[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), AND VARIANT ASP-257.
DOI=10.1038/361072a0; PubMed=8421497 [NCBI, ExPASy, EBI, Israel, Japan]
Rinchik E.M.,
Bultman S.J.,
Horsthemke B.,
Lee S.-T.,
Strunk K.M.,
Spritz R.A.,
Avidano K.A.,
Jong M.T.C.,
Nicholls R.D.;
"A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.";
Nature 361:72-76(1993).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 3), FUNCTION, SUBCELLULAR LOCATION, AND VARIANTS TRP-305; GLN-419; PHE-440; ARG-615 AND THR-722.
DOI=10.1016/0888-7543(95)80220-G; PubMed=7601462 [NCBI, ExPASy, EBI, Israel, Japan]
Lee S.-T.,
Nicholls R.D.,
Jong M.T.C.,
Fukai K.,
Spritz R.A.;
"Organization and sequence of the human P gene and identification of a new family of transport proteins.";
Genomics 26:354-363(1995).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] OF 288-419, AND DISEASE.
TISSUE=Skin;
PubMed=1509264 [NCBI, ExPASy, EBI, Israel, Japan]
Gardner J.M.,
Nakatsu Y.,
Gondo Y.,
Lee S.,
Lyon M.F.,
King R.A.,
Brilliant M.H.;
"The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.";
Science 257:1121-1124(1992).
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[5]
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FUNCTION.
PubMed=11310796 [NCBI, ExPASy, EBI, Israel, Japan]
Brilliant M.H.;
"The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.";
Pigment Cell Res. 14:86-93(2001).
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[6]
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POSSIBLE INVOLVEMENT IN SKIN COLOR VARIATION.
PubMed=11601658 [NCBI, ExPASy, EBI, Israel, Japan]
Manga P.,
Orlow S.J.;
"Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1.";
Pigment Cell Res. 14:362-367(2001).
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[7]
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FUNCTION.
DOI=10.1016/j.tig.2004.06.010; PubMed=15262401 [NCBI, ExPASy, EBI, Israel, Japan]
Sturm R.A.,
Frudakis T.N.;
"Eye colour: portals into pigmentation genes and ancestry.";
Trends Genet. 20:327-332(2004).
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[8]
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REVIEW ON OCA2 VARIANTS.
DOI=10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.3.CO;2-3; PubMed=10094567 [NCBI, ExPASy, EBI, Israel, Japan]
Oetting W.S.,
King R.A.;
"Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.";
Hum. Mutat. 13:99-115(1999).
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[9]
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VARIANTS OCA2.
PubMed=7874125 [NCBI, ExPASy, EBI, Israel, Japan]
Lee S.-T.,
Nicholls R.D.,
Schnur R.E.,
Guida L.C.,
Lu-Kuo J.,
Spinner N.B.,
Zackai E.H.,
Spritz R.A.;
"Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).";
Hum. Mol. Genet. 3:2047-2051(1994).
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[10]
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VARIANTS OCA2.
PubMed=7762554 [NCBI, ExPASy, EBI, Israel, Japan]
Spritz R.A.,
Fukai K.,
Holmes S.A.,
Luande J.;
"Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).";
Am. J. Hum. Genet. 56:1320-1323(1995).
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[11]
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VARIANTS OCA2.
DOI=10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.3.CO;2-V; PubMed=9259203 [NCBI, ExPASy, EBI, Israel, Japan]
Spritz R.A.,
Lee S.-T.,
Fukai K.,
Brondum-Nielsen K.,
Chitayat D.,
Lipson M.H.,
Musarella M.A.,
Rosenmann A.,
Weleber R.G.;
"Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).";
Hum. Mutat. 10:175-177(1997).
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[12]
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VARIANTS OCA2 ARG-86; PHE-112; VAL-368; ILE-592; PRO-724 AND VAL-787, AND VARIANT ASP-257.
DOI=10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU15>3.3.CO;2-1; PubMed=10671067 [NCBI, ExPASy, EBI, Israel, Japan]
Oetting W.S.,
Gardner J.M.,
Fryer J.P.,
Ching A.,
Durham-Pierre D.,
King R.A.,
Brilliant M.H.;
"Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2).";
Hum. Mutat. 12:434-434(1998).
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[13]
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VARIANTS OCA2 GLY-290; ILE-443; GLU-614; LEU-617; CYS-679; CYS-720; ARG-795 AND VAL-833 DEL, AND VARIANTS TRP-305 AND GLN-419.
DOI=10.1007/s004390051090; PubMed=10987646 [NCBI, ExPASy, EBI, Israel, Japan]
Passmore L.A.,
Kaesmann-Kellner B.,
Weber B.H.F.;
"Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.";
Hum. Genet. 105:200-210(1999).
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[14]
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VARIANT OCA2 VAL-334, AND VARIANTS UNCLASSIFIED OCA MET-350; THR-370; LYS-678; PHE-688 AND LEU-743.
DOI=10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.3.CO;2-Q; PubMed=10649493 [NCBI, ExPASy, EBI, Israel, Japan]
Kerr R.,
Stevens G.,
Manga P.,
Salm S.,
John P.,
Haw T.,
Ramsay M.;
"Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.";
Hum. Mutat. 15:166-172(2000).
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[15]
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VARIANTS TRP-305 AND GLN-419, INVOLVEMENT IN DETERMINATION OF EYE COLOR, AND INVOLVEMENT IN SKIN CANCER RISK.
PubMed=12163334 [NCBI, ExPASy, EBI, Israel, Japan]
Rebbeck T.R.,
Kanetsky P.A.,
Walker A.H.,
Holmes R.,
Halpern A.C.,
Schuchter L.M.,
Elder D.E.,
Guerry D.;
"P gene as an inherited biomarker of human eye color.";
Cancer Epidemiol. Biomarkers Prev. 11:782-784(2002).
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[16]
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VARIANTS OCA2 GLY-290; ILE-443; ASP-489; CYS-679 AND LEU-743.
DOI=10.1086/377569; PubMed=12876664 [NCBI, ExPASy, EBI, Israel, Japan]
King R.A.,
Willaert R.K.,
Schmidt R.M.,
Pietsch J.,
Savage S.,
Brott M.J.,
Fryer J.P.,
Summers C.G.,
Oetting W.S.;
"MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).";
Am. J. Hum. Genet. 73:638-645(2003).
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[17]
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VARIANTS OCA2 THR-481 AND HIS-799.
DOI=10.1016/S0923-1811(03)00005-7; PubMed=12727022 [NCBI, ExPASy, EBI, Israel, Japan]
Kato A.,
Fukai K.,
Oiso N.,
Hosomi N.,
Saitoh S.,
Wada T.,
Shimizu H.,
Ishii M.;
"A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).";
J. Dermatol. Sci. 31:189-192(2003).
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[18]
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VARIANTS OCA2 TRP-10; LEU-198; LEU-211; ILE-394 AND THR-481, AND VARIANTS MET-387 AND ARG-615.
DOI=10.1046/j.1523-1747.2003.12127.x; PubMed=12713581 [NCBI, ExPASy, EBI, Israel, Japan]
Suzuki T.,
Miyamura Y.,
Matsunaga J.,
Shimizu H.,
Kawachi Y.,
Ohyama N.,
Ishikawa O.,
Ishikawa T.,
Terao H.,
Tomita Y.;
"Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.";
J. Invest. Dermatol. 120:781-783(2003).
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[19]
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VARIANTS TRP-305 AND GLN-419, AND INVOLVEMENT IN SUSCEPTIBILITY TO MELANOMA.
DOI=10.1038/sj.ejhg.5201415; PubMed=15889046 [NCBI, ExPASy, EBI, Israel, Japan]
Melan-Cohort;
Jannot A.-S.,
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.;
"Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.";
Eur. J. Hum. Genet. 13:913-920(2005).
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[20]
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INVOLVEMENT IN SHEP1.
DOI=10.1086/510885; PubMed=17236130 [NCBI, ExPASy, EBI, Israel, Japan]
Duffy D.L.,
Montgomery G.W.,
Chen W.,
Zhao Z.Z.,
Le L.,
James M.R.,
Hayward N.K.,
Martin N.G.,
Sturm R.A.;
"A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.";
Am. J. Hum. Genet. 80:241-252(2007).
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[21]
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VARIANT [LARGE SCALE ANALYSIS] THR-773.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F., ![]()
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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[22]
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INVOLVEMENT IN SHEP1.
DOI=10.1038/ng.2007.13; PubMed=17952075 [NCBI, ExPASy, EBI, Israel, Japan]
Sulem P.,
Gudbjartsson D.F.,
Stacey S.N.,
Helgason A.,
Rafnar T.,
Magnusson K.P.,
Manolescu A.,
Karason A.,
Palsson A.,
Thorleifsson G.,
Jakobsdottir M.,
Steinberg S.,
Palsson S.,
Jonasson F.,
Sigurgeirsson B.,
Thorisdottir K.,
Ragnarsson R.,
Benediktsdottir K.R.,
Aben K.K., ![]()
Kiemeney L.A.,
Olafsson J.H.,
Gulcher J.,
Kong A.,
Thorsteinsdottir U.,
Stefansson K.;
"Genetic determinants of hair, eye and skin pigmentation in Europeans.";
Nat. Genet. 39:1443-1452(2007).
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[23]
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VARIANTS OCA2 ILE-443; ASP-476; ARG-775 AND HIS-827.
DOI=10.1002/pd.1713; PubMed=17385796 [NCBI, ExPASy, EBI, Israel, Japan]
Hongyi L.,
Haiyun W.,
Hui Z.,
Qing W.,
Honglei D.,
Shu M.,
Weiying J.;
"Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.";
Prenat. Diagn. 27:502-506(2007).
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[24]
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INVOLVEMENT IN SHEP1.
DOI=10.1016/j.ajhg.2007.10.003; PubMed=18252221 [NCBI, ExPASy, EBI, Israel, Japan]
Kayser M.,
Liu F.,
Janssens A.C.J.W.,
Rivadeneira F.,
Lao O.,
van Duijn K.,
Vermeulen M.,
Arp P.,
Jhamai M.M.,
van Ijcken W.F.J.,
den Dunnen J.T.,
Heath S.,
Zelenika D.,
Despriet D.D.G.,
Klaver C.C.W.,
Vingerling J.R.,
de Jong P.T.V.M.,
Hofman A.,
Aulchenko Y.S., ![]()
Uitterlinden A.G.,
Oostra B.A.,
van Duijn C.M.;
"Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.";
Am. J. Hum. Genet. 82:411-423(2008).
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[25]
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INVOLVEMENT IN SHEP1 AND INVOLVEMENT IN SUSCEPTIBILITY TO MELANOMA.
DOI=10.1016/j.ajhg.2007.11.005; PubMed=18252222 [NCBI, ExPASy, EBI, Israel, Japan]
Sturm R.A.,
Duffy D.L.,
Zhao Z.Z.,
Leite F.P.M.,
Stark M.S.,
Hayward N.K.,
Martin N.G.,
Montgomery G.W.;
"A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.";
Am. J. Hum. Genet. 82:424-431(2008).
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[26]
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INVOLVEMENT IN SHEP1.
DOI=10.1007/s00439-007-0460-x; PubMed=18172690 [NCBI, ExPASy, EBI, Israel, Japan]
Eiberg H.,
Troelsen J.,
Nielsen M.,
Mikkelsen A.,
Mengel-From J.,
Kjaer K.W.,
Hansen L.;
"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).
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