ArticlePloS one2013
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 46 citations in OpenAlex.
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- Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.PLoS genetics · 2023Article
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- The Effects ofGenes · 2022Article
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- Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant.Journal of veterinary internal medicine · 2021Article
- Disorder predispositions and protections of Labrador Retrievers in the UK.Scientific reports · 2021Article
- Short and sweet: foreleg abnormalities in Havanese and the role of the FGF4 retrogene.Canine medicine and genetics · 2020Article
- Current Understanding of the Genetics of Intervertebral Disc Degeneration.Frontiers in veterinary science · 2020Review
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- Genome-wide association studies and genetic testing: understanding the science, success, and future of a rapidly developing field.Journal of the American Veterinary Medical Association · 2019Review
- Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog.PloS one · 2019Article
- Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.PLoS genetics · 2018Article
- Collagen XI mutation lowers susceptibility to load-induced cartilage damage in mice.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2018Article
- Article
- A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (G3 (Bethesda, Md.) · 2017Article
- Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations.Journal of veterinary internal medicine · 2017Article
- Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.G3 (Bethesda, Md.) · 2016Article
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA) and collagen alpha-2(XI) chain gene (COL11A2), respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.
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