OMIA 001695-8090 : Reduced scale-3 in Oryzias latipes |
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"
Associated gene:
| 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 |
Variants
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reduced scale-3 | edar | insertion, gross (>20) | "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 |
Reference
| 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. |
Edit History
- Created by Frank Nicholas on 29 Jun 2012