OMIA 000662-9940 : Motor neuron disease, lower in Ovis aries

In other species: dog , horse , pig

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Molecular basis: Genome-wide homozygosity mapping in a family in which this disorder was segregating led to Zhao et al. (2012) discovering the causal mutation as a "missense mutation c.2909G>C on exon 21 of AGTPBP1" which results in "an Arg to Pro substitution (p.Arg970Pro) at amino acid 970, which is a conserved residue for the catalytic activity of AGTPBP1". The authors also report that "The ATP/GTP-binding protein 1 gene (Agtpbp1) has been shown to be related to Purkinje cell degeneration (pcd) phenotypes including ataxia in mice."

Breed: Romney Marsh.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
AGTPBP1 ATP/GTP binding protein 1 Ovis aries 2 NC_019459.2 (33801080..33992817) AGTPBP1 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
Romney Marsh Motor neuron disease, lower AGTPBP1 missense c.2909G>C p.R970P 2012 22588130

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.
2012 Zhao, X., Onteru, S.K., Dittmer, K.E., Parton, K., Blair, H.T., Rothschild, M.F., Garrick, D.J. :
A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease. Heredity (Edinb) 109:156-62, 2012. Pubmed reference: 22588130. DOI: 10.1038/hdy.2012.23.
Zhao, X., Onteru, S.K., Dittmer, K., Parton, K., Blair, H., Rothschild, M.F., Garrick, D.J. :
A Heritable AGTPBP1 Missense Mutation is Responsible for a Lower Motor Neuron Disease in Romney Sheep Plant & Animal Genome (PAG) XX :Abstract P0587, 2012.

Edit History


  • Created by Frank Nicholas on 19 Jan 2012
  • Changed by Frank Nicholas on 21 Mar 2012