ArticlePLoS genetics2009
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta.
Article in PLoS genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed, 129 citations in OpenAlex.
- Improving the diffraction quality of heat-shock protein 47 crystals.Acta crystallographica. Section F, Structural biology communications · 2024Article
- The Association between the Abundance of Homozygous Deleterious Variants and the Morbidity of Dog Breeds.Biology · 2024Article
- Dentinogenesis imperfecta in a 6-year-old male neutered Labrador retriever: Case report with atypical clinical presentation and treatment review.Frontiers in veterinary science · 2024Article
- Severe osteogenesis imperfecta caused byJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2022Article
- The Thermal Stability of the Collagen Triple Helix Is Tuned According to the Environmental Temperature.International journal of molecular sciences · 2022Article
- Collagen's primary structure determines collagen:HSP47 complex stoichiometry.The Journal of biological chemistry · 2021Article
- Article
- A De Novo Mutation inAnimals : an open access journal from MDPI · 2021Article
- Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.PLoS genetics · 2021Article
- SERPINH1 is a Potential Prognostic Biomarker and Correlated With Immune Infiltration: A Pan-Cancer Analysis.Frontiers in genetics · 2021Article
- Osteogenesis Imperfecta in Two Finnish Lapphund Puppies.Veterinary medicine (Auckland, N.Z.) · 2021Article
- Collagen Biosynthesis, Processing, and Maturation in Lung Ageing.Frontiers in medicine · 2021Review
- Osteogenesis imperfecta in a male holstein calf associated with a possible oligogenic origin.The veterinary quarterly · 2020Article
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- Lowering the culture temperature corrects collagen abnormalities caused by HSP47 gene knockout.Scientific reports · 2019Article
- Roles of the endoplasmic reticulum-resident, collagen-specific molecular chaperone Hsp47 in vertebrate cells and human disease.The Journal of biological chemistry · 2019Review
- Krogh's principle for musculoskeletal physiology and pathology.Journal of musculoskeletal & neuronal interactions · 2018Article
- The endoplasmic reticulum-resident collagen chaperone Hsp47 interacts with and promotes the secretion of decorin, fibromodulin, and lumican.The Journal of biological chemistry · 2018Article
- A Missense Mutation in the Vacuolar Protein Sorting 11 (G3 (Bethesda, Md.) · 2018Article
- Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I. Recently, mutations in the CRTAP and LEPRE1 genes were found to cause some rare forms of human OI. Many OI cases exist where the causative mutation has not yet been found. We investigated Dachshunds with an autosomal recessive form of OI. Genotyping only five affected dogs on the 50 k canine SNP chip allowed us to localize the causative mutation to a 5.82 Mb interval on chromosome 21 by homozygosity mapping. Haplotype analysis of five additional carriers narrowed the interval further down to 4.74 Mb. The SERPINH1 gene is located within this interval and encodes an essential chaperone involved in the correct folding of the collagen triple helix. Therefore, we considered SERPINH1 a positional and functional candidate gene and performed mutation analysis in affected and control Dachshunds. A missense mutation (c.977C>T, p.L326P) located in an evolutionary conserved domain was perfectly associated with the OI phenotype. We thus have identified a candidate causative mutation for OI in Dachshunds and identified a fifth OI gene.
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Registered trials
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