{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T17:26:07Z","timestamp":1784827567527,"version":"3.55.0"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"25","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1994,12,6]]},"abstract":"<jats:p>The pink-eyed dilution (p) locus in the mouse is critical to melanogenesis; mutations in the homologous locus in humans, P, are a cause of type II oculocutaneous albinism. Although a cDNA encoded by the p gene has recently been identified, nothing is known about the protein product of this gene. To characterize the protein encoded by the p gene, we performed immunoblot analysis of extracts of melanocytes cultured from wild-type mice with an antiserum from rabbits immunized with a peptide corresponding to amino acids 285-298 of the predicted protein product of the murine p gene. This antiserum recognized a 110-kDa protein. The protein was absent from extracts of melanocytes cultured from mice with two mutations (pcp and p) in which transcripts of the p gene are absent or greatly reduced. Introduction of the cDNA for the p gene into pcp melanocytes by electroporation resulted in expression of the 3.3-kb mRNA and the 110-kDa protein. Upon subcellular fractionation of cultured melanocytes, the 110-kDa protein was found to be present in melanosomes but absent from the vesicular fraction; phase separation performed with the nonionic detergent Triton X-114 confirmed the predicted hydrophobic nature of the protein. These results demonstrate that the p gene encodes a 110-kDa integral melanosomal membrane protein and establish a framework by which mutations at this locus, which diminish pigmentation, can be analyzed at the cellular and biochemical levels.<\/jats:p>","DOI":"10.1073\/pnas.91.25.12071","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T09:01:32Z","timestamp":1149066092000},"page":"12071-12075","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":119,"title":["Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene."],"prefix":"10.1073","volume":"91","author":[{"given":"S","family":"Rosemblat","sequence":"first","affiliation":[{"name":"Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York 10016."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Durham-Pierre","sequence":"additional","affiliation":[{"name":"Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York 10016."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M","family":"Gardner","sequence":"additional","affiliation":[{"name":"Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York 10016."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Nakatsu","sequence":"additional","affiliation":[{"name":"Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York 10016."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M H","family":"Brilliant","sequence":"additional","affiliation":[{"name":"Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York 10016."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S J","family":"Orlow","sequence":"additional","affiliation":[{"name":"Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York 10016."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1994,12,6]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.91.25.12071","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T14:09:53Z","timestamp":1649858993000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.91.25.12071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,12,6]]},"references-count":0,"journal-issue":{"issue":"25","published-print":{"date-parts":[[1994,12,6]]}},"alternative-id":["10.1073\/pnas.91.25.12071"],"URL":"https:\/\/doi.org\/10.1073\/pnas.91.25.12071","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,12,6]]},"assertion":[{"value":"1994-12-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}