GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002287
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
Molecular Details of the Mutation
Promoter complex change resulting in loss of expression : an inversion of 167 bp ; an insertion of 48 bp ; and a deletion of 172 bp
Experimental Evidence
Authors
Fukamachi S; Kinoshita M; Tsujimura T; Shimada A; Oda S; Shima A; Meyer A; Kawamura S; et al. ... show more
Abstract
Patients and vertebrate mutants with oculocutaneous albinism type 4 (OCA4) have mutations in the solute carrier family 45 member 2 (slc45a2) gene. However, there is no empirical evidence for this gene-phenotype relationship. There is a unique OCA4 mutant in medaka (b) that exhibits albinism only in the skin, but the mechanism underlying this phenotype is also unknown. In this study, we rescued medaka OCA4 phenotypes, in both the eyes and the skin, by micro-injection of an slc45a2-containing genomic fragment or slc45a2 cDNA driven by its own 0.9-kb promoter. We also identified a spontaneous nucleotide change of 339 bp in the promoter as the b mutation. There are multiple transcription start sites in medaka slc45a2, as in its human ortholog, and only the shortest and eye-specific mRNA is transcribed with the b mutation. Interestingly, we further revealed a conserved pyrimidine (Py)-rich sequence of approximately 10 bp in the promoter by medaka-pufferfish comparative genomics and verified that it plays an indispensable role for expression of slc45a2 in the skin. Further studies of the 0.9-kb promoter identified in this study should provide insights into the cis/trans-regulatory mechanisms underlying the ocular and cutaneous expression of slc45a2.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
1
EXTERNAL LINKS
COMMENTS
@Parallelism https://omia.org/OMIA001821/8090/ @AllelicSeries
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