{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nOCA2 encodes a melanosomal transmembrane protein that plays a central regulatory role in human pigmentation. Genetic studies have shown that naturally occurring variants within OCA2—and in regulatory regions immediately upstream—are major determinants of iris, hair, and skin color variability. In particular, altered expression or subtle amino acid changes in OCA2 have been strongly associated with the spectrum of eye color (from blue to brown) in diverse populations, as well as with lighter hair and skin phenotypes. Mutations in this gene are responsible for oculocutaneous albinism type 2, underscoring its essential role in normal melanin production and distribution."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMore mechanistic investigations have revealed that OCA2 functions in melanosome biogenesis through the modulation of intracellular trafficking and processing of key melanogenic enzymes, most notably tyrosinase—the rate‐limiting enzyme in melanin synthesis. Both regulatory polymorphisms (for example, those in a conserved region within HERC2 that control OCA2 transcription) and coding variants (such as R419Q) influence OCA2’s ability to maintain proper melanosomal function, and their disruption leads to hypopigmentation characteristic of albinism. In addition, OCA2 variants can modify melanoma risk, either directly by altering melanin production or via epistatic interactions with other pigmentation genes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "14", "end_ref": "31"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nPopulation-based and forensic studies further emphasize that OCA2 variants underpin convergent pigmentation differences among ethnic groups and can be leveraged for phenotypic prediction. Analyses across diverse cohorts have not only linked common alleles of OCA2 to eye color prediction but also highlighted its role in evolutionary adaptations to varying ultraviolet environments, as well as in altering individual susceptibility to cutaneous malignancies. 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"}, {"type": "b", "children": [{"type": "t", "text": "Skin pigmentation, biogeographical ancestry and admixture mapping."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-002-0896-y"}], "href": "https://doi.org/10.1007/s00439-002-0896-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12579416"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12579416"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Clive J Hoggart, Eteban J Parra, Mark D Shriver, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Control of confounding of genetic associations in stratified populations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/375613"}], "href": "https://doi.org/10.1086/375613"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12817591"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12817591"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "William S Oetting, Sarah Savage Garrett, Marcia Brott, et al. "}, {"type": "b", "children": [{"type": "t", "text": "P gene mutations associated with oculocutaneous albinism type II (OCA2)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9318"}], "href": "https://doi.org/10.1002/humu.9318"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15712365"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15712365"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Anne-Sophie Jannot, Roubila Meziani, Guylene Bertrand, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.ejhg.5201415"}], "href": "https://doi.org/10.1038/sj.ejhg.5201415"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15889046"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15889046"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Pedro J Santiago Borrero, Yolanda Rodríguez-Pérez, Jessicca Y Renta, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Graefes Arch Clin Exp Ophthalmol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00417-005-0234-x"}], "href": "https://doi.org/10.1007/s00417-005-0234-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16453125"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16453125"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "David L Duffy, Grant W Montgomery, Wei Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/510885"}], "href": "https://doi.org/10.1086/510885"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17236130"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17236130"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Isao Yuasa, Kazuo Umetsu, Shinji Harihara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10038-007-0167-9"}], "href": "https://doi.org/10.1007/s10038-007-0167-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17568986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17568986"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "I Yuasa, K Umetsu, S Harihara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10528-007-9095-9"}], "href": "https://doi.org/10.1007/s10528-007-9095-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17570052"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17570052"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Tony Frudakis, Timothy Terravainen, Matthew Thomas "}, {"type": "b", "children": [{"type": "t", "text": "Multilocus OCA2 genotypes specify human iris colors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-007-0401-8"}], "href": "https://doi.org/10.1007/s00439-007-0401-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17619204"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17619204"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Patrick Sulem, Daniel F Gudbjartsson, Simon N Stacey, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jid.2008.147"}], "href": "https://doi.org/10.1038/jid.2008.147"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18528436"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18528436"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "L P Fernandez, R L Milne, G Pita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SLC45A2: a novel malignant melanoma-associated gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20804"}], "href": "https://doi.org/10.1002/humu.20804"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18563784"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18563784"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Anthony L Cook, Wei Chen, Amy E Thurber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jid.2008.211"}], "href": "https://doi.org/10.1038/jid.2008.211"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18650849"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18650849"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Mickaël Guedj, Agnès Bourillon, Christophe Combadières, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20823"}], "href": "https://doi.org/10.1002/humu.20823"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18683857"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18683857"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Karen Grønskov, Jakob Ek, Annie Sand, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.08-2639"}], "href": "https://doi.org/10.1167/iovs.08-2639"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19060277"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19060277"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Anand Sitaram, Rosanna Piccirillo, Ilaria Palmisano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e08-07-0710"}], "href": "https://doi.org/10.1091/mbc.e08-07-0710"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19116314"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19116314"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Wojciech Branicki, Urszula Brudnik, Anna Wojas-Pelc "}, {"type": "b", "children": [{"type": "t", "text": "Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1469-1809.2009.00504.x"}], "href": "https://doi.org/10.1111/j.1469-1809.2009.00504.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19208107"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19208107"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Lara P Fernandez, Roger L Milne, Guillermo Pita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pigmentation-related genes and their implication in malignant melanoma susceptibility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Dermatol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1600-0625.2009.00846.x"}], "href": "https://doi.org/10.1111/j.1600-0625.2009.00846.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19320733"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19320733"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Hongmei Nan, Peter Kraft, Abrar A Qureshi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study of tanning phenotype in a population of European ancestry."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jid.2009.62"}], "href": "https://doi.org/10.1038/jid.2009.62"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19340012"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19340012"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Hongmei Nan, Peter Kraft, David J Hunter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.24327"}], "href": "https://doi.org/10.1002/ijc.24327"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19384953"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19384953"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "David L Duffy, Zhen Z Zhao, Richard A Sturm, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jid.2009.258"}], "href": "https://doi.org/10.1038/jid.2009.258"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19710684"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19710684"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Aihua Wei, Yu Wang, Yan Long, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jid.2009.339"}], "href": "https://doi.org/10.1038/jid.2009.339"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19865097"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19865097"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Elizabeth M Azzato, Jonathan Tyrer, Peter A Fasching, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Natl Cancer Inst (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jnci/djq057"}], "href": "https://doi.org/10.1093/jnci/djq057"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20308648"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20308648"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Jonas Mengel-From, Claus Børsting, Juan J Sanchez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human eye colour and HERC2, OCA2 and MATP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Forensic Sci Int Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.fsigen.2009.12.004"}], "href": "https://doi.org/10.1016/j.fsigen.2009.12.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20457063"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20457063"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "Nicholas Eriksson, J Michael Macpherson, Joyce Y Tung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Web-based, participant-driven studies yield novel genetic associations for common traits."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1000993"}], "href": "https://doi.org/10.1371/journal.pgen.1000993"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20585627"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20585627"}]}, {"type": "r", "ref": 35, "children": [{"type": "t", "text": "Maider Ibarrola-Villava, Lara P Fernandez, Guillermo Pita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Dermatol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1600-0625.2010.01115.x"}], "href": "https://doi.org/10.1111/j.1600-0625.2010.01115.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20629734"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20629734"}]}, {"type": "r", "ref": 36, "children": [{"type": "t", "text": "Annagiusi Gargiulo, Francesco Testa, Settimio Rossi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular and clinical characterization of albinism in a large cohort of Italian patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.10-6091"}], "href": "https://doi.org/10.1167/iovs.10-6091"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20861488"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20861488"}]}, {"type": "r", "ref": 37, "children": [{"type": "t", "text": "Jason E Hawkes, Pamela B Cassidy, Prashiela Manga, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Dermatol Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jdermsci.2012.09.016"}], "href": "https://doi.org/10.1016/j.jdermsci.2012.09.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23103111"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23103111"}]}, {"type": "r", "ref": 38, "children": [{"type": "t", "text": "Yuko Abe, Gen Tamiya, Tomohiro Nakamura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of melanogenesis genes with skin color variation among Japanese females."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Dermatol Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jdermsci.2012.10.016"}], "href": "https://doi.org/10.1016/j.jdermsci.2012.10.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23165166"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23165166"}]}, {"type": "r", "ref": 39, "children": [{"type": "t", "text": "Conrado Martinez-Cadenas, Maria Peña-Chilet, Maider Ibarrola-Villava, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Forensic Sci Int Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.fsigen.2013.03.007"}], "href": "https://doi.org/10.1016/j.fsigen.2013.03.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23601698"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23601698"}]}, {"type": "r", "ref": 40, "children": [{"type": "t", "text": "Balu Kamaraj, Rituraj Purohit "}, {"type": "b", "children": [{"type": "t", "text": "Computational screening of disease-associated mutations in OCA2 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Biochem Biophys (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12013-013-9697-2"}], "href": "https://doi.org/10.1007/s12013-013-9697-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23824587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23824587"}]}, {"type": "r", "ref": 41, "children": [{"type": "t", "text": "Mijke Visser, Manfred Kayser, Frank Grosveld, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pigment Cell Melanoma Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/pcmr.12210"}], "href": "https://doi.org/10.1111/pcmr.12210"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24387780"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24387780"}]}, {"type": "r", "ref": 42, "children": [{"type": "t", "text": "Adrian M Fischl, Paula M Heron, Arnold J Stromberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Activity-dependent genes in mouse olfactory sensory neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Chem Senses (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/chemse/bju015"}], "href": "https://doi.org/10.1093/chemse/bju015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24692514"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24692514"}]}, {"type": "r", "ref": 43, "children": [{"type": "t", "text": "Katherine Eaton, Melissa Edwards, S Krithika, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajhb.22678"}], "href": "https://doi.org/10.1002/ajhb.22678"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25809079"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25809079"}]}, {"type": "r", "ref": 44, "children": [{"type": "t", "text": "Zhaohui Yang, Hua Zhong, Jing Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Evol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/molbev/msw003"}], "href": "https://doi.org/10.1093/molbev/msw003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26744415"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26744415"}]}]}]}