OMIA:000662-9940 : Motor neuron disease, lower in Ovis aries (sheep)
Categories: Nervous system phene
Links to MONDO diseases: No links.
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."
Romney Marsh (Sheep) (VBO_0001582).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|AGTPBP1||ATP/GTP binding protein 1||Ovis aries||2||NC_056055.1 (33978899..34170838)||AGTPBP1||Homologene, Ensembl , NCBI gene|
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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|
|233||Romney Marsh (Sheep)||Motor neuron disease, lower||AGTPBP1||missense||Naturally occurring variant||Oar_rambouillet_v1.0||2||g.35795594G>C||c.2909G>C||p.(R970P)||protein and cDNA positions are based on XP_014948529.2 and XM_015093043.2, respectively||2012||22588130||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
Cite this entry
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., 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.|
|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.|
- Created by Frank Nicholas on 19 Jan 2012
- Changed by Frank Nicholas on 21 Mar 2012