ArticleMammalian genome : official journal of the International Mammalian Genome Society2007
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 90 citations in OpenAlex.
- A review of genetic variation underlying chicken phenotypic diversity.Poultry science · 2025Review
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene.Genetics, selection, evolution : GSE · 2025Article
- Aggrecan governs intervertebral discs development by providing critical mechanical cues of the extracellular matrix.Frontiers in bioengineering and biotechnology · 2023Article
- Article
- Structural variant-based pangenome construction has low sensitivity to variability of haplotype-resolved bovine assemblies.Nature communications · 2022Article
- Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.Scientific reports · 2022Article
- Article
- Exceptional Changes in Skeletal Anatomy under Domestication: The Case of Brachycephaly.Integrative organismal biology (Oxford, England) · 2021Article
- Aggrecan in Cardiovascular Development and Disease.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2020Review
- Molecular basis of a new ovine model for human 3M syndrome-2.BMC genetics · 2020Article
- A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle.Acta veterinaria Scandinavica · 2020Article
- A structural UGDH variant associated with standard Munchkin cats.BMC genetics · 2020Article
- High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.European journal of endocrinology · 2020Article
- Description of the D4/D4 genotype in Miniature horses with dwarfism.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2020Article
- Spontaneous Appearance and Transmission of Polydactyly in Dexter Cattle.Case reports in veterinary medicine · 2020Article
- Insights into body size variation in cetaceans from the evolution of body-size-related genes.BMC evolutionary biology · 2019Article
- Aggrecan Hypomorphism Compromises Articular Cartilage Biomechanical Properties and Is Associated with Increased Incidence of Spontaneous Osteoarthritis.International journal of molecular sciences · 2019Article
- The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.Clinical dysmorphology · 2019Article
- A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan.BMC genetics · 2018Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bulldog dwarfism in Dexter cattle is one of the earliest single-locus disorders described in animals. Affected fetuses display extreme disproportionate dwarfism, reflecting abnormal cartilage development (chondrodysplasia). Typically, they die around the seventh month of gestation, precipitating a natural abortion. Heterozygotes show a milder form of dwarfism, most noticeably having shorter legs. Homozygosity mapping in candidate regions in a small Dexter pedigree suggested aggrecan (ACAN) as the most likely candidate gene. Mutation screening revealed a 4-bp insertion in exon 11 (2266_2267insGGCA) (called BD1 for diagnostic testing) and a second, rarer transition in exon 1 (-198C>T) (called BD2) that cosegregate with the disorder. In chondrocytes from cattle heterozygous for the insertion, mutant mRNA is subject to nonsense-mediated decay, showing only 8% of normal expression. Genotyping in Dexter families throughout the world shows a one-to-one correspondence between genotype and phenotype at this locus. The heterozygous and homozygous-affected Dexter cattle could prove invaluable as a model for human disorders caused by mutations in ACAN.
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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.