{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T03:09:09Z","timestamp":1792120149556,"version":"4.4.0"},"reference-count":60,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2003,9,1]],"date-time":"2003-09-01T00:00:00Z","timestamp":1062374400000},"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":3609,"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":[[2003,9]]},"DOI":"10.1086\/377569","type":"journal-article","created":{"date-parts":[[2003,8,21]],"date-time":"2003-08-21T16:52:44Z","timestamp":1061484764000},"page":"638-645","source":"Crossref","is-referenced-by-count":83,"title":["MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2)"],"prefix":"10.1016","volume":"73","author":[{"given":"Richard A.","family":"King","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca K.","family":"Willaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramona M.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacy","family":"Pietsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Savage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia J.","family":"Brott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James P.","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Gail","family":"Summers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S.","family":"Oetting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/377569_bib3","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1007\/s004390100524","article-title":"Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population","volume":"108","author":"Akey","year":"2001","journal-title":"Hum Genet"},{"key":"10.1086\/377569_bib4","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng576","article-title":"Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico","volume":"28","author":"Anikster","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/377569_bib5","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1086\/323412","article-title":"MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations","volume":"69","author":"Box","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377569_bib6","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1046\/j.1523-1747.2001.01224.x","article-title":"Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma","volume":"116","author":"Box","year":"2001","journal-title":"J Invest Dermatol"},{"key":"10.1086\/377569_bib7","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1093\/hmg\/6.11.1891","article-title":"Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair","volume":"6","author":"Box","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/377569_bib8","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S1097-2765(00)80170-7","article-title":"Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the \u03b2 3A subunit of the AP-3 adaptor","volume":"3","author":"Dell\u2019Angelica","year":"1999","journal-title":"Mol Cell"},{"key":"10.1086\/377569_bib9","first-page":"1198","article-title":"Correlation between rod photoreceptor numbers and levels of ocular pigmentation","volume":"43","author":"Donatien","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1086\/377569_bib10","doi-asserted-by":"crossref","first-page":"2531","DOI":"10.1093\/hmg\/9.17.2531","article-title":"Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation","volume":"9","author":"Flanagan","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/377569_bib11","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1006\/bbrc.1998.8459","article-title":"Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor","volume":"245","author":"Frandberg","year":"1998","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/377569_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\/377569_bib13","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1017\/S095252380118209X","article-title":"Rod photopigment deficits in albinos are specific to mammals and arise during retinal development","volume":"18","author":"Grant","year":"2001","journal-title":"Vis Neurosci"},{"key":"10.1086\/377569_bib14","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/S0379-0738(01)00480-7","article-title":"Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype","volume":"122","author":"Grimes","year":"2001","journal-title":"Forensic Science International"},{"key":"10.1086\/377569_bib15","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1086\/302863","article-title":"Evidence for variable selective pressures at MC1R","volume":"66","author":"Harding","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377569_bib16","doi-asserted-by":"crossref","first-page":"2397","DOI":"10.1093\/hmg\/10.21.2397","article-title":"Functional variation of MC1R alleles from red-haired individuals","volume":"10","author":"Healy","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1086\/377569_bib17","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1034\/j.1600-0749.13.s8.7.x","article-title":"The melanosome: the perfect model for cellular responses to the environment","volume":"13","author":"Hearing","year":"2000","journal-title":"Pigment Cell Res"},{"key":"10.1086\/377569_bib18","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1086\/324168","article-title":"Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency","volume":"69","author":"Huizing","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377569_bib19","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/0165-3806(96)00075-2","article-title":"Delayed neurogenesis in the albino retina: evidence of a role for melanin in regulating the pace of cell generation","volume":"95","author":"Ilia","year":"1996","journal-title":"Brain Res Dev Brain Res"},{"key":"10.1086\/377569_bib20","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1006\/mgme.1999.2927","article-title":"Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome","volume":"68","author":"Introne","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1086\/377569_bib21","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1046\/j.0022-202x.2001.01421.x","article-title":"Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color","volume":"117","author":"Kennedy","year":"2001","journal-title":"J Invest Dermatol"},{"key":"10.1086\/377569_bib22","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z","article-title":"Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa","volume":"15","author":"Kerr","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1086\/377569_bib23","series-title":"The metabolic & molecular bases of inherited disease","first-page":"5587","article-title":"Albinism","author":"King","year":"2001"},{"key":"10.1086\/377569_bib24","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/(SICI)1098-1004(1997)9:1<30::AID-HUMU5>3.0.CO;2-T","article-title":"Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects","volume":"9","author":"Koppula","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1086\/377569_bib25","doi-asserted-by":"crossref","first-page":"229","DOI":"10.3109\/13816819009020984","article-title":"Red or rufous albinism in southern Africa","volume":"11","author":"Kromberg","year":"1990","journal-title":"Ophthalmic Paediatr Genet"},{"key":"10.1086\/377569_bib26","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1056\/NEJM199402243300803","article-title":"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism","volume":"330","author":"Lee","year":"1994","journal-title":"N Engl J Med"},{"key":"10.1086\/377569_bib27","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/0888-7543(95)80220-G","article-title":"Organization and sequence of the human P gene and identification of a new family of transport pump proteins","volume":"26","author":"Lee","year":"1995","journal-title":"Genomics"},{"key":"10.1086\/377569_bib28","first-page":"2047","article-title":"Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)","volume":"3","author":"Lee","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/377569_bib29","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\/377569_bib30","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1126\/science.1325670","article-title":"The cloning of a family of genes that encode the melanocortin receptors","volume":"257","author":"Mountjoy","year":"1992","journal-title":"Science"},{"key":"10.1086\/377569_bib31","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1086\/324340","article-title":"Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4","volume":"69","author":"Newton","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377569_bib32","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/s003350010005","article-title":"Melanocortin 1 receptor variation in the domestic dog","volume":"11","author":"Newton","year":"2000","journal-title":"Mamm Genome"},{"key":"10.1086\/377569_bib33","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/elps.1150150127","article-title":"Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons","volume":"15","author":"Oetting","year":"1994","journal-title":"Electrophoresis"},{"key":"10.1086\/377569_bib34","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\/377569_bib35","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C","article-title":"Molecular basis of albinism: mutations and polymorphisms of pigment genes associated with albinism","volume":"13","author":"Oetting","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1086\/377569_bib36","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1006\/exer.1998.0599","article-title":"The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye","volume":"68","author":"Orlow","year":"1999","journal-title":"Exp Eye Res"},{"key":"10.1086\/377569_bib37","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1086\/302711","article-title":"Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?","volume":"66","author":"Palmer","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/377569_bib38","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\/377569_bib39","series-title":"Melanins and melanogenesis","author":"Prota","year":"1992"},{"key":"10.1086\/377569_bib40","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\/377569_bib41","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1016\/S0960-9822(95)00255-7","article-title":"The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina","volume":"5","author":"Raymond","year":"1995","journal-title":"Curr Biol"},{"key":"10.1086\/377569_bib42","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/0092-8674(93)90572-8","article-title":"Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function","volume":"72","author":"Robbins","year":"1993","journal-title":"Cell"},{"key":"10.1086\/377569_bib43","doi-asserted-by":"crossref","first-page":"12071","DOI":"10.1073\/pnas.91.25.12071","article-title":"Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene","volume":"91","author":"Rosemblat","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/377569_bib44","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1001\/archderm.137.11.1477","article-title":"The melanocortin-1 receptor: red hair and beyond","volume":"137","author":"Schaffer","year":"2001","journal-title":"Arch Dermatol"},{"key":"10.1086\/377569_bib45","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1006\/bbrc.1999.0935","article-title":"Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair","volume":"260","author":"Schioth","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/377569_bib46","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1111\/j.1600-0749.1990.tb00299.x","article-title":"Further evidence for synthesis of screening pigment granules involved in the photosensory membrane turnover of the crayfish photoreceptor","volume":"3","author":"Schraermeyer","year":"1990","journal-title":"Pigment Cell Res"},{"key":"10.1086\/377569_bib47","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1111\/j.1600-0749.1999.tb00755.x","article-title":"Current understanding on the role of retinal pigment epithelium and its pigmentation","volume":"12","author":"Schraermeyer","year":"1999","journal-title":"Pigment Cell Res"},{"key":"10.1086\/377569_bib48","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1006\/mgme.1998.2729","article-title":"Hermansky-Pudlak syndrome: models for intracellular vesicle formation","volume":"65","author":"Shotelersuk","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1086\/377569_bib49","series-title":"The coat colors of mice: a model for mammalian gene action and interaction","author":"Silvers","year":"1979"},{"key":"10.1086\/377569_bib50","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0378-1119(01)00791-0","article-title":"The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution","volume":"281","author":"Smith","year":"2001","journal-title":"Gene"},{"key":"10.1086\/377569_bib51","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X","article-title":"Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)","volume":"10","author":"Spritz","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1086\/377569_bib52","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1097\/00008390-200209000-00001","article-title":"Skin colour and skin cancer: MC1R, the genetic link","volume":"12","author":"Sturm","year":"2002","journal-title":"Melanoma Res"},{"key":"10.1086\/377569_bib53","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S0378-1119(01)00694-1","article-title":"Human pigmentation genes: identification, structure and consequences of polymorphic variation","volume":"277","author":"Sturm","year":"2001","journal-title":"Gene"},{"key":"10.1086\/377569_bib54","first-page":"1095","article-title":"Vision in albinism","volume":"94","author":"Summers","year":"1996","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1086\/377569_bib55","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.1320400316","article-title":"Variable expression of vision in sibs with albinism","volume":"40","author":"Summers","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1086\/377569_bib56","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0161-6420(88)33152-0","article-title":"Hermansky-Pudlak syndrome: ophthalmic findings","volume":"95","author":"Summers","year":"1988","journal-title":"Ophthalmology"},{"key":"10.1086\/377569_bib57","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/S0002-9394(14)70647-6","article-title":"Diagnosis of oculocutaneous albinism with molecular analysis","volume":"121","author":"Summers","year":"1996","journal-title":"Am J Ophthalmol"},{"key":"10.1086\/377569_bib58","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/ng835","article-title":"Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene","volume":"30","author":"Suzuki","year":"2002","journal-title":"Nat Genet"},{"key":"10.1086\/377569_bib59","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1096\/fj.01-0216com","article-title":"Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins","volume":"15","author":"Toyofuku","year":"2001","journal-title":"FASEB J"},{"key":"10.1086\/377569_bib60","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng1195-328","article-title":"Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans","volume":"11","author":"Valverde","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/377569_bib61","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1093\/hmg\/5.10.1663","article-title":"The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma","volume":"5","author":"Valverde","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/377569_bib62","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng1087","article-title":"Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6","volume":"33","author":"Zhang","year":"2003","journal-title":"Nat Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707620266?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707620266?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T07:56:28Z","timestamp":1585122988000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707620266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,9]]},"references-count":60,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,9]]}},"alternative-id":["S0002929707620266"],"URL":"https:\/\/doi.org\/10.1086\/377569","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2003,9]]}}}