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Volumn 22, Issue 3, 2012, Pages 446-455

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter

Author keywords

[No Author keywords available]

Indexed keywords

LYMPHOID ENHANCER FACTOR 1; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; PROTEIN; PROTEIN HERC2; PROTEIN OCA2; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HLTF; UNCLASSIFIED DRUG;

EID: 84857192750     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.128652.111     Document Type: Article
Times cited : (211)

References (39)
  • 2
    • 60549085065 scopus 로고    scopus 로고
    • Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype
    • Branicki W, Brudnik U, Wojas-Pelc A. 2009. Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Ann Hum Genet 73: 160-170.
    • (2009) Ann Hum Genet , vol.73 , pp. 160-170
    • Branicki, W.1    Brudnik, U.2    Wojas-Pelc, A.3
  • 4
    • 0035088810 scopus 로고    scopus 로고
    • The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH
    • DOI 10.1034/j.1600-0749.2001.140203.x
    • Brilliant MH. 2001. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res 14: 86-93. (Pubitemid 32258345)
    • (2001) Pigment Cell Research , vol.14 , Issue.2 , pp. 86-93
    • Brilliant, M.H.1
  • 8
    • 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
    • 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.
    • (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
    • 34250369627 scopus 로고    scopus 로고
    • FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatin
    • DOI 10.1101/gr.5533506
    • Giresi PG, Kim J, McDaniell RM, Iyer VR, Lieb JD. 2007. FAIRE (formaldehyde-assisted isolation of regulatory elements) isolates active regulatory elements from human chromatin. Genome Res 17: 877-885. (Pubitemid 46919722)
    • (2007) Genome Research , vol.17 , Issue.6 , pp. 877-885
    • Giresi, P.G.1    Kim, J.2    McDaniell, R.M.3    Iyer, V.R.4    Lieb, J.D.5
  • 13
    • 44849091227 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel alleles associatedwith hair color and skin pigmentation
    • doi: 10.1371/journal.pgen.1000074
    • Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, et al. 2008. A genome-wide association study identifies novel alleles associatedwith hair color and skin pigmentation. PLoS Genet 4: e1000074. doi: 10.1371/journal.pgen.1000074.
    • (2008) PLoS Genet , vol.4
    • Han, J.1    Kraft, P.2    Nan, H.3    Guo, Q.4    Chen, C.5    Qureshi, A.6    Hankinson, S.E.7    Hu, F.B.8    Duffy, D.L.9    Zhao, Z.Z.10
  • 16
    • 41649111599 scopus 로고    scopus 로고
    • Progesterone-dependent deoxyribonucleic acid looping between RUSH/SMARCA3 and Egr-1 mediates repression by c-Rel
    • DOI 10.1210/me.2007-0432
    • Hewetson A, Chilton BS. 2008. Progesterone-dependent deoxyribonucleic acid looping between RUSH/SMARCA3 and Egr-1 mediates repression by c-Rel. Mol Endocrinol 22: 813-822. (Pubitemid 351482819)
    • (2008) Molecular Endocrinology , vol.22 , Issue.4 , pp. 813-822
    • Hewetson, A.1    Chilton, B.S.2
  • 20
    • 33747882661 scopus 로고    scopus 로고
    • MITF: master regulator of melanocyte development and melanoma oncogene
    • DOI 10.1016/j.molmed.2006.07.008, PII S1471491406001699
    • Levy C, Khaled M, Fisher DE. 2006. MITF: Master regulator of melanocyte development and melanoma oncogene. Trends Mol Med 12: 406-414. (Pubitemid 44291572)
    • (2006) Trends in Molecular Medicine , vol.12 , Issue.9 , pp. 406-414
    • Levy, C.1    Khaled, M.2    Fisher, D.E.3
  • 24
    • 70350131505 scopus 로고    scopus 로고
    • Biochemical characterisation of the SWI/ SNF family member HLTF
    • MacKay C, Toth R, Rouse J. 2009. Biochemical characterisation of the SWI/ SNF family member HLTF. Biochem Biophys Res Commun 390: 187-191.
    • (2009) Biochem Biophys Res Commun , vol.390 , pp. 187-191
    • MacKay, C.1    Toth, R.2    Rouse, J.3
  • 25
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • Manolio TA. 2010. Genomewide association studies and assessment of the risk of disease. N Engl J Med 363: 166-176.
    • (2010) N Engl J Med , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 26
    • 70349542588 scopus 로고    scopus 로고
    • Close encounters of the 3C kind: Long-range chromatin interactions and transcriptional regulation
    • Palstra R. 2009. Close encounters of the 3C kind: Long-range chromatin interactions and transcriptional regulation. Brief Funct Genomics Proteomics 8: 297-309.
    • (2009) Brief Funct Genomics Proteomics , vol.8 , pp. 297-309
    • Palstra, R.1
  • 27
    • 0141730403 scopus 로고    scopus 로고
    • The b-globin nuclear compartment in development and erythroid differentiation
    • DOI 10.1038/ng1244
    • Palstra RJ, Tolhuis B, Splinter E, Nijmeijer R, Grosveld F, de Laat W. 2003. The b-globin nuclear compartment in development and erythroid differentiation. Nat Genet 35: 190-194. (Pubitemid 37187640)
    • (2003) Nature Genetics , vol.35 , Issue.2 , pp. 190-194
    • Palstra, R.-J.1    Tolhuis, B.2    Splinter, E.3    Nijmeijer, R.4    Grosveld, F.5    De Laat, W.6
  • 29
    • 0034118493 scopus 로고    scopus 로고
    • Inference of population structure using multilocus genotype data
    • Pritchard JK, Stephens M, Donnelly P. 2000. Inference of population structure using multilocus genotype data. Genetics 155: 945-959. (Pubitemid 30397141)
    • (2000) Genetics , vol.155 , Issue.2 , pp. 945-959
    • Pritchard, J.K.1    Stephens, M.2    Donnelly, P.3
  • 34
    • 63149157274 scopus 로고    scopus 로고
    • Molecular genetics of human pigmentation diversity
    • SturmRA. 2009. Molecular genetics of human pigmentation diversity. Hum Mol Genet 18: R9-R17.
    • (2009) Hum Mol Genet , vol.18
    • Sturm, R.A.1
  • 35
    • 69449104975 scopus 로고    scopus 로고
    • Genetics of human iris colour and patterns
    • Sturm RA, Larsson M. 2009. Genetics of human iris colour and patterns. Pigment Cell Melanoma Res 22: 544-562.
    • (2009) Pigment Cell Melanoma Res , vol.22 , pp. 544-562
    • Sturm, R.A.1    Larsson, M.2
  • 38
    • 77749323471 scopus 로고    scopus 로고
    • Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated singlenucleotide polymorphism in colorectal cancer cells
    • Wright JB, Brown SJ, Cole MD. 2010. Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated singlenucleotide polymorphism in colorectal cancer cells. Mol Cell Biol 30: 1411-1420.
    • (2010) Mol Cell Biol , vol.30 , pp. 1411-1420
    • Wright, J.B.1    Brown, S.J.2    Cole, M.D.3
  • 39
    • 77954133834 scopus 로고    scopus 로고
    • Lymphoid enhancer binding factor 1 regulates transcription through gene looping
    • Yun K, So JS, Jash A, Im SH. 2009. Lymphoid enhancer binding factor 1 regulates transcription through gene looping. J Immunol 183: 5129-5137.
    • (2009) J Immunol , vol.183 , pp. 5129-5137
    • Yun, K.1    So, J.S.2    Jash, A.3    Im, S.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.