ArticleHeredity2012
A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease.
Article in Heredity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 37 citations in OpenAlex.
- Epidemiological landscape and genetic prospects for marker-assisted selection in Kazakh sheep.Frontiers in veterinary science · 2025Review
- The distinct initiation sites and processing activities of TTLL4 and TTLL7 in glutamylation of brain tubulin.The Journal of biological chemistry · 2023Article
- CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis.BMC biology · 2023Article
- TTLL1 and TTLL4 polyglutamylases are required for the neurodegenerative phenotypes in pcd mice.PLoS genetics · 2022Article
- The Childhood-Onset Neurodegeneration with Cerebellar Atrophy (CONDCA) Disease Caused byBiomedicines · 2021Review
- A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?Neurogenetics · 2021Review
- Use of gene expression profile to identify potentially relevant transcripts to myofibrillar fragmentation index trait.Functional & integrative genomics · 2020Article
- Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.The EMBO journal · 2018Article
- Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.Scientific reports · 2018Article
- An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Scientific reports · 2017Article
- The Valdostana goat: a genome-wide investigation of the distinctiveness of its selective sweep regions.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Article
- Multiple genomic signatures of selection in goats and sheep indigenous to a hot arid environment.Heredity · 2016Article
- Comparison of the enzymatic and functional properties of three cytosolic carboxypeptidase family members.The Journal of biological chemistry · 2015Article
- Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.Journal of central nervous system disease · 2015Article
- Microtubule defects & Neurodegeneration.Journal of genetic syndromes & gene therapy · 2013Article
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Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.