OMIA 001467-9615 : Neuropathy, sensory ataxic in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
613561
Mendelian trait/disorder:
yes
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2009
Species-specific symbol:
SAN
Inheritance:
This disorder showed maternal transmission: all affected dogs in a pedigree traced back to a single female, which is consistent with mitochondrial inheritance.
Molecular basis:
Baranowska et al. (2009) showed that this disorder is due to a deletion of a single base (at position 5304) in the mitochondrial gene for transfer RNA for the amino acid tyrosine (called tRNA-Tyr).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| tRNA-Tyr | tRNA | Canis lupus lupus | MT | NC_009686.1 (5348..5281) | tRNA-Tyr | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Golden Retriever | Neuropathy, sensory ataxic | tRNA-Tyr | deletion, small (<=20) | A deletion of a single base (at position 5304) in the mitochondrial gene for transfer RNA for the amino acid tyrosine (called tRNA-Tyr) | 2009 | 19492087 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2009 | Baranowska, I., Jäderlund, K.H., Nennesmo, I., Holmqvist, E., Heidrich, N., Larsson, N.G., Andersson, G., Wagner, E.G., Hedhammar, A., Wibom, R., Andersson, L. : | |
| Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene. PLoS Genet 5:e1000499, 2009. Pubmed reference: 19492087. DOI: 10.1371/journal.pgen.1000499. | ||
| 2007 | Jäderlund, K.H., Orvind, E., Johnsson, E., Matiasek, K., Hahn, C.N., Malm, S., Hedhammar, A. : | |
| A neurologic syndrome in Golden Retrievers presenting as a sensory ataxic neuropathy. J Vet Intern Med 21:1307-15, 2007. Pubmed reference: 18196741. |
Edit History
- Created by Frank Nicholas on 16 Jun 2009
- Changed by Frank Nicholas on 29 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011