| 1 | LRMDA, OCA2, SLC24A5, TYRP1
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| Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants
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| Rayner JE, Duffy DL, Smit DJ, Jagirdar K, Lee KJ, De'Ambrosis B, Smithers BM, McMeniman EK, McInerney-Leo AM, Schaider H, Stark MS, Soyer HP, Sturm RA.
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| PLoS One. Sep 23;15(9):e0238529. doi: 10.1371/journal.pone.0238529. 2020
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| 2 | LRMDA, OCA1, OCA2, OCA3, OCA4, OCA6, OCA7, SLC24A5, SLC45A2, TYR, TYRP1
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| Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis
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| Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J, Zhang J, Chen J
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| Pigment Cell Melanoma Res. Sep;32(5):672-686. doi: 10.1111/pcmr.12790. Epub 2019 May 29 2019
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| 3 | OCA2, TBX2
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| The transcription factor TBX2 regulates melanogenesis in melanocytes by repressing Oca2.
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| Chen Y, Pan L, Su Z, Wang J, Li H, Ma X, Liu Y, Lu F, Qu J, Hou L.
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| Mol Cell Biochem 415(1-2):103-9. doi: 10.1007/s11010-016-2680-7. Epub 2016 Mar 12.
2016
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| 4 | OCA1, OCA1B, OCA2, TYR
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| Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
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| Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X.
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| PLoS One 10(4):e0125651. doi: 10.1371/journal.pone.0125651. eCollection 2015.
2015
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| 5 | OCA2
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| Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2.
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| Park S, Morya VK, Nguyen DH, Singh BK, Lee HB, Kim EK.
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| Mol Cell Biochem 403(1-2):61-71. doi: 10.1007/s11010-015-2337-y. Epub 2015 Feb 6.
2015
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| 6 | OCA2
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| Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes.
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| Cheng T, Orlow SJ, Manga P.
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| Pigment Cell Melanoma Res 26(6):826-34. doi: 10.1111/pcmr.12158. Epub 2013 Sep 9.
2013
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| 7 | OCA2
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| Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model.
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| Martinez-Cadenas C, Peña-Chilet M, Ibarrola-Villava M, Ribas G.
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| Forensic Sci Int Genet 7(4):453-60. doi: 10.1016/j.fsigen.2013.03.007. Epub 2013 Apr 16.
2013
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| 8 | OCA2
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| Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.
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| Hawkes JE, Cassidy PB, Manga P, Boissy RE, Goldgar D, Cannon-Albright L, Florell SR, Leachman SA.
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| J Dermatol Sci 69(1):30-7. doi: 10.1016/j.jdermsci.2012.09.016. Epub 2012 Oct 13.
2013
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| 9 | HERC2, OCA2
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| A global view of the OCA2-HERC2 region and pigmentation.
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| Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK.
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| Hum Genet 131(5):683-96. doi: 10.1007/s00439-011-1110-x. Epub 2011 Nov 8.
2012
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| 10 | AP1B1, AP3B1, BLOC1S1, OCA2
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| Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes.
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| Sitaram A, Dennis MK, Chaudhuri R, De Jesus-Rojas W, Tenza D, Setty SR, Wood CS, Sviderskaya EV, Bennett DC, Raposo G, Bonifacino JS, Marks MS.
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| Mol Biol Cell 23(16):3178-92. Epub 2012 Jun 20.
2012
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| 11 | BLOC1S6, OCA2
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| Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.
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| Hoyle DJ, Rodriguez-Fernandez IA, Dell'angelica EC.
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| Pigment Cell Melanoma Res 24(2):275-81. doi: 10.1111/j.1755-148X.2010.00815.x. Epub 2010 Dec 17. 2011
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| 12 | HERC2, OCA2, SLC24A4
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| Gene-gene interactions contribute to eye colour variation in humans.
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| Pośpiech E, Draus-Barini J, Kupiec T, Wojas-Pelc A, Branicki W.
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| J Hum Genet 56(6):447-55. doi: 10.1038/jhg.2011.38. Epub 2011 Apr 7.
2011
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| 13 | OCA2
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| Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
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| Johanson HC, Chen W, Wicking C, Sturm RA.
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| J Hum Genet 55(2):103-11. Epub 2009 Dec 18.PMID: 20019752 2010
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| 14 | OCA2
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| Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
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| Edwards M, Bigham A, Tan J, Li S, Gozdzik A, Ross K, Jin L, Parra EJ.
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| PLoS Genet 6(3):e1000867. 2010
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| 15 | HERC2, OCA2
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| Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
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| Iida R, Ueki M, Takeshita H, Fujihara J, Nakajima T, Kominato Y, Nagao M, Yasuda T.
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| Cell Biochem Funct 27(5):323-7.PMID: 19472299 2009
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| 16 | HERC2, MC1R, OCA2
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| Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
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| Branicki W, Brudnik U, Wojas-Pelc A.
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| Ann Hum Genet 73(2):160-70. Epub 2009 Feb 4.PMID: 19208107 2009
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| 17 | OCA2
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| Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function.
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| Sitaram A, Piccirillo R, Palmisano I, Harper DC, Dell'Angelica EC, Schiaffino MV, Marks MS.
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| Mol Biol Cell 20(5):1464-77. Epub 2008 Dec 30.PMID: 19116314 2009
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| 18 | HERC2, OCA2, HECD
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| Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
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| Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ijcken WF, den Dunnen JT, Heath S, Zelenika D, Despriet DD, Klaver CC, Vingerling JR, de Jong PT, Hofman A, Aulchenko YS, Uitterlinden AG, Oostra BA, van Duijn CM.
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| Am J Hum Genet 82(2):411-23. Epub 2008 Jan 25. 2008
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| 19 | HECD, HERC2, OCA2, RABGGTA
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| 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.
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| Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L.
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| Hum Genet 123(2):177-87. Epub 2008 Jan 3. 2008
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| 20 | HECD, OCA2
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| A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
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| Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA.
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| Am J Hum Genet 80(2):241-52. Epub 2006 Dec 20. 2007
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| 21 | SLC24A4, KITLG, TYR, MC1R, OCA2, HERC2, HECD
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| Genetic determinants of hair, eye and skin pigmentation in Europeans.
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| Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, P‡lsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K.
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| Nat Genet 39(12):1443-52. Epub 2007 Oct 21. 2007
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| 22 | OCA2
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| Albinism and developmental delay: the need to test for 15q11-q13 deletion.
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| Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE.
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| Pediatr Neurol 37(4):299-302.PMID: 17903679 2007
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| 23 | OCA2, MC1R
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| Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
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| Jannot AS, Meziani R, Bertrand G, Gerard B, Descamps V, Archimbaud A, Picard C, Ollivaud L, Basset-Seguin N, Kerob D, Lanternier G, Lebbe C, Saiag P, Crickx B, Clerget-Darpoux F, Grandchamp B, Soufir N; Melan-Cohort.
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| Eur J Hum Genet [Epub ahead of print] 2005
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| 24 | MC1R, OCA2
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| Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
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| Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA.
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| Hum Mol Genet 13(4):447-61. Epub 2004 Jan 06. 2004
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| 25 | MC1R, OCA2
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| MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).
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| King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS.
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| Am J Hum Genet 73(3):638-45. Epub 2003 Jul 22. 2003
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| 26 | OCA2
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| In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.
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| Manga P, Kromberg J, Turner A, Jenkins T, Ramsay M.
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| Am J Hum Genet 68(3):782-7. 2001
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| 27 | OCA2
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| Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
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| Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M.
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| Hum Mutat 15(2):166-72 2000
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| 28 | LYST, HPS1, OCA1, OCA2, OCA3, OA1, CHS1
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| Molecular basis of albinism : mutations and polymorphisms of pigmentation genes associated with albinism.
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| Oetting WS, et al.
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| Hum Mutat 13 : 99-115. 1999
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| 29 | OCA2
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| Oculocutaneous albinism (OCA2) in sub-Saharan Africa : distribution of the common 2.7-kb P gene deletion mutation.
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| Stevens G, et al.
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| Hum Genet 99 : 523-527. 1997
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| 30 | OCA2
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| Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
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| Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG.
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| Hum Mutat 10(2):175-7. 1997
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| 31 | OCA2
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| Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.
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| Puri N, Durbam-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH.
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| Hum Genet 100(5-6):651-6. 1997
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| 32 | OCA2
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| Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.
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| Durham-Pierre D, et al.
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| Hum Mutat 7 : 370-373. 1996
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| 33 | OCA2
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| Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito : is there a role for the P gene ?
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| Pellegrino JE, et al.
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| Hum Genet 96 : 485-489. 1995
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| 34 | OCA2
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| An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in Southern African Negroids.
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| Stevens G, et al.
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| Am J Hum Genet 56 : 586-591. 1995
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| 35 | OCA2
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| Organization and sequence of the human P gene and identification of a new family of transport proteins.
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| Lee ST, et al.
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| Genomics 26 : 354-363. 1995
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| 36 | OCA2
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| Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
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| Spritz RA, et al.
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| Am J Hum Genet 56 : 1320-1323. 1995
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| 37 | OCA2
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| Mutations of the p gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
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| Lee ST, et al.
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| N Engl J Med 330 : 529-534. 1994
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| 38 | OCA2
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| African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.
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| Durham-Pierre D, et al.
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| Nat Genet 7 : 176-179. 1994
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| 39 | OCA2
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| The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in Southern African Negroids.
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| Kedda MA, et al.
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| Am J Hum Genet 54 : 1078-1084. 1994
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| 40 | OCA2
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| Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in Southern African Negroids. (abstr)
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| Manga P, et al.
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| Am J Hum Genet 55 : A194. 1994
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| 41 | OCA2
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| Diverse mutations of the P gene among African-Amerians with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
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| Lee ST, et al.
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| Hum Mol Genet 3 : 2047-2051. 1994
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| 42 | OCA2
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| Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.
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| Rosemblat S, et al.
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| Proc Natl Acad Sci U S A 91 : 12071-12075. 1994
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| 43 | OCA2
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| A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneus albinism.
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| Rinchik EM, et al.
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| Nature 361 : 72-75. 1993
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| 44 | OCA2
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| Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.
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| Colman MA, et al.
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| Hum Genet 90 : 556-560. 1993
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| 45 | OCA2
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| The mouse pink-eyed dilution gene : association with human Prader-Willi and Angelman syndromes.
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| Gardner JM, et al.
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| Science 257 : 1121-1124. 1992
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| 46 | OCA2
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| The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
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| Ramsay M, et al.
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| Am J Hum Genet 51 : 879-884. 1992
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| 47 | OCA2
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| Tyrosinase positive albinism with familial 46,XY,t(2;4)(q31.2;q31.22) balanced translocation.
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| Walpole IR, et al.
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| J Med Genet 28 : 482-484. 1991
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| 48 | OCA2
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| The tyrosinase-positive oculocutaneous albinism locus is not linked tothe beta-globin locus in man.
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| Heim RA, Dunn DS, Candy SE, Zwane E, Kromberg JG, Jenkins T.
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| Hum Genet 79 : 89. 1988
|