ArticlePLoS genetics2021
The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels.
Article in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 26 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 29 citations in OpenAlex.
- New variants in ACE gene region in 10 Cavalier King Charles Spaniel dogs with mild and severe myxomatous mitral valve disease - preliminary study.Veterinary and animal science · 2026Article
- A Combination of Alleles in LMOD2 and a lncRNA is Strongly Associated With Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels.Animal genetics · 2026Article
- Prevalence of rs850683722 Variant and Its Influence on the Course of Myxomatous Mitral Valve Disease in 105 Cavalier King Charles Spaniel Dogs in the Polish Population.Animals : an open access journal from MDPI · 2026Article
- Breed-Specific Dental Variations in Dogs Assessing Malocclusions Using Computed Tomography (CT).Veterinary sciences · 2026Article
- Unraveling IGK locus in dog breeds: IMGTNAR genomics and bioinformatics · 2026Article
- Evaluation of the Prevalence of Genetic Variants at the Nebulette Locus in Cavalier King Charles Spaniels.Animals : an open access journal from MDPI · 2026Article
- Article
- Unveiling the significance of dog domestication in cognitive dysfunction: Are wolves protected?Open veterinary journal · 2025Article
- Genetic Basis of Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniel Dogs-A Review.Veterinary sciences · 2025Review
- Involvement of TGF-β, mTOR, and inflammatory mediators in aging alterations during myxomatous mitral valve disease in a canine model.GeroScience · 2025Review
- Small but Mighty: Genetic Diversity of the Thai Ridgeback Dog Population.Biochemical genetics · 2025Article
- Genomic Analysis Reveals Inbreeding in an Island Population of Alexander Archipelago Wolves.Evolutionary applications · 2025Article
- Analysis of canine gene constraint identifies new variants for orofacial clefts and stature.Genome research · 2025Article
- The beauty of the beast: Suggestions to curb the excesses of dog breeding and restore animal welfare - Invited review.Veterinarni medicina · 2024Review
- Canine vector-borne infections of working dogs of the Sri Lanka Air Force, and free roaming, and privately owned dogs.Scientific reports · 2024Article
- Article
- Improving laboratory animal genetic reporting: LAG-R guidelines.Nature communications · 2024Review
- Ethical Concerns about Fashionable Dog Breeding.Animals : an open access journal from MDPI · 2024Review
- The effect of MRI-based screening and selection on the prevalence of syringomyelia in the Dutch and Danish Cavalier King Charles Spaniels.Frontiers in veterinary science · 2024Article
- Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.Genome medicine · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
24 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Selective breeding for desirable traits in strictly controlled populations has generated an extraordinary diversity in canine morphology and behaviour, but has also led to loss of genetic variation and random entrapment of disease alleles. As a consequence, specific diseases are now prevalent in certain breeds, but whether the recent breeding practice led to an overall increase in genetic load remains unclear. Here we generate whole genome sequencing (WGS) data from 20 dogs per breed from eight breeds and document a ~10% rise in the number of derived alleles per genome at evolutionarily conserved sites in the heavily bottlenecked cavalier King Charles spaniel breed (cKCs) relative to in most breeds studied here. Our finding represents the first clear indication of a relative increase in levels of deleterious genetic variation in a specific breed, arguing that recent breeding practices probably were associated with an accumulation of genetic load in dogs. We then use the WGS data to identify candidate risk alleles for the most common cause for veterinary care in cKCs-the heart disease myxomatous mitral valve disease (MMVD). We verify a potential link to MMVD for candidate variants near the heart specific NEBL gene in a dachshund population and show that two of the NEBL candidate variants have regulatory potential in heart-derived cell lines and are associated with reduced NEBL isoform nebulette expression in papillary muscle (but not in mitral valve, nor in left ventricular wall). Alleles linked to reduced nebulette expression may hence predispose cKCs and other breeds to MMVD via loss of papillary muscle integrity.
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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 Socratic graph.