RRC ID 11758
Author Fukamachi S, Asakawa S, Wakamatsu Y, Shimizu N, Mitani H, Shima A.
Title Conserved function of medaka pink-eyed dilution in melanin synthesis and its divergent transcriptional regulation in gonads among vertebrates.
Journal Genetics
Abstract 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 approximately 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.
Volume 168(3)
Pages 1519-27
Published 2004-11
DOI 10.1534/genetics.104.030494
PII 168/3/1519
PMID 15579703
PMC PMC1448775
MeSH Amino Acid Sequence Animals Base Sequence Chromosome Walking Expressed Sequence Tags Female Fish Proteins / genetics* Fish Proteins / metabolism Gene Expression Regulation / physiology* Genetic Markers Melanins / biosynthesis* Melanins / genetics Mice Molecular Sequence Data Mutation Oryzias / embryology Oryzias / genetics* Oryzias / metabolism Ovary / metabolism* Sequence Analysis, DNA
IF 4.075
Times Cited 24
WOS Category GENETICS & HEREDITY
Resource
Medaka i-3 i (i-1) (MT67) b g8 HdrR-II1(IB178)