{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:02:41Z","timestamp":1790470961889,"version":"4.1.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T00:00:00Z","timestamp":1181779200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2007,8]]},"DOI":"10.1007\/s10038-007-0167-9","type":"journal-article","created":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T06:29:26Z","timestamp":1181802566000},"page":"690-693","source":"Crossref","is-referenced-by-count":22,"title":["OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations"],"prefix":"10.1038","volume":"52","author":[{"given":"Isao","family":"Yuasa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuo","family":"Umetsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Harihara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Miyoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naruya","family":"Saitou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung Sook","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bumbein","family":"Dashnyam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9rard","family":"Lucotte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prasanta K.","family":"Chattopadhyay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotte","family":"Henke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Henke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,6,14]]},"reference":[{"key":"167_CR1","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1086\/510885","volume":"80","author":"DL Duffy","year":"2007","unstructured":"Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA (2007) A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet 80:241\u2013252","journal-title":"Am J Hum Genet"},{"key":"167_CR2","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1177\/117693430500100003","volume":"1","author":"L Excoffier","year":"2005","unstructured":"Excoffier L, Laval G, Schneider S (2005) Arlequin ver 3.0: an integrated software package for population genetics data analysis. Evol Bioinf Online 1:47\u201350","journal-title":"Evol Bioinf Online"},{"key":"167_CR3","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1007\/s00417-005-0234-x","volume":"244","author":"J Graw","year":"2006","unstructured":"Graw J, Klopp N, Illig T, Preising MN, Lorenz B (2006) Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. Graefes Arch Clin Exp Ophthalmol 244:912\u2013919","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"167_CR4","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/s10038-005-0322-0","volume":"51","author":"MF Hammer","year":"2006","unstructured":"Hammer MF, Karafet TM, Park H, Omoto K, Harihara S, Stoneking M, Horai S (2006) Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes. J Hum Genet 51:47\u201358","journal-title":"J Hum Genet"},{"key":"167_CR5","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.jdermsci.2006.07.006","volume":"44","author":"S Ito","year":"2006","unstructured":"Ito S, Suzuki T, Inagaki K, Suzuki N, Kono M, Tomita Y, Iwamoto T, Mochizuki N (2006) Two novel mutations detected in Japanese patients with oculocutaneous albinism. J Dermatol Sci 44:116\u2013118","journal-title":"J Dermatol Sci"},{"key":"167_CR6","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.1093\/molbev\/msl030","volume":"23","author":"N Izagirre","year":"2006","unstructured":"Izagirre N, Garc\u00eda I, Junquera C, de la R\u00faa C, Alonso S (2006) A scan for signature of positive selection in candidate loci for skin pigmentation in humans. Mol Biol Evol 23:1697\u20131706","journal-title":"Mol Biol Evol"},{"key":"167_CR7","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1006\/jhev.2000.0403","volume":"39","author":"NG Jablonski","year":"2000","unstructured":"Jablonski NG, Chaplin G (2000) The evolution of skin coloration. J Hum Evol 39:57\u2013106","journal-title":"J Hum Evol"},{"key":"167_CR8","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/S0923-1811(03)00005-7","volume":"31","author":"A Kato","year":"2003","unstructured":"Kato A, Fukai K, Oiso N, Hosomi N, Saitoh S, Wada T, Shimizu H, Ishii M (2003) A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). J Dermatol Sci 31:189\u2013192","journal-title":"J Dermatol Sci"},{"key":"167_CR9","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1159\/000084758","volume":"210","author":"M Kawai","year":"2005","unstructured":"Kawai M, Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y (2005) A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. Dermatology 210:322\u2013323","journal-title":"Dermatology"},{"key":"167_CR10","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1111\/j.1469-1809.2006.00341.x","volume":"71","author":"O Lao","year":"2007","unstructured":"Lao O, de Gruijter JM, van Duijn K, Navarro A, Kayser M (2007) Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Ann Hum Genet 71:354\u2013369","journal-title":"Ann Hum Genet"},{"key":"167_CR11","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1056\/NEJM199402243300803","volume":"330","author":"S-T Lee","year":"1994","unstructured":"Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA (1994) Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader\u2013Willi syndrome plus albinism. N Engl J Med 330:529\u2013534","journal-title":"N Engl J Med"},{"key":"167_CR12","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1016\/0888-7543(95)80220-G","volume":"26","author":"S-T Lee","year":"1995","unstructured":"Lee S-T, Nicholls RD, Jong MTC, Fukai K, Spritz AS (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354\u2013363","journal-title":"Genomics"},{"key":"167_CR13","doi-asserted-by":"publisher","first-page":"R176","DOI":"10.1093\/hmg\/ddl217","volume":"15","author":"B McEvoy","year":"2006","unstructured":"McEvoy B, Beleza S, Shriver MD (2006) The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model. Hum Mol Genet 15:R176\u2013R181","journal-title":"Hum Mol Genet"},{"key":"167_CR14","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1007\/s00439-006-0256-4","volume":"120","author":"S Myles","year":"2007","unstructured":"Myles S, Somel M, Tang K, Kelso J, Stoneking M (2007) Identifying genes underlying skin pigmentation differences among human populations. Hum Genet 120:613\u2013621","journal-title":"Hum Genet"},{"key":"167_CR15","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/S0923-1811(98)00059-0","volume":"19","author":"T Nagano","year":"1999","unstructured":"Nagano T, Ueda M, Suzuki T, Naruse K, Nakamura T, Taguchi M, Araki K, Nakagawa K, Nagai H, Hayashi K, Watanabe S, Ichihashi M (1999) Skin cancer screening in Okinawa, Japan. J Dermatol Sci 19:161\u2013165","journal-title":"J Dermatol Sci"},{"key":"167_CR16","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/S0923-1811(97)00602-6","volume":"15","author":"K Naruse","year":"1997","unstructured":"Naruse K, Ueda M, Nagano T, Suzuki T, Harada S, Imaizumi K, Watanabe S, Ichihashi M (1997) Prevalence of actinic keratosis in Japan. J Dermatol Sci 15:183\u2013187","journal-title":"J Dermatol Sci"},{"key":"167_CR17","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1093\/molbev\/msl203","volume":"24","author":"HL Norton","year":"2007","unstructured":"Norton HL, Kittles RA, Parra E, McKeigue P, Mao X, Cheng K, Canfield VA, Bradley DG, McEvoy B, Shriver MD (2007) Genetic evidence for the convergent evolution of light skin in Europeans and East asians. Mol Biol Evol 24:710\u2013722","journal-title":"Mol Biol Evol"},{"key":"167_CR18","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1002\/humu.9318","volume":"25","author":"WS Oetting","year":"2005","unstructured":"Oetting WS, Garrett SS, Brott M, King RA (2005) P genemutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat 25:323","journal-title":"Hum Mutat"},{"key":"167_CR19","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1046\/j.1523-1747.2000.00108.x","volume":"115","author":"N Puri","year":"2000","unstructured":"Puri N, Gardner JM, Brilliant MH (2000) Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol 115:607\u2013613","journal-title":"J Invest Dermatol"},{"key":"167_CR20","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1136\/jmg.37.5.392","volume":"37","author":"S Saitoh","year":"2000","unstructured":"Saitoh S, Oiso N, Wada T, Narazaki O, Fukai K (2000) Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. J Med Genet 37:392\u2013394","journal-title":"J Med Genet"},{"key":"167_CR21","first-page":"87","volume-title":"Brown melanoderma. Biology and disease of epidermal pigmentation","author":"Y Satoh","year":"1986","unstructured":"Satoh Y, Kawada A (1986) Action spectrum for melanin pigmentation to ultraviolet light, and Japanese skin typing. In: Fitzpatrick TB et al. (eds) Brown melanoderma. Biology and disease of epidermal pigmentation. University of Tokyo Press, Tokyo, pp 87\u201395"},{"key":"167_CR22","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1016\/j.tig.2006.06.010","volume":"22","author":"RA Sturm","year":"2006","unstructured":"Sturm RA (2006) A golden age of human pigmentation genetics. Trends Genet 22:464\u2013468","journal-title":"Trends Genet"},{"key":"167_CR23","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1046\/j.1523-1747.2003.12127.x","volume":"120","author":"T Suzuki","year":"2003","unstructured":"Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, Ishikawa O, Ishikawa T, Terao H, Tomita Y (2003a) Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. J Invest Dermatol 120:781\u2013783","journal-title":"J Invest Dermatol"},{"key":"167_CR24","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1002\/ajmg.a.20044","volume":"118A","author":"T Suzuki","year":"2003","unstructured":"Suzuki T, Miyamura Y, Tomita Y (2003b) High frequency of the Ala481Thr mutation of the P gene in the Japanese population. Am J Med Genet 118A:402\u2013403","journal-title":"Am J Med Genet"},{"key":"167_CR25","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1111\/1523-1747.ep12285621","volume":"108","author":"EV Sviderskaya","year":"1997","unstructured":"Sviderskaya EV, Bennett DC, Ho L, Bailin T, Lee ST, Spritsz RA (1997) Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. J Invest Dermatol 108:30\u201334","journal-title":"J Invest Dermatol"},{"key":"167_CR26","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1007\/s004390050306","volume":"99","author":"G Watanabe","year":"1997","unstructured":"Watanabe G, Umetsu K, Yuasa I, Suzuki T (1997) Amplified product length polymorphism (APLP): a novel strategy for genotyping the ABO blood group. Hum Genet 99:34\u201337","journal-title":"Hum Genet"},{"key":"167_CR27","doi-asserted-by":"publisher","first-page":"2431","DOI":"10.1534\/genetics.105.054270","volume":"172","author":"Y Xue","year":"2006","unstructured":"Xue Y, Zerjal T, Bao W, Zhu S, Shu Q, Xu J, Du R, Fu S, Li P, Hurles ME, Yang H, Tyler-Smith C (2006) Male demography in East Asia: a north\u2013south contrast in human population expansion times. Genetics 172:2431\u20132439","journal-title":"Genetics"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200797.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200797","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200797.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:36:21Z","timestamp":1638387381000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200797"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,14]]},"references-count":27,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2007,8]]}},"alternative-id":["167"],"URL":"https:\/\/doi.org\/10.1007\/s10038-007-0167-9","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,14]]}}}