Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Title: Data from: A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease      
type:
Article
description:
A type of lower motor neuron (LMN) disease inherited as autosomal recessive in Romney sheep was characterized with normal appearance at birth, but with progressive weakness and tetraparesis after the first week of life. Here, we carried out genome-wide homozygosity mapping using Illumina Ovine SNP50 BeadChips on lambs descended from one carrier ram, including 19 sheep diagnosed as affected and 11 of their parents that were therefore known carriers. A homozygous region of 136 consecutive single-nucleotide polymorphism (SNP) loci on chromosome 2 was common to all affected sheep and it was the basis for searching for the positional candidate genes. Other homozygous regions shared by all affected sheep spanned eight or fewer SNP loci. The 136-SNP region contained the sheep ATP/GTP-binding protein 1 (AGTPBP1) gene. Mutations in this gene have been shown to be related to Purkinje cell degeneration (pcd) phenotypes including ataxia in mice. One missense mutation c.2909G>C on exon 21 of AGTPBP1 was discovered, which induces an Arg to Pro substitution (p.Arg970Pro) at amino-acid 970, a conserved residue for the catalytic activity of AGTPBP1. Genotyping of this mutation showed 100% concordant rate with the recessive pattern of inheritance in affected, carrier, phenotypically normal and unrelated normal individuals. This is the first report showing a mutant AGTPBP1 is associated with a LMN disease in a large mammal animal model. Our finding raises the possibility of human patients with the same etiology caused by this gene or other genes in the same pathway of neuronal development.
ID:
oai:datadryad.org:10255/dryad.38513
accesstypes:
download
landingPage: http://hdl.handle.net/10255/dryad.38513
authentication:
none
authorization:
none
ID:
doi:10.5061/dryad.8fp2pc88
Garrick DJ, Zhao X, Onteru SK, Dittmer KE, Parton K, Blair HT, Rothschild MF (2012) A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease. Heredity 109(3): 156–162.
http://hdl.handle.net/10255/dryad.38513
heredity-HDY-11-OR0434R
setID:
hdl_10255_3
recNum:
1
setName:
Main
dateReleased:
05-07-2013
issueDate:
20120516
accessionDate:
03-15-2012
dateCreated:
03-15-2012
abbreviation:
Dryad
ID:
SCR:005910
name:
Dryad Digital Repository
homepage: http://www.datadryad.org
ID:
SCR:005910
name:
Dryad Data Repository

Feedback?

If you are having problems using our tools, or if you would just like to send us some feedback, please post your questions on GitHub.