GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002286
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
WT
Trait State in Taxon B
Melanin deficient fish (mutation maintained by breeders in Japan)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
Japanese medaka
Synonyms
Poecilia latipes; Japanese medaka; Japanese rice fish; medaka; Oryzias latipes (Temminck & Schlegel, 1846); Poecilia latipes Temminck & Schlegel, 1846; Orizias latipes
Rank
species
Lineage
Show more ... ha; Neoteleostei; Eurypterygia; Ctenosquamata; Acanthomorphata; Euacanthomorphacea; Percomorphaceae; Ovalentaria; Atherinomorphae; Beloniformes; Adrianichthyoidei; Adrianichthyidae; Oryziinae; Oryzias
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
Japanese medaka
Synonyms
Poecilia latipes; Japanese medaka; Japanese rice fish; medaka; Oryzias latipes (Temminck & Schlegel, 1846); Poecilia latipes Temminck & Schlegel, 1846; Orizias latipes
Rank
species
Lineage
Show more ... ha; Neoteleostei; Eurypterygia; Ctenosquamata; Acanthomorphata; Euacanthomorphacea; Percomorphaceae; Ovalentaria; Atherinomorphae; Beloniformes; Adrianichthyoidei; Adrianichthyidae; Oryziinae; Oryzias
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
SLC45A2
Synonyms
1A1; AIM1; MATP; OCA4; SHEP5
Sequence Similarities
Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family.
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Insertion Size
100-999 bp
Molecular Details of the Mutation
tandem insertion of 195 nt identical to the adjacent ORF sequence. This tandem repeat produces an insertion of 65 amino acids
Experimental Evidence
Authors
Fukamachi S; Shimada A; Shima A
Abstract
Pigmentation of the skin is of great social, clinical and cosmetic significance. Several genes that, when mutated, give rise to altered coat color in mice have been identified; their analysis has provided some insight into melanogenesis and human pigmentation diseases. Such analyses do not, however, fully inform on the pigmentation of lower vertebrates because mammals have only one kind of chromatophore, the melanocyte. In contrast, the medaka (a small, freshwater teleost) is a suitable model of the lower vertebrates because it has all kinds of chromatophores. The basic molecular genetics of fish are known and approximately 70 spontaneous pigmentation mutants have been isolated. One of these, an orange-red variant, is a homozygote of a well-known and common allele, b, and has been bred for hundreds of years by the Japanese. Here, we report the first successful positional cloning of a medaka gene (AIM1): one that encodes a transporter that mediates melanin synthesis. The protein is predicted to consist of 12 transmembrane domains and is 55% identical to a human EST of unknown function isolated from melanocytes and melanoma cells. We also isolated a highly homologous gene from the mouse, indicating a conserved function of vertebrate melanogenesis. Intriguingly, these proteins have sequence and structural similarities to plant sucrose transporters, suggesting a relevance of sucrose in melanin synthesis. Analysis of AIM1 orthologs should provide new insights into the regulation of melanogenesis in both teleosts and mammals.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
1
EXTERNAL LINKS
COMMENTS
@Parallelism https://omia.org/OMIA001821/8090/ @AllelicSeries ; another mutant allele called b seems to be due to cis-regulatory loss of SLC45A2 expression
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