{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T18:41:01Z","timestamp":1774291261909,"version":"3.50.1"},"reference-count":86,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,2,17]],"date-time":"2014-02-17T00:00:00Z","timestamp":1392595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mutations within the <jats:italic><jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic> gene or the complete absence of the <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2 protein leads to oculocutaneous albinism type 2. The <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2 protein plays a central role in melanosome biogenesis, and it is a strong determinant of the eumelanin content in melanocytes. Transcript levels of the <jats:italic><jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic> gene are strongly correlated with pigmentation intensities. Recent studies demonstrated that the transcriptional level of <jats:italic><jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic> is to a large extent determined by the noncoding <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> rs12913832 located 21.5\u00a0kb upstream of the <jats:italic><jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic> gene promoter. In this review, we discuss current hypotheses and the available data on the mechanism of <jats:italic><jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>2<\/jats:italic> transcriptional regulation and how this is influenced by genetic variation. Finally, we will explore how future epigenetic studies can be used to advance our insight into the functional biology that connects genetic variation to human pigmentation.<\/jats:p>","DOI":"10.1111\/pcmr.12210","type":"journal-article","created":{"date-parts":[[2014,1,4]],"date-time":"2014-01-04T14:24:41Z","timestamp":1388845481000},"page":"169-177","source":"Crossref","is-referenced-by-count":37,"title":["Genetic variation in regulatory <scp>DNA<\/scp> elements: the case of <i><scp>OCA<\/scp>2<\/i> transcriptional regulation"],"prefix":"10.1111","volume":"27","author":[{"given":"Mijke","family":"Visser","sequence":"first","affiliation":[{"name":"Department of Forensic Molecular Biology Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manfred","family":"Kayser","sequence":"additional","affiliation":[{"name":"Department of Forensic Molecular Biology Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Grosveld","sequence":"additional","affiliation":[{"name":"Department of Cell Biology Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert\u2010Jan","family":"Palstra","sequence":"additional","affiliation":[{"name":"Department of Forensic Molecular Biology Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,2,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0910668107"},{"key":"e_1_2_8_3_1","doi-asserted-by":"crossref","unstructured":"Akahoshi K. 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