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Genetics, Vol. 168, 1519-1527, November 2004, Copyright © 2004
doi:10.1534/genetics.104.030494
Conserved Function of Medaka pink-eyed dilution in Melanin Synthesis and Its Divergent Transcriptional Regulation in Gonads Among Vertebrates
Shoji Fukamachi*,1,
Shuichi Asakawa
,
Yuko Wakamatsu
,
Nobuyoshi Shimizu,
Hiroshi Mitani* and
Akihiro Shima*
* Department of Integrated Biosciences, Graduate School of Frontier Sciences, University of Tokyo, Kashiwa-no-ha, Kashiwa-shi, Chiba 277-8562, Japan
Department of Molecular Biology, Keio University School of Medicine, Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
Laboratory of Freshwater Fish Stocks, Bioscience and Biotechnology Center, Nagoya University, Furo-cho, Chikusa-ku, Nagoya 464-8601, Japan
1 Corresponding author: Kashiwa-no-ha 5-1-5, Kashiwa-shi, Chiba 277-8562, Japan.
E-mail: fukasho{at}k.u-tokyo.ac.jp
Medaka is emerging as a model organism for the study of vertebrate development and genetics, and its effectiveness in forward genetics should prove equal to that of zebrafish. Here, we identify by positional cloning a gene responsible for the medaka i-3 albino mutant. i-3 larvae have weakly tyrosinase-positive cells but lack strongly positive and dendritic cells, suggesting loss of fully differentiated melanophores. The region surrounding the i-3 locus is syntenic to human 19p13, but a BAC clone covering the i-3 locus contained orthologs located at 15q11–13, including OCA2 (P). Medaka P consists of 842 amino acids and shares 
65% identity with mammalian P proteins. The i-3 mutation is a four-base deletion in exon 13, which causes a frameshift and truncation of the protein. We detected medaka P transcripts in melanin-producing eyeballs and (putative) skin melanophores on embryos and an alternatively spliced form in the non-melanin-producing ovary or oocytes. The mouse p is similarly expressed in gonads, but not alternatively spliced. This is the first isolation of nonmammalian P, the functional mechanism of action of which has not yet been elucidated, even in mammals. Further investigation of the functions of P proteins and the regulation of their expression will provide new insight into body color determination and gene evolution.
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