{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:53:32Z","timestamp":1790967212705,"version":"4.1.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2001,11,1]],"date-time":"2001-11-01T00:00:00Z","timestamp":1004572800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4278,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2001,11]]},"DOI":"10.1086\/324340","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T17:11:32Z","timestamp":1027703492000},"page":"981-988","source":"Crossref","is-referenced-by-count":303,"title":["Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4"],"prefix":"10.1016","volume":"69","author":[{"given":"J.M.","family":"Newton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orit","family":"Cohen-Barak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuko","family":"Hagiwara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel T.","family":"Davisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murray H.","family":"Brilliant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/324340_bib8","first-page":"1145","article-title":"Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with Brown oculocutaneous albinism: a new type of albinism classified as \u201cOCA3\u201d","volume":"58","author":"Boissy","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/324340_bib9","doi-asserted-by":"crossref","first-page":"26226","DOI":"10.1074\/jbc.272.42.26226","article-title":"Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase","volume":"272","author":"Cooksey","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1086\/324340_bib10","doi-asserted-by":"crossref","first-page":"S40","DOI":"10.1101\/gr.4.1.S40","article-title":"On beyond classic RACE (rapid amplification of cDNA ends)","volume":"4","author":"Frohman","year":"1994","journal-title":"PCR Methods Appl"},{"key":"10.1086\/324340_bib11","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ng584","article-title":"Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka","volume":"28","author":"Fukamachi","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/324340_bib12","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1126\/science.257.5073.1121","article-title":"The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes","volume":"257","author":"Gardner","year":"1992","journal-title":"Science"},{"key":"10.1086\/324340_bib13","first-page":"1089","article-title":"Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells","volume":"61","author":"Harada","year":"2001","journal-title":"Cancer Res"},{"key":"10.1086\/324340_bib14","doi-asserted-by":"crossref","first-page":"2902","DOI":"10.1096\/fasebj.5.14.1752358","article-title":"Enzymatic control of pigmentation in mammals","volume":"5","author":"Hearing","year":"1991","journal-title":"FASEB J"},{"key":"10.1086\/324340_bib15","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1600-0749.1997.tb00478.x","article-title":"Melanin: a two edged sword?","volume":"10","author":"Hill","year":"1997","journal-title":"Pigment Cell Res"},{"key":"10.1086\/324340_bib16","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/j.1600-0749.1993.tb00580.x","article-title":"Deficiency of the gene B impairs differentiation of melanophores in the medaka fish, Oryzias latipes: fine structure studies","volume":"6","author":"Hirose","year":"1993","journal-title":"Pigment Cell Res"},{"key":"10.1086\/324340_bib17","doi-asserted-by":"crossref","first-page":"4392","DOI":"10.1073\/pnas.85.12.4392","article-title":"A cDNA encoding tyrosinase-related protein maps to the brown locus in mice","volume":"85","author":"Jackson","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/324340_bib18","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1093\/hmg\/6.10.1613","article-title":"Homologous pigmentation mutations in human, mouse and other model organisms","volume":"6","author":"Jackson","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/324340_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0378-1119(98)00522-8","article-title":"Human AIM-1: cDNA cloning and reduced expression during endomitosis in megakaryocyte-lineage cells","volume":"224","author":"Katayama","year":"1998","journal-title":"Gene"},{"key":"10.1086\/324340_bib20","series-title":"The pigmentary system: physiology and pathophysiology","first-page":"553","article-title":"Albinism","author":"King","year":"1998"},{"key":"10.1086\/324340_bib21","doi-asserted-by":"crossref","first-page":"7473","DOI":"10.1073\/pnas.84.21.7473","article-title":"Isolation and sequence of a cDNA locus for human tyrosinase that maps at the mouse c-albino locus","volume":"84","author":"Kwon","year":"1987","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/324340_bib22","doi-asserted-by":"crossref","first-page":"6297","DOI":"10.1016\/S0021-9258(18)42695-6","article-title":"Cloning of the cDNA for a Na+\/myo-inositol cotransporter, a hypertonicity stress protein","volume":"267","author":"Kwon","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1086\/324340_bib23","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1046\/j.1523-1747.2000.00107.x","article-title":"The underwhite (uw) locus acts autonomously and reduces the production of melanin via a unique pathway","volume":"115","author":"Lehman","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1086\/324340_bib24","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/S0005-2736(00)00142-5","article-title":"Sucrose transporters in plants: update on function and structure","volume":"1465","author":"Lemoine","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/324340_bib25","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1086\/301603","article-title":"Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene","volume":"61","author":"Manga","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/324340_bib26","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/(SICI)1098-1004(1998)12:6<433::AID-HUMU14>3.0.CO;2-G","article-title":"Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)","volume":"12","author":"Oetting","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1086\/324340_bib27","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/(SICI)1098-1004(1998)12:6<434::AID-HUMU15>3.0.CO;2-A","article-title":"Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)","volume":"12","author":"Oetting","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1086\/324340_bib28","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/1523-1747.ep12392743","article-title":"High-molecular weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex","volume":"103","author":"Orlow","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1086\/324340_bib29","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1007\/s004390051090","article-title":"Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population","volume":"105","author":"Passmore","year":"1999","journal-title":"Hum Genet"},{"key":"10.1086\/324340_bib30","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1046\/j.1523-1747.2000.00108.x","article-title":"Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes","volume":"115","author":"Puri","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1086\/324340_bib31","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/361072a0","article-title":"A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism","volume":"361","author":"Rinchik","year":"1993","journal-title":"Nature"},{"key":"10.1086\/324340_bib32","series-title":"The coat colors of mice","author":"Silvers","year":"1979"},{"key":"10.1086\/324340_bib33","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1046\/j.1365-313X.1999.00527.x","article-title":"The AtSUC1 sucrose carrier may represent the osmotic driving force for anther dehiscence and pollen tube growth in Arabidopsis","volume":"19","author":"Stadler","year":"1999","journal-title":"Plant J"},{"key":"10.1086\/324340_bib34","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1093\/jhered\/89.6.546","article-title":"A new allelic series for the underwhite gene on mouse chromosome 15","volume":"89","author":"Sweet","year":"1998","journal-title":"J Hered"},{"key":"10.1086\/324340_bib35","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1007\/s003359900852","article-title":"Cloning and tissue expression of the mouse ortholog of AIM1, a betagamma-crystallin superfamily member","volume":"9","author":"Teichmann","year":"1998","journal-title":"Mamm Genome"},{"key":"10.1086\/324340_bib36","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1016\/0006-291X(89)91767-1","article-title":"Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene","volume":"164","author":"Tomita","year":"1989","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/324340_bib37","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/j.1460-2075.1992.tb05082.x","article-title":"A second tyrosinase-related protein, TRP2, is a melanogenic enzyme termed DOPAchrome tautomerase","volume":"11","author":"Tsukamoto","year":"1992","journal-title":"EMBO J"},{"key":"10.1086\/324340_bib38","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1126\/science.7112124","article-title":"Living with water stress: evolution of osmolyte systems","volume":"217","author":"Yancey","year":"1982","journal-title":"Science"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707613147?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707613147?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T05:15:38Z","timestamp":1621228538000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707613147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,11]]},"references-count":31,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2001,11]]}},"alternative-id":["S0002929707613147"],"URL":"https:\/\/doi.org\/10.1086\/324340","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2001,11]]}}}