ArticleProceedings of the National Academy of Sciences of the United States of America2016
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 51 citations in OpenAlex.
- Pathology of general proprioception in a canine disease model of amyotrophic lateral sclerosis.Journal of the neurological sciences · 2026Article
- Diagnosis of degenerative myelopathy in a Boston terrier-French bulldog mixed breed.The Journal of small animal practice · 2026Article
- Species-specific alternative splicing of SP110 drives tuberculosis susceptibility in cattle.Veterinary research · 2025Article
- Genotypic and Allelic Frequencies of Degenerative Myelopathy in an Italian Canine Population.Animals : an open access journal from MDPI · 2024Article
- Common Neurologic Diseases in Geriatric Dogs.Animals : an open access journal from MDPI · 2024Review
- GWAS using low-pass whole genome sequence reveals a novel locus in canine congenital idiopathic megaesophagus.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics.Human genetics · 2023Review
- Molecular Surveillance of Canine Degenerative Myelopathy in Breeding Kennels from Romania.Animals : an open access journal from MDPI · 2023Article
- Article
- Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate.Animals : an open access journal from MDPI · 2022Article
- The integrated stress response mediates necrosis in murine Mycobacterium tuberculosis granulomas.The Journal of clinical investigation · 2021Article
- A Leaky Noisy-OR Bayesian Network Applied to Genetic Counseling in Dogs.Animals : an open access journal from MDPI · 2020Article
- Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs.BMC genomics · 2020Article
- Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency.Case reports in pediatrics · 2020Article
- Article
- Optic nerve hypoplasia in miniature poodle dogs: A preliminary genetic and candidate gene association study.Veterinary ophthalmology · 2020Article
- Plasma microRNA miR-26b as a potential diagnostic biomarker of degenerative myelopathy in Pembroke welsh corgis.BMC veterinary research · 2019Article
- Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.Human genetics · 2019Article
- Canine Cognitive Dysfunction and Alzheimer's Disease - Two Facets of the Same Disease?Frontiers in neuroscience · 2019Review
- The Dog Model in the Spotlight: Legacy of a Trustful Cooperation.Journal of neuromuscular diseases · 2019Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Canine degenerative myelopathy (DM) is a naturally occurring neurodegenerative disease with similarities to some forms of amyotrophic lateral sclerosis (ALS). Most dogs that develop DM are homozygous for a common superoxide dismutase 1 gene (SOD1) mutation. However, not all dogs homozygous for this mutation develop disease. We performed a genome-wide association analysis in the Pembroke Welsh Corgi (PWC) breed comparing DM-affected and -unaffected dogs homozygous for the SOD1 mutation. The analysis revealed a modifier locus on canine chromosome 25. A haplotype within the SP110 nuclear body protein (SP110) was present in 40% of affected compared with 4% of unaffected dogs (P = 1.5 × 10(-5)), and was associated with increased probability of developing DM (P = 4.8 × 10(-6)) and earlier onset of disease (P = 1.7 × 10(-5)). SP110 is a nuclear body protein involved in the regulation of gene transcription. Our findings suggest that variations in SP110-mediated gene transcription may underlie, at least in part, the variability in risk for developing DM among PWCs that are homozygous for the disease-related SOD1 mutation. Further studies are warranted to clarify the effect of this modifier across dog breeds.
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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.