ArticleMammalian genome : official journal of the International Mammalian Genome Society2015
Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 52 citations in OpenAlex.
- Establishing Operational Descriptive Definitions for Neurologic Abnormalities Identified During Gaiting in Dogs.Animals : an open access journal from MDPI · 2026Review
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- An intronic variant in Ferredoxin Reductase (FDXR) creates a cryptic exon in Quarter Horses with Equine Juvenile Spinocerebellar Ataxia.PLoS genetics · 2026Article
- Identification of a NovelGenes · 2025Article
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- An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.Animals : an open access journal from MDPI · 2023Review
- A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.Human genetics · 2023Article
- Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.Journal of veterinary internal medicine · 2023Article
- Cerebellar Abiotrophy in Australian Working Kelpies Is Associated with Two Major Risk Loci.Genes · 2022Article
- Mapping short tandem repeats for liver gene expression traits helps prioritize potential causal variants for complex traits in pigs.Journal of animal science and biotechnology · 2022Article
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.Genome research · 2022Review
- Article
- A worldwide map of swine short tandem repeats and their associations with evolutionary and environmental adaptations.Genetics, selection, evolution : GSE · 2021Article
- Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.PLoS genetics · 2020Article
- Arginine to Glutamine Variant in Olfactomedin Like 3 (G3 (Bethesda, Md.) · 2019Article
- Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies.Molecular vision · 2019Article
- Genetics of Hereditary Ataxia in Scottish Terriers.Journal of veterinary internal medicine · 2017Article
- Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy.Cerebellum (London, England) · 2017Article
- Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene.PloS one · 2017Article
- Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.American journal of human genetics · 2016Article
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Authors and funding
5 authors at 3 institutions in 3 countries.
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Abstract
Spinocerebellar ataxia in the Italian Spinone dog breed is characterised by a progressive gait abnormality that manifests from approximately 4 months of age. The disorder shows an autosomal recessive mode of inheritance, and affected individuals are usually euthanized by one year of age on welfare grounds due to an inability to ambulate. Using a homozygosity mapping technique with six cases and six controls, we mapped the disease locus to chromosome 20 of the canine genome. Linkage analysis across an extended pedigree confirmed the association, with microsatellite C20.374 achieving a maximal LOD score of 4.41. All five genes within the disease-associated interval were exon resequenced, although no exonic candidate mutations were identified. A targeted resequencing approach was therefore adopted to sequence the entire disease-associated interval. Analysis of the sequencing data revealed a GAA repeat expansion in intron 35 of ITPR1, which was homozygous in all cases and heterozygous in obligate carriers. Partial impairment of cerebellar ITPR1 expression in affected dogs was demonstrated by immunohistochemistry. Given the association of ITPR1 mutations with spinocerebellar ataxia (SCA) type 15 (also designated SCA16) in humans and that an intronic GAA repeat expansion has been shown to cause Friedreich ataxia, the repeat expansion is an excellent candidate for the cause of spinocerebellar ataxia in the Italian Spinone. This finding represents the first naturally occurring pathogenic intronic GAA repeat expansion in a non-human species and a novel mechanism for ITPR1 associated spinocerebellar ataxia.
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