest Dermatol 127:2216-27
    • (2007) J Invest Dermatol , vol.127 , pp. 2216-2227
    • Newton, R.A.1    Cook, A.L.2    Roberts, D.W.3    Leonard, J.H.4    Sturm, R.A.5
  • 46
    • 36148947881 scopus 로고    scopus 로고
    • Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways
    • Newton RA, Roberts DW, Leonard JH, Sturm RA (2007b) Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways. Peptides 28:2387-96
    • (2007) Peptides , vol.28 , pp. 2387-2396
    • Newton, R.A.1    Roberts, D.W.2    Leonard, J.H.3    Sturm, R.A.4
  • 47
    • 33847664554 scopus 로고    scopus 로고
    • Genetic evidence for the convergent evolution of light skin in Europeans and East Asians
    • Norton HL, Kittles RA, Parra E, McKeigue P, Mao X, Cheng K et al. (2007) Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. Mol Biol Evol 24:710-22
    • (2007) Mol Biol Evol , vol.24 , pp. 710-722
    • Norton, H.L.1    Kittles, R.A.2    Parra, E.3    McKeigue, P.4    Mao, X.5    Cheng, K.6
  • 48
    • 0033910271 scopus 로고    scopus 로고
    • Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype?
    • Palmer JS, Duffy DL, Box NF, Aitken JF, O'Gorman LE, Green AC et al. (2000) Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet 66:176-86
    • (2000) Am J Hum Genet , vol.66 , pp. 176-186
    • Palmer, J.S.1    Duffy, D.L.2    Box, N.F.3    Aitken, J.F.4    O'Gorman, L.E.5    Green, A.C.6
  • 50
    • 0034703872 scopus 로고    scopus 로고
    • The Menkes copper transporter is required for the activation of tyrosinase
    • Petris MJ, Strausak D, Mercer JF (2000) The Menkes copper transporter is required for the activation of tyrosinase. Hum Mol Genet 9:2845-51
    • (2000) Hum Mol Genet , vol.9 , pp. 2845-2851
    • Petris, M.J.1    Strausak, D.2    Mercer, J.F.3
  • 51
    • 33745025243 scopus 로고    scopus 로고
    • Oral zinc sulphate causes murine hair hypopigmentation and is a potent inhibitor of eumelanogenesis in vivo
    • Plonka PM, Handjiski B, Michalczyk D, Popik M, Paus R (2006) Oral zinc sulphate causes murine hair hypopigmentation and is a potent inhibitor of eumelanogenesis in vivo. Br J Dermatol 155:39-49
    • (2006) Br J Dermatol , vol.155 , pp. 39-49
    • Plonka, P.M.1    Handjiski, B.2    Michalczyk, D.3    Popik, M.4    Paus, R.5
  • 53
    • 29444454335 scopus 로고    scopus 로고
    • Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism
    • Protas ME, Hersey C, Kochanek D, Zhou Y, Wilkens H, Jeffery WR et al. (2006) Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism. Nat Genet 38:107-11
    • (2006) Nat Genet , vol.38 , pp. 107-111
    • Protas, M.E.1    Hersey, C.2    Kochanek, D.3    Zhou, Y.4    Wilkens, H.5    Jeffery, W.R.6
  • 54
    • 0019842813 scopus 로고
    • All classes of intermediate filaments share a common antigenic determinant defined by a monoclonal antibody
    • Pruss RM, Mirsky R, Raff MC, Thorpe R, Dowding AJ, Anderton BH (1981) All classes of intermediate filaments share a common antigenic determinant defined by a monoclonal antibody. Cell 27:419-28
    • (1981) Cell , vol.27 , pp. 419-428
    • Pruss, R.M.1    Mirsky, R.2    Raff, M.C.3    Thorpe, R.4    Dowding, A.J.5    Anderton, B.H.6
  • 55
    • 0033778117 scopus 로고    scopus 로고
    • Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes
    • Puri N, Gardner JM, Brilliant MH (2000) Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol 115:607-13
    • (2000) J Invest Dermatol , vol.115 , pp. 607-613
    • Puri, N.1    Gardner, J.M.2    Brilliant, M.H.3
  • 56
    • 0027509280 scopus 로고
    • A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
    • Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA et al. (1993) A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-6
    • (1993) Nature , vol.361 , pp. 72-76
    • Rinchik, E.M.1    Bultman, S.J.2    Horsthemke, B.3    Lee, S.T.4    Strunk, K.M.5    Spritz, R.A.6
  • 57
    • 40949154726 scopus 로고    scopus 로고
    • Melanocytes expressing MC1R polymorphisms associated with red hair color have altered MSH-ligand activated pigmentary responses in coculture with keratinocytes
    • Roberts DW, Newton RA, Leonard JH, Sturm RA (2008) Melanocytes expressing MC1R polymorphisms associated with red hair color have altered MSH-ligand activated pigmentary responses in coculture with keratinocytes. J Cell Physiol 215:344-55
    • (2008) J Cell Physiol , vol.215 , pp. 344-355
    • Roberts, D.W.1    Newton, R.A.2    Leonard, J.H.3    Sturm, R.A.4
  • 58
    • 1242317673 scopus 로고    scopus 로고
    • + exchanger family: Vision and beyond
    • + exchanger family: vision and beyond. Pflugers Arch 447:683-8
    • (2004) Pflugers Arch , vol.447 , pp. 683-688
    • Schnetkamp, P.P.1
  • 59
    • 0033762098 scopus 로고    scopus 로고
    • Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors
    • Smit DJ, Smith AG, Parsons PG, Muscat GE, Sturm RA (2000) Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors. Eur J Biochem 267:6413-22
    • (2000) Eur J Biochem , vol.267 , pp. 6413-6422
    • Smit, D.J.1    Smith, A.G.2    Parsons, P.G.3    Muscat, G.E.4    Sturm, R.A.5
  • 61
    • 3242685938 scopus 로고    scopus 로고
    • The relationship between Na(+)/H(+) exchanger expression and tyrosinase activity in human melanocytes
    • Smith DR, Spaulding DT, Glenn HM, Fuller BB (2004) The relationship between Na(+)/H(+) exchanger expression and tyrosinase activity in human melanocytes. Exp Cell Res 298:521-34
    • (2004) Exp Cell Res , vol.298 , pp. 521-534
    • Smith, D.R.1    Spaulding, D.T.2    Glenn, H.M.3    Fuller, B.B.4
  • 62
    • 0036911335 scopus 로고    scopus 로고
    • Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism
    • Staleva L, Manga P, Orlow SJ (2002) Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism. Mol Biol Cell 13:4206-20
    • (2002) Mol Biol Cell , vol.13 , pp. 4206-4220
    • Staleva, L.1    Manga, P.2    Orlow, S.J.3
  • 64
    • 33747184831 scopus 로고    scopus 로고
    • A golden age of human pigmentation genetics
    • Sturm RA (2006) A golden age of human pigmentation genetics. Trends Genet 22:464-8
    • (2006) Trends Genet , vol.22 , pp. 464-468
    • Sturm, R.A.1
  • 65
    • 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 colour
    • Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK et al. (2008) A single SNP in an evolutionary conserved region within Intron 86 of the HERC2 gene determines human blue-brown eye colour. Am J Hum Genet 82:424-31
    • (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
  • 66
    • 3242733252 scopus 로고    scopus 로고
    • Eye colour: Portals into pigmentation genes and ancestry
    • Sturm RA, Frudakis TN (2004) Eye colour: portals into pigmentation genes and ancestry. Trends Genet 20:327-32
    • (2004) Trends Genet , vol.20 , pp. 327-332
    • Sturm, R.A.1    Frudakis, T.N.2
  • 69
    • 0036151098 scopus 로고    scopus 로고
    • Increase of pro-opiomelanocortin mRNA prior to tyrosinase, tyrosinase-related protein 1, dopachrome tautomerase, Pmel-17/gp100, and P-protein mRNA in human skin after ultraviolet B irradiation
    • Suzuki I, Kato T, Motokawa T, Tomita Y, Nakamura E, Katagiri T (2002) Increase of pro-opiomelanocortin mRNA prior to tyrosinase, tyrosinase-related protein 1, dopachrome tautomerase, Pmel-17/gp100, and P-protein mRNA in human skin after ultraviolet B irradiation. J Invest Dermatol 118:73-8
    • (2002) J Invest Dermatol , vol.118 , pp. 73-78
    • Suzuki, I.1    Kato, T.2    Motokawa, T.3    Tomita, Y.4    Nakamura, E.5    Katagiri, T.6
  • 70
    • 0038380474 scopus 로고    scopus 로고
    • UV-induced DNA damage and melanin content in human skin differing in racial/ethnic origin
    • Tadokoro T, Kobayashi N, Zmudzka BZ, Ito S, Wakamatsu K, Yamaguchi Y et al. (2003) UV-induced DNA damage and melanin content in human skin differing in racial/ethnic origin. FASEB J 17:1177-9
    • (2003) FASEB J , vol.17 , pp. 1177-1179
    • Tadokoro, T.1    Kobayashi, N.2    Zmudzka, B.Z.3    Ito, S.4    Wakamatsu, K.5    Yamaguchi, Y.6
  • 71
    • 20544448377 scopus 로고    scopus 로고
    • Mechanisms of skin tanning in different racial/ethnic groups in response to ultraviolet radiation
    • Tadokoro T, Yamaguchi Y, Batzer J, Coelho SG, Zmudzka BZ, Miller SA et al. (2005) Mechanisms of skin tanning in different racial/ethnic groups in response to ultraviolet radiation. J Invest Dermatol 124:1326-32
    • (2005) J Invest Dermatol , vol.124 , pp. 1326-1332
    • Tadokoro, T.1    Yamaguchi, Y.2    Batzer, J.3    Coelho, S.G.4    Zmudzka, B.Z.5    Miller, S.A.6
  • 72
    • 0027281067 scopus 로고
    • Differential regulation of tyrosinase activity in skin of white and black individuals in vivo by topical retinoic acid
    • Talwar HS, Griffiths CE, Fisher GJ, Russman A, Krach K, Benrazavi S et al. (1993) Differential regulation of tyrosinase activity in skin of white and black individuals in vivo by topical retinoic acid. J Invest Dermatol 100:800-5
    • (1993) J Invest Dermatol , vol.100 , pp. 800-805
    • Talwar, H.S.1    Griffiths, C.E.2    Fisher, G.J.3    Russman, A.4    Krach, K.5    Benrazavi, S.6
  • 73
    • 0029149699 scopus 로고
    • The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells
    • Thomson JAF, Murphy K, Baker E, Sutherland GR, Parsons PG, Sturm RA (1995) The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells. Oncogene 11:691-700
    • (1995) Oncogene , vol.11 , pp. 691-700
    • Thomson, J.A.F.1    Murphy, K.2    Baker, E.3    Sutherland, G.R.4    Parsons, P.G.5    Sturm, R.A.6
  • 74
    • 0036016306 scopus 로고    scopus 로고
    • The etiology of oculocutaneous albinism (OCA) type II: The pink protein modulates the processing and transport of tyrosinase
    • Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD et al. (2002) The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res 15:217-24
    • (2002) Pigment Cell Res , vol.15 , pp. 217-224
    • Toyofuku, K.1    Valencia, J.C.2    Kushimoto, T.3    Costin, G.E.4    Virador, V.M.5    Vieira, W.D.6
  • 75
    • 41049097517 scopus 로고    scopus 로고
    • Characterisation of melanin in human iridal and choridal melanocytes from eyes with various colored irides
    • Wakamatsu K, Hu D-H, McCormick A, Ito S (2008) Characterisation of melanin in human iridal and choridal melanocytes from eyes with various colored irides. Pigment Cell Melanoma Res 21:97-105
    • (2008) Pigment Cell Melanoma Res , vol.21 , pp. 97-105
    • Wakamatsu, K.1    Hu, D.-H.2    McCormick, A.3    Ito, S.4
  • 76
    • 33644847858 scopus 로고    scopus 로고
    • Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melanin
    • Wakamatsu K, Kavanagh R, Kadekaro AL, Terzieva S, Sturm RA, Leachman S et al. (2006) Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melanin. Pigment Cell Res 19:154-62
    • (2006) Pigment Cell Res , vol.19 , pp. 154-162
    • Wakamatsu, K.1    Kavanagh, R.2    Kadekaro, A.L.3    Terzieva, S.4    Sturm, R.A.5    Leachman, S.6
  • 77
    • 10744223486 scopus 로고    scopus 로고
    • Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity
    • Watabe H, Valencia JC, Yasumoto K, Kushimoto T, Ando H, Muller J et al. (2004) Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity. J Biol Chem 279:7971-81
    • (2004) J Biol Chem , vol.279 , pp. 7971-7981
    • Watabe, H.1    Valencia, J.C.2    Yasumoto, K.3    Kushimoto, T.4    Ando, H.5    Muller, J.6


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