ArticleProceedings of the National Academy of Sciences of the United States of America2007
A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 53 citations in OpenAlex.
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- Neurofilament light chain (Nf-L) in cerebrospinal fluid and serum as a potential biomarker in the differential diagnosis of neurological diseases in cattle.Veterinary research · 2025Article
- Unravelling transmission ratio distortion across the bovine genome: identification of candidate regions for reproduction defects.BMC genomics · 2023Article
- Involvement of Lipids in the Pathogenesis of Amyotrophic Lateral Sclerosis.Life (Basel, Switzerland) · 2023Review
- Mysterious sphingolipids: metabolic interrelationships at the center of pathophysiology.Frontiers in physiology · 2023Review
- The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases.Journal of personalized medicine · 2022Review
- 3-Ketodihydrosphingosine reductase maintains ER homeostasis and unfolded protein response in leukemia.Leukemia · 2022Article
- Small RNA profiling reveals the involvement of microRNA-mediated gene regulation in response to symbiosis in raspberry.Frontiers in microbiology · 2022Article
- Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success.Genetics, selection, evolution : GSE · 2021Article
- Spinal Muscular Atrophy in Blonde D'Aquitaine Calves Is Not Associated With FVT1 Gene Mutation.Frontiers in veterinary science · 2020Article
- Management of lethal recessive alleles in beef cattle through the use of mate selection software.Genetics, selection, evolution : GSE · 2019Article
- Approaches for probing and evaluating mammalian sphingolipid metabolism.Analytical biochemistry · 2019Review
- The role of dihydrosphingolipids in disease.Cellular and molecular life sciences : CMLS · 2019Review
- Screening genetic diseases prevalence in Braunvieh cattle.Tropical animal health and production · 2019Article
- Sphingolipid biosynthesis in man and microbes.Natural product reports · 2018Review
- Sphingolipids regulate neuromuscular synapse structure and function in Drosophila.The Journal of comparative neurology · 2018Article
- Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.The Journal of investigative dermatology · 2017Article
- Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.Frontiers in molecular neuroscience · 2017Review
- A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle.BMC genomics · 2016Article
- Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle.Genetics, selection, evolution : GSE · 2016Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The bovine form of the autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) shows striking similarity to the human form of the disease. It has, however, been mapped to a genomic region not harboring the bovine orthologue of the SMN gene, mutation of which causes human SMA. After refinement of the mapping results we analyzed positional and functional candidate genes. One of three candidate genes, FVT1, encoding 3-ketodihydrosphingosine reductase, which catalyzes a crucial step in the glycosphingolipid metabolism, showed a G-to-A missense mutation that changes Ala-175 to Thr. The identified mutation is limited to SMA-affected animals and carriers and always appears in context of the founder haplotype. The Ala variant found in healthy animals showed the expected 3-ketodihydrosphingosine reductase activity in an in vitro enzyme assay. Importantly, the Thr variant found in SMA animals showed no detectable activity. Surprisingly, in an in vivo assay the mutated gene complements the growth defect of a homologous yeast knockout strain as well as the healthy variant. This finding explains the viability of affected newborn calves and the later neuron-specific onset of the disease, which might be due to the high sensitivity of these neurons to changes in housekeeping functions. Taken together, the described mutation in FVT1 is a strong candidate for causality of SMA in cattle. This result provides an animal model for understanding the underlying mechanisms of the development of SMA and will allow efficient selection against the disease in cattle.
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