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Volumn 155, Issue 5, 2013, Pages 1022-

XA polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway

(33)  Praetorius, Christian a   Grill, Christine a   Stacey, Simon N b   Metcalf, Alexander M c   Gorkin, David U d   Robinson, Kathleen C e   Van Otterloo, Eric f   Kim, Reuben S Q c   Bergsteinsdottir, Kristin a   Ogmundsdottir, Margret H a   Magnusdottir, Erna a   Mishra, Pravin J g   Davis, Sean R g   Guo, Theresa g   Zaidi, M Raza g   Helgason, Agnar S b   Sigurdsson, Martin I a   Meltzer, Paul S g   Merlino, Glenn g   Petit, Valerie h   more..


Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON REGULATORY FACTOR 4; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MONOPHENOL MONOOXYGENASE; TFAP2A; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

EID: 84889578835     PISSN: 00928674     EISSN: 10974172     Source Type: Journal    
DOI: 10.1016/j.cell.2013.10.022     Document Type: Article
Times cited : (175)

References (66)
  • 1
    • 0034650695 scopus 로고    scopus 로고
    • Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice
    • S. Adachi, E. Morii, Dk. Kim, H. Ogihara, T. Jippo, A. Ito, Y.M. Lee, and Y. Kitamura Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice J. Immunol. 164 2000 855 860
    • (2000) J. Immunol. , vol.164 , pp. 855-860
    • Adachi, S.1    Morii, E.2    Kim, Dk.3    Ogihara, H.4    Jippo, T.5    Ito, A.6    Lee, Y.M.7    Kitamura, Y.8
  • 2
    • 0037144311 scopus 로고    scopus 로고
    • Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R)
    • H. Aoki, and O. Moro Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R) Life Sci. 71 2002 2171 2179
    • (2002) Life Sci. , vol.71 , pp. 2171-2179
    • Aoki, H.1    Moro, O.2
  • 5
    • 0029737712 scopus 로고    scopus 로고
    • Regulation of tyrosinase gene expression by cAMP in B16 melanoma cells involves two CATGTG motifs surrounding the TATA box: Implication of the microphthalmia gene product
    • C. Bertolotto, K. Bille, J.P. Ortonne, and R. Ballotti Regulation of tyrosinase gene expression by cAMP in B16 melanoma cells involves two CATGTG motifs surrounding the TATA box: implication of the microphthalmia gene product J. Cell Biol. 134 1996 747 755
    • (1996) J. Cell Biol. , vol.134 , pp. 747-755
    • Bertolotto, C.1    Bille, K.2    Ortonne, J.P.3    Ballotti, R.4
  • 8
    • 84860577795 scopus 로고    scopus 로고
    • In vivo role of alternative splicing and serine phosphorylation of the microphthalmia-associated transcription factor
    • J. Debbache, M.R. Zaidi, S. Davis, T. Guo, K. Bismuth, X. Wang, S. Skuntz, D. Maric, J. Pickel, and P. Meltzer In vivo role of alternative splicing and serine phosphorylation of the microphthalmia-associated transcription factor Genetics 191 2012 133 144
    • (2012) Genetics , vol.191 , pp. 133-144
    • Debbache, J.1    Zaidi, M.R.2    Davis, S.3    Guo, T.4    Bismuth, K.5    Wang, X.6    Skuntz, S.7    Maric, D.8    Pickel, J.9    Meltzer, P.10
  • 11
    • 74149093117 scopus 로고    scopus 로고
    • An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males
    • T.N. Do, E. Ucisik-Akkaya, C.F. Davis, B.A. Morrison, and M.T. Dorak An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males Biochim. Biophys. Acta 1802 2010 292 300
    • (2010) Biochim. Biophys. Acta , vol.1802 , pp. 292-300
    • Do, T.N.1    Ucisik-Akkaya, E.2    Davis, C.F.3    Morrison, B.A.4    Dorak, M.T.5
  • 16
    • 0031933646 scopus 로고    scopus 로고
    • Structure of IRF-1 with bound DNA reveals determinants of interferon regulation
    • C.R. Escalante, J. Yie, D. Thanos, and A.K. Aggarwal Structure of IRF-1 with bound DNA reveals determinants of interferon regulation Nature 391 1998 103 106
    • (1998) Nature , vol.391 , pp. 103-106
    • Escalante, C.R.1    Yie, J.2    Thanos, D.3    Aggarwal, A.K.4
  • 17
    • 0023882897 scopus 로고
    • The validity and practicality of sun-reactive skin types i through VI
    • T.B. Fitzpatrick The validity and practicality of sun-reactive skin types I through VI Arch. Dermatol. 124 1988 869 871
    • (1988) Arch. Dermatol. , vol.124 , pp. 869-871
    • Fitzpatrick, T.B.1
  • 21
    • 0027204149 scopus 로고
    • Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
    • C.A. Hodgkinson, K.J. Moore, A. Nakayama, E. Steingrímsson, N.G. Copeland, N.A. Jenkins, and H. Arnheiter Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein Cell 74 1993 395 404
    • (1993) Cell , vol.74 , pp. 395-404
    • Hodgkinson, C.A.1    Moore, K.J.2    Nakayama, A.3    Steingrímsson, E.4    Copeland, N.G.5    Jenkins, N.A.6    Arnheiter, H.7
  • 31
    • 34347244891 scopus 로고    scopus 로고
    • The IRF family, revisited
    • A. Paun, and P.M. Pitha The IRF family, revisited Biochimie 89 2007 744 753
    • (2007) Biochimie , vol.89 , pp. 744-753
    • Paun, A.1    Pitha, P.M.2
  • 36
    • 0035960920 scopus 로고    scopus 로고
    • The human melanocortin-1 receptor locus: Analysis of transcription unit, locus polymorphism and haplotype evolution
    • A.G. Smith, N.F. Box, L.H. Marks, W. Chen, D.J. Smit, J.R. Wyeth, G.A. Huttley, S. Easteal, and R.A. Sturm The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution Gene 281 2001 81 94
    • (2001) Gene , vol.281 , pp. 81-94
    • Smith, A.G.1    Box, N.F.2    Marks, L.H.3    Chen, W.4    Smit, D.J.5    Wyeth, J.R.6    Huttley, G.A.7    Easteal, S.8    Sturm, R.A.9
  • 38
    • 10944234560 scopus 로고    scopus 로고
    • Melanocytes and the microphthalmia transcription factor network
    • E. Steingrímsson, N.G. Copeland, and N.A. Jenkins Melanocytes and the microphthalmia transcription factor network Annu. Rev. Genet. 38 2004 365 411
    • (2004) Annu. Rev. Genet. , vol.38 , pp. 365-411
    • Steingrímsson, E.1    Copeland, N.G.2    Jenkins, N.A.3
  • 40
    • 63149157274 scopus 로고    scopus 로고
    • Molecular genetics of human pigmentation diversity
    • R.A. Sturm Molecular genetics of human pigmentation diversity Hum. Mol. Genet. 18 R1 2009 R9 R17
    • (2009) Hum. Mol. Genet. , vol.18 , Issue.R1
    • Sturm, R.A.1
  • 43
    • 0041888172 scopus 로고    scopus 로고
    • Expression of the B-cell proliferation marker MUM1 by melanocytic lesions and comparison with S100, gp100 (HMB45), and MelanA
    • U. Sundram, J.D. Harvell, R.V. Rouse, and Y. Natkunam Expression of the B-cell proliferation marker MUM1 by melanocytic lesions and comparison with S100, gp100 (HMB45), and MelanA Mod. Pathol. 16 2003 802 810
    • (2003) Mod. Pathol. , vol.16 , pp. 802-810
    • Sundram, U.1    Harvell, J.D.2    Rouse, R.V.3    Natkunam, Y.4
  • 48
    • 78049427561 scopus 로고    scopus 로고
    • Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon
    • E. Van Otterloo, W. Li, G. Bonde, K.M. Day, M.Y. Hsu, and R.A. Cornell Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon PLoS Genet. 6 2010 e1001122
    • (2010) PLoS Genet. , vol.6 , pp. 1001122
    • Van Otterloo, E.1    Li, W.2    Bonde, G.3    Day, K.M.4    Hsu, M.Y.5    Cornell, R.A.6
  • 49
    • 84857192750 scopus 로고    scopus 로고
    • HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter
    • M. Visser, M. Kayser, and R.J. Palstra HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter Genome Res. 22 2012 446 455
    • (2012) Genome Res. , vol.22 , pp. 446-455
    • Visser, M.1    Kayser, M.2    Palstra, R.J.3
  • 51
    • 0028051530 scopus 로고
    • Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene
    • K. Yasumoto, K. Yokoyama, K. Shibata, Y. Tomita, and S. Shibahara Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene Mol. Cell. Biol. 14 1994 8058 8070
    • (1994) Mol. Cell. Biol. , vol.14 , pp. 8058-8070
    • Yasumoto, K.1    Yokoyama, K.2    Shibata, K.3    Tomita, Y.4    Shibahara, S.5
  • 52
    • 0037013860 scopus 로고    scopus 로고
    • Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling
    • K. Yasumoto, K. Takeda, H. Saito, K. Watanabe, K. Takahashi, and S. Shibahara Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling EMBO J. 21 2002 2703 2714
    • (2002) EMBO J. , vol.21 , pp. 2703-2714
    • Yasumoto, K.1    Takeda, K.2    Saito, H.3    Watanabe, K.4    Takahashi, K.5    Shibahara, S.6
  • 54
    • 0029763203 scopus 로고    scopus 로고
    • Pip, a lymphoid-restricted IRF, contains a regulatory domain that is important for autoinhibition and ternary complex formation with the Ets factor PU.1
    • A.L. Brass, E. Kehrli, C.F. Eisenbeis, U. Storb, and H. Singh Pip, a lymphoid-restricted IRF, contains a regulatory domain that is important for autoinhibition and ternary complex formation with the Ets factor PU.1 Genes Dev. 10 1996 2335 2347
    • (1996) Genes Dev. , vol.10 , pp. 2335-2347
    • Brass, A.L.1    Kehrli, E.2    Eisenbeis, C.F.3    Storb, U.4    Singh, H.5
  • 55
    • 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
    • A.L. Cook, P.D. Donatien, A.G. Smith, M. Murphy, M.K. Jones, M. Herlyn, D.C. Bennett, J.H. Leonard, and R.A. Sturm 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 2003 1150 1159
    • (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    Bennett, D.C.7    Leonard, J.H.8    Sturm, R.A.9
  • 57
    • 75549084094 scopus 로고    scopus 로고
    • Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
    • D.L. Duffy, Z.Z. Zhao, R.A. Sturm, N.K. Hayward, N.G. Martin, and G.W. Montgomery Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma J. Invest. Dermatol. 130 2010 520 528
    • (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
  • 58
    • 34347244234 scopus 로고    scopus 로고
    • Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish
    • S. Fisher, E.A. Grice, R.M. Vinton, S.L. Bessling, A. Urasaki, K. Kawakami, and A.S. McCallion Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish Nat. Protoc. 1 2006 1297 1305
    • (2006) Nat. Protoc. , vol.1 , pp. 1297-1305
    • Fisher, S.1    Grice, E.A.2    Vinton, R.M.3    Bessling, S.L.4    Urasaki, A.5    Kawakami, K.6    McCallion, A.S.7
  • 60
    • 33745967216 scopus 로고    scopus 로고
    • AP-2gamma induces p21 expression, arrests cell cycle, and inhibits the tumor growth of human carcinoma cells
    • H. Li, P.C. Goswami, and F.E. Domann AP-2gamma induces p21 expression, arrests cell cycle, and inhibits the tumor growth of human carcinoma cells Neoplasia 8 2006 568 577
    • (2006) Neoplasia , vol.8 , pp. 568-577
    • Li, H.1    Goswami, P.C.2    Domann, F.E.3
  • 61
    • 0036581160 scopus 로고    scopus 로고
    • Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR
    • M.W. Pfaffl, G.W. Horgan, and L. Dempfle Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR Nucleic Acids Res. 30 2002 e36
    • (2002) Nucleic Acids Res. , vol.30 , pp. 36
    • Pfaffl, M.W.1    Horgan, G.W.2    Dempfle, L.3
  • 64
    • 0345306669 scopus 로고    scopus 로고
    • Loss of activator protein-2alpha results in overexpression of protease-activated receptor-1 and correlates with the malignant phenotype of human melanoma
    • C. Tellez, M. McCarty, M. Ruiz, and M. Bar-Eli Loss of activator protein-2alpha results in overexpression of protease-activated receptor-1 and correlates with the malignant phenotype of human melanoma J. Biol. Chem. 278 2003 46632 46642
    • (2003) J. Biol. Chem. , vol.278 , pp. 46632-46642
    • Tellez, C.1    McCarty, M.2    Ruiz, M.3    Bar-Eli, M.4
  • 65
    • 77951820899 scopus 로고    scopus 로고
    • Fast and SNP-tolerant detection of complex variants and splicing in short reads
    • T.D. Wu, and S. Nacu Fast and SNP-tolerant detection of complex variants and splicing in short reads Bioinformatics 26 2010 873 881
    • (2010) Bioinformatics , vol.26 , pp. 873-881
    • Wu, T.D.1    Nacu, S.2


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