ArticleBMC genetics2016
A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle.
Article in BMC genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 32 citations in OpenAlex.
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- Massive detection of cryptic recessive genetic defects in dairy cattle mining millions of life histories.Genome biology · 2024Article
- Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle.Genetics, selection, evolution : GSE · 2023Article
- Associated regions for multiple birth in Brown Swiss and Original Braunvieh cattle on chromosomes 15 and 11.Animal genetics · 2022Article
- Genetic Diversity and Selective Signature in Dabieshan Cattle Revealed by Whole-Genome Resequencing.Biology · 2022Article
- A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities.Genetics, selection, evolution : GSE · 2022Article
- A major QTL at the LHCGR/FSHR locus for multiple birth in Holstein cattle.Genetics, selection, evolution : GSE · 2021Article
- Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population.BMC genomics · 2021Article
- Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing.Genetics · 2021Article
- Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.PLoS genetics · 2020Article
- Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data.BMC genomics · 2020Article
- A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle.BMC genomics · 2019Article
- Identification and annotation of breed-specific single nucleotide polymorphisms in Bos taurus genomes.PloS one · 2018Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a congenital skin disease. The clinical findings in affected calves were compatible with epidermolysis bullosa.
resultsPedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle. We genotyped two diseased and 41 healthy animals at 41,436 single nucleotide polymorphisms and performed whole-genome haplotype-based association testing, which allowed us to map the locus responsible for the skin disease to the distal end of bovine chromosome 22 (P = 8.0 × 10
conclusionsAutosomal recessive epidermolysis bullosa in Vorderwald and Rotes Höhenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. Our findings demonstrate that deleterious alleles may segregate across cattle populations without apparent admixture. The identification of the causal mutation now enables the reliable detection of carrier animals. Genome-based mating strategies can avoid inadvertent matings of carrier animals thereby preventing the birth of homozygous calves that suffer from a painful skin disease.
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