{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T21:45:55Z","timestamp":1788299155733,"version":"build-2803163510"},"reference-count":67,"publisher":"Public Library of Science (PLoS)","issue":"9","license":[{"start":{"date-parts":[[2020,9,23]],"date-time":"2020-09-23T00:00:00Z","timestamp":1600819200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0238529","type":"journal-article","created":{"date-parts":[[2020,9,23]],"date-time":"2020-09-23T17:23:20Z","timestamp":1600881800000},"page":"e0238529","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":24,"title":["Germline and somatic albinism variants in amelanotic\/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants"],"prefix":"10.1371","volume":"15","author":[{"given":"Jenna E.","family":"Rayner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7227-632X","authenticated-orcid":true,"given":"David L.","family":"Duffy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3288-3659","authenticated-orcid":true,"given":"Darren J.","family":"Smit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8761-132X","authenticated-orcid":true,"given":"Kasturee","family":"Jagirdar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9000-3226","authenticated-orcid":true,"given":"Katie J.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5189-8701","authenticated-orcid":true,"given":"Brian","family":"De\u2019Ambrosis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. Mark","family":"Smithers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7834-1134","authenticated-orcid":true,"given":"Erin K.","family":"McMeniman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aideen M.","family":"McInerney-Leo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3195-2517","authenticated-orcid":true,"given":"Helmut","family":"Schaider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4510-2161","authenticated-orcid":true,"given":"Mitchell S.","family":"Stark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4770-561X","authenticated-orcid":true,"given":"H. Peter","family":"Soyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1301-0294","authenticated-orcid":true,"given":"Richard A.","family":"Sturm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2020,9,23]]},"reference":[{"issue":"1","key":"pone.0238529.ref001","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/pcmr.12167","article-title":"Increasing the complexity: new genes and new types of albinism.","volume":"27","author":"L Montoliu","year":"2014","journal-title":"Pigment cell & melanoma research"},{"issue":"5","key":"pone.0238529.ref002","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1111\/1346-8138.12170","article-title":"Albinism in Europe.","volume":"40","author":"M Martinez-Garcia","year":"2013","journal-title":"J Dermatol"},{"issue":"4","key":"pone.0238529.ref003","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/pcmr.12688","article-title":"Molecular characterization of a series of 990 index patients with albinism","volume":"31","author":"E Lasseaux","year":"2018","journal-title":"Pigment cell & melanoma research"},{"issue":"1","key":"pone.0238529.ref004","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000468538","article-title":"Skin Pigmentation Genetics for the Clinic.","volume":"233","author":"SA Ainger","year":"2017","journal-title":"Dermatology (Basel, Switzerland)."},{"key":"pone.0238529.ref005","article-title":"The Genetics of Human Skin and Hair Pigmentation.","author":"WJ Pavan","year":"2019","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"3","key":"pone.0238529.ref006","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/humu.20143","article-title":"Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation","volume":"25","author":"J Graf","year":"2005","journal-title":"Human mutation"},{"issue":"5755","key":"pone.0238529.ref007","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1126\/science.1116238","article-title":"SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans","volume":"310","author":"RL Lamason","year":"2005","journal-title":"Science (New York, NY)."},{"issue":"1\u20132","key":"pone.0238529.ref008","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s11010-015-2337-y","article-title":"Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2","volume":"403","author":"S Park","year":"2015","journal-title":"Molecular and cellular biochemistry"},{"key":"pone.0238529.ref009","first-page":"1","article-title":"Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders.","author":"F Ehrhart","year":"2018","journal-title":"World J Biol Psychiatry"},{"issue":"4","key":"pone.0238529.ref010","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/ajmg.10095","article-title":"Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation","volume":"104","author":"K Akahoshi","year":"2001","journal-title":"Am J Med Genet"},{"issue":"3","key":"pone.0238529.ref011","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1002\/ajmg.a.20580","article-title":"Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia.","volume":"126A","author":"K Akahoshi","year":"2004","journal-title":"Am J Med Genet"},{"issue":"2","key":"pone.0238529.ref012","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1086\/510885","article-title":"A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation","volume":"80","author":"DL Duffy","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"2","key":"pone.0238529.ref013","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.ajhg.2007.11.005","article-title":"A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color","volume":"82","author":"RA Sturm","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"2","key":"pone.0238529.ref014","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/jid.2009.258","article-title":"Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma","volume":"130","author":"DL Duffy","year":"2010","journal-title":"The Journal of investigative dermatology"},{"issue":"2","key":"pone.0238529.ref015","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1111\/bjd.15093","article-title":"Dermoscopic diagnosis of amelanotic\/hypomelanotic melanoma","volume":"177","author":"MA Pizzichetta","year":"2017","journal-title":"The British journal of dermatology"},{"issue":"6","key":"pone.0238529.ref016","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1111\/j.1365-2133.2004.05928.x","article-title":"Amelanotic\/hypomelanotic melanoma: clinical and dermoscopic features","volume":"150","author":"MA Pizzichetta","year":"2004","journal-title":"The British journal of dermatology"},{"issue":"3","key":"pone.0238529.ref017","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1097\/CMR.0000000000000571","article-title":"Amelanotic melanoma.","volume":"29","author":"HZ Gong","year":"2019","journal-title":"Melanoma Res"},{"issue":"6","key":"pone.0238529.ref018","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1111\/jdv.15446","article-title":"Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients","volume":"33","author":"JE Rayner","year":"2019","journal-title":"Journal of the European Academy of Dermatology and Venereology"},{"issue":"5","key":"pone.0238529.ref019","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1111\/bjd.16323","article-title":"Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study","volume":"178","author":"AM Laino","year":"2018","journal-title":"The British journal of dermatology"},{"issue":"8","key":"pone.0238529.ref020","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1111\/exd.13114","article-title":"GSTP1 does not modify MC1R effects on melanoma risk","volume":"26","author":"GM Daley","year":"2017","journal-title":"Exp Dermatol"},{"issue":"1","key":"pone.0238529.ref021","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/jid.2013.272","article-title":"Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients","volume":"134","author":"RA Sturm","year":"2014","journal-title":"The Journal of investigative dermatology"},{"issue":"2","key":"pone.0238529.ref022","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/j.jid.2019.05.032","article-title":"Genes Determining Nevus Count and Dermoscopic Appearance in Australian Melanoma Cases and Controls","volume":"140","author":"DL Duffy","year":"2020","journal-title":"The Journal of investigative dermatology"},{"issue":"7","key":"pone.0238529.ref023","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.1016\/j.jid.2018.02.012","article-title":"Whole-Exome Sequencing of Acquired Nevi Identifies Mechanisms for Development and Maintenance of Benign Neoplasms","volume":"138","author":"MS Stark","year":"2018","journal-title":"The Journal of investigative dermatology"},{"issue":"14","key":"pone.0238529.ref024","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"16","key":"pone.0238529.ref025","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"3","key":"pone.0238529.ref026","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1101\/gr.129684.111","article-title":"VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing","volume":"22","author":"DC Koboldt","year":"2012","journal-title":"Genome Res"},{"issue":"16","key":"pone.0238529.ref027","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"K Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"pone.0238529.ref028","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1002\/humu.21517","article-title":"dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions","volume":"32","author":"X Liu","year":"2011","journal-title":"Human mutation"},{"issue":"7","key":"pone.0238529.ref029","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.","volume":"4","author":"P Kumar","year":"2009","journal-title":"Nat Protoc."},{"issue":"4","key":"pone.0238529.ref030","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations.","volume":"7","author":"IA Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"9","key":"pone.0238529.ref031","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gr.092619.109","article-title":"Identification of deleterious mutations within three human genomes","volume":"19","author":"S Chun","year":"2009","journal-title":"Genome Res"},{"issue":"8","key":"pone.0238529.ref032","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations.","volume":"7","author":"JM Schwarz","year":"2010","journal-title":"Nat Methods"},{"issue":"2","key":"pone.0238529.ref033","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/s41431-018-0279-z","article-title":"The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design","volume":"27","author":"P Lacaze","year":"2019","journal-title":"European Journal of Human Genetics"},{"issue":"12","key":"pone.0238529.ref034","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1056\/NEJMp1607591","article-title":"Toward a Shared Vision for Cancer Genomic Data","volume":"375","author":"RL Grossman","year":"2016","journal-title":"N Engl J Med"},{"key":"pone.0238529.ref035","first-page":"A197","article-title":"'Sib-pair: a program for non-parametric linkage\/association analysis.'.","volume":"61","author":"DL Duffy","year":"1997","journal-title":"Am J Hum Genet"},{"key":"pone.0238529.ref036","volume-title":"R: A Language and Environment for Statistical Computing","author":"R Core Team","year":"2016"},{"key":"pone.0238529.ref037","unstructured":"Ripley WNVaBD. Modern Applied Statistics with S. (Springer: New York); 2002."},{"issue":"2","key":"pone.0238529.ref038","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.ajhg.2018.12.012","article-title":"Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies","volume":"104","author":"H Chen","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"7616","key":"pone.0238529.ref039","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"M Lek","year":"2016","journal-title":"Nature"},{"issue":"4","key":"pone.0238529.ref040","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1111\/pcmr.12253","article-title":"Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits","volume":"27","author":"K Jagirdar","year":"2014","journal-title":"Pigment cell & melanoma research"},{"issue":"1","key":"pone.0238529.ref041","doi-asserted-by":"crossref","first-page":"4415","DOI":"10.1038\/s41598-017-04401-5","article-title":"Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).","volume":"7","author":"CS Norman","year":"2017","journal-title":"Scientific reports."},{"issue":"1","key":"pone.0238529.ref042","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1038\/s41598-018-37272-5","article-title":"A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.","volume":"9","author":"K Gronskov","year":"2019","journal-title":"Scientific reports."},{"issue":"1","key":"pone.0238529.ref043","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.jdermsci.2012.09.016","article-title":"Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree","volume":"69","author":"JE Hawkes","year":"2013","journal-title":"J Dermatol Sci"},{"issue":"5","key":"pone.0238529.ref044","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/j.1755-148X.2009.00606.x","article-title":"Genetics of human iris colour and patterns","volume":"22","author":"RA Sturm","year":"2009","journal-title":"Pigment cell & melanoma research"},{"issue":"5","key":"pone.0238529.ref045","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1007\/s00439-011-1110-x","article-title":"A global view of the OCA2-HERC2 region and pigmentation","volume":"131","author":"MP Donnelly","year":"2012","journal-title":"Hum Genet"},{"issue":"11","key":"pone.0238529.ref046","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1101\/gr.233304.117","article-title":"Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes","volume":"28","author":"T Zhang","year":"2018","journal-title":"Genome research"},{"issue":"2","key":"pone.0238529.ref047","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.cell.2018.03.039","article-title":"Pathogenic Germline Variants in 10,389 Adult Cancers","volume":"173","author":"KL Huang","year":"2018","journal-title":"Cell"},{"key":"pone.0238529.ref048","doi-asserted-by":"crossref","first-page":"12064","DOI":"10.1038\/ncomms12064","article-title":"Germline MC1R status influences somatic mutation burden in melanoma","volume":"7","author":"CD Robles-Espinoza","year":"2016","journal-title":"Nature Communications"},{"issue":"3","key":"pone.0238529.ref049","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1097\/CMR.0b013e32832a1e18","article-title":"CDKN2A and MC1R analysis in amelanotic and pigmented melanoma","volume":"19","author":"P Ghiorzo","year":"2009","journal-title":"Melanoma Res"},{"issue":"10","key":"pone.0238529.ref050","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1001\/jamadermatol.2017.2444","article-title":"Association of Incident Amelanotic Melanoma With Phenotypic Characteristics, MC1R Status, and Prior Amelanotic Melanoma","volume":"153","author":"S Vernali","year":"2017","journal-title":"JAMA dermatology"},{"issue":"24","key":"pone.0238529.ref051","doi-asserted-by":"crossref","first-page":"4886","DOI":"10.1093\/hmg\/ddx368","article-title":"Rare germline variants in known melanoma susceptibility genes in familial melanoma","volume":"26","author":"AM Goldstein","year":"2017","journal-title":"Hum Mol Genet"},{"issue":"2","key":"pone.0238529.ref052","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/jhg.2009.130","article-title":"Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community","volume":"55","author":"HC Johanson","year":"2010","journal-title":"Journal of human genetics"},{"issue":"2","key":"pone.0238529.ref053","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.jdermsci.2012.10.016","article-title":"Association of melanogenesis genes with skin color variation among Japanese females","volume":"69","author":"Y Abe","year":"2013","journal-title":"J Dermatol Sci"},{"issue":"12","key":"pone.0238529.ref054","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1039\/C7PP00411G","article-title":"Melanoma\u2014role of the environment and genetics","volume":"17","author":"AE Cust","year":"2018","journal-title":"Photochem Photobiol Sci"},{"issue":"6","key":"pone.0238529.ref055","doi-asserted-by":"crossref","first-page":"e333","DOI":"10.1111\/bjd.15687","article-title":"Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study","volume":"177","author":"S Ribero","year":"2017","journal-title":"Br J Dermatol"},{"issue":"1","key":"pone.0238529.ref056","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.ccell.2018.06.005","article-title":"Genomic and Transcriptomic Analysis Reveals Incremental Disruption of Key Signaling Pathways during Melanoma Evolution","volume":"34","author":"AH Shain","year":"2018","journal-title":"Cancer Cell"},{"issue":"8","key":"pone.0238529.ref057","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/sj.ejhg.5201415","article-title":"Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.","volume":"13","author":"AS Jannot","year":"2005","journal-title":"Eur J Hum Genet"},{"issue":"7","key":"pone.0238529.ref058","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1111\/j.1600-0625.2009.00846.x","article-title":"Pigmentation-related genes and their implication in malignant melanoma susceptibility","volume":"18","author":"LP Fernandez","year":"2009","journal-title":"Exp Dermatol"},{"issue":"9","key":"pone.0238529.ref059","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1002\/humu.20823","article-title":"Variants of the MATP\/SLC45A2 gene are protective for melanoma in the French population","volume":"29","author":"M Guedj","year":"2008","journal-title":"Human mutation"},{"issue":"1","key":"pone.0238529.ref060","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ajhg.2010.05.017","article-title":"IRF4 variants have age-specific effects on nevus count and predispose to melanoma","volume":"87","author":"DL Duffy","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"24","key":"pone.0238529.ref061","doi-asserted-by":"crossref","first-page":"5012","DOI":"10.1093\/hmg\/ddr415","article-title":"Genome-wide association study identifies novel loci predisposing to cutaneous melanoma","volume":"20","author":"CI Amos","year":"2011","journal-title":"Hum Mol Genet"},{"issue":"14","key":"pone.0238529.ref062","doi-asserted-by":"crossref","first-page":"2948","DOI":"10.1093\/hmg\/ddt142","article-title":"Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans","volume":"22","author":"M Zhang","year":"2013","journal-title":"Hum Mol Genet"},{"issue":"1","key":"pone.0238529.ref063","doi-asserted-by":"crossref","first-page":"4774","DOI":"10.1038\/s41467-018-06649-5","article-title":"Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways","volume":"9","author":"DL Duffy","year":"2018","journal-title":"Nature Communications"},{"issue":"1","key":"pone.0238529.ref064","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/1523-1747.ep12285621","article-title":"Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.","volume":"108","author":"EV Sviderskaya","year":"1997","journal-title":"The Journal of investigative dermatology"},{"key":"pone.0238529.ref065","article-title":"Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A\/CDK4 melanoma families","author":"TP Potjer","year":"2018","journal-title":"International journal of cancer"},{"key":"pone.0238529.ref066","article-title":"Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma","author":"V Nathan","year":"2019","journal-title":"Pigment cell & melanoma research"},{"issue":"2","key":"pone.0238529.ref067","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/pcmr.12210","article-title":"Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation","volume":"27","author":"M Visser","year":"2014","journal-title":"Pigment cell & melanoma research"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0238529","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,23]],"date-time":"2020-09-23T17:24:42Z","timestamp":1600881882000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0238529"}},"subtitle":[],"editor":[{"given":"Ludmila","family":"Prokunina-Olsson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2020,9,23]]},"references-count":67,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2020,9,23]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0238529","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,23]]}}}