Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene

Susana Rosemblat, Donna Durham-Pierre, John M. Gardner, Yoshimichi Nakatsu, Murray H. Brilliant, Seth J. Orlow

研究成果: ジャーナルへの寄稿学術誌査読

134 被引用数 (Scopus)


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 (p(cp) and p) in which transcripts of the p gene are absent or greatly reduced. Introduction of the cDNA for the p gene into p(cp) 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.

ジャーナルProceedings of the National Academy of Sciences of the United States of America
出版ステータス出版済み - 12月 6 1994

!!!All Science Journal Classification (ASJC) codes

  • 一般


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