OMIA:001695-8090 : Reduced scale-3 in Oryzias latipes
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 129490 (trait) , 224900 (trait) , 604095 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2001
Species-specific symbol: rs-3
Species-specific description: Fish with this phenotype are almost scaleless. The few scales that do exist "are larger in size and irregular in shape" (Kondo et al., 2001)
Mapping: Kondo et al. (2001) mapped this trait to medaka linkage group LG21, and then used knowledge of conserved synteny with zebrafish and humans to identify 14 potential positional candidate genes, 10 of which mapped to LG21. Of these 10, the EDAR gene showed zero recombination with the trait.
Molecular basis: Kondo et al. (2001) provided strong evidence suggesting that the recessive allele is a mutant of the EDAR gene that contains "several kb of extra sequence in the 5′ UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized"
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|edar||ectodysplasin A receptor||Oryzias latipes||21||NC_019879.2 (18057139..18020379)||edar||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|724||Reduced scale-3||edar||insertion, gross (>20)||Naturally occurring variant||"several kb of extra sequence in the 5' UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized"||2001||11516953|
|2001||Kondo, S., Kuwahara, Y., Kondo, M., Naruse, K., Mitani, H., Wakamatsu, Y., Ozato, K., Asakawa, S., Shimizu, N., Shima, A. :|
|The medaka rs-3 locus required for scale development encodes ectodysplasin-A receptor. Curr Biol 11:1202-6, 2001. Pubmed reference: 11516953 . DOI: 10.1016/S0960-9822(01)00324-4.|
- Created by Frank Nicholas on 29 Jun 2012