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

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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