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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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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.

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
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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.

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  • Created by Frank Nicholas on 29 Jun 2012