OMIA:001467-9615 : Neuropathy, sensory ataxic in Canis lupus familiaris
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 590100 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Mitochondrial
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 or MTTY).
Breed: Golden Retriever.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MTTY||TRANSFER RNA, MITOCHONDRIAL, TYROSINE||Canis lupus familiaris||-||no genomic information (-..-)||MTTY||Ensembl|
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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|
|1524||Golden Retriever||Neuropathy, sensory ataxic||MTTY||deletion, small (<=20)||Naturally occurring variant||M||m.5304del||2009||19492087|
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.
|2022||Tkaczyk-Wlizło, A., Kowal, K., Ślaska, B. :|
|Mitochondrial DNA alterations in the domestic dog (Canis lupus familiaris) and their association with development of diseases: A review. Mitochondrion 63:72-84, 2022. Pubmed reference: 35134592 . DOI: 10.1016/j.mito.2022.02.001.|
|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 .|
- Created by Frank Nicholas on 16 Jun 2009
- Changed by Frank Nicholas on 29 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Imke Tammen2 on 26 Sep 2021
- Changed by Imke Tammen2 on 19 Mar 2022
- Changed by Imke Tammen2 on 16 Jan 2023