A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease.

Heredity
X ZhaoD J Garrick

Abstract

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 inheritanc...Continue Reading

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Citations

Oct 29, 2014·American Journal of Medical Genetics. Part a·Miroslava HancarovaZdenek Sedlacek
Jun 25, 2015·Journal of Central Nervous System Disease·Shouta KitanoJun-Ichi Satoh
May 19, 2019·American Journal of Medical Genetics. Part a·Mert KarakayaBrunhilde Wirth
Nov 14, 2018·The EMBO Journal·Vandana ShashiJan Senderek
Nov 25, 2014·The Journal of Biological Chemistry·Hui-Yuan WuJames I Morgan
Mar 4, 2017·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Andrea TalentiUNKNOWN Italian Goat Consortium
Apr 15, 2020·Functional & Integrative Genomics·Maria Malane Magalhães MunizLucia Galvão de Albuquerque
Oct 24, 2020·Biochemical and Biophysical Research Communications·Ruixue WangHui-Yuan Wu

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