ArticleCurrent biology : CB2017
Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2.
Article in Current biology : CB, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
What it found
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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
70 citing papers in PubMed, 109 citations in OpenAlex.
- Association of the Disheveled 2 (DVL2) Gene c.2044delC Variant with Increased Risk of Canine Cleft Palate.Animal genetics · 2026Article
- Breed-Specific Dental Variations in Dogs Assessing Malocclusions Using Computed Tomography (CT).Veterinary sciences · 2026Article
- A phylogenetic estimate of canine retrotransposition rates based on genome assembly comparisons.Mobile DNA · 2026Article
- Prevalence and Characteristics of Feline Ulcerative Keratitis and Corneal Sequestra in a Referral Population and Comparison Between Brachycephalic and Nonbrachycephalic Cats.Veterinary ophthalmology · 2026Article
- Identification and Characterisation of Canine Osteosarcoma Biomarkers and Therapeutic Targets.Cancers · 2026Article
- Quantitative genetic analysis of respiratory function and related traits in Bulldogs, French Bulldogs and Pugs.PloS one · 2026Article
- Autocrine ECM molecules establish MSC quiescence during incisor development by disrupting WNT ligand trafficking process.Nature communications · 2025Article
- A phylogenetic estimate of canine retrotransposition rates based on genome assembly comparisons.bioRxiv : the preprint server for biology · 2025Article
- Symbiosis with and mimicry of corals were facilitated by immune gene loss and body remodeling in the pygmy seahorse.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The genomics of the domestication syndrome in a songbird model species.Communications biology · 2025Article
- Analysis of canine gene constraint identifies new variants for orofacial clefts and stature.Genome research · 2025Article
- Genomic evidence for behavioral adaptation of herding dogs.Science advances · 2025Article
- Adaptation in the Alleyways: Candidate Genes Under Potential Selection in Urban Coyotes.Genome biology and evolution · 2025Article
- Genome-wide selection analysis identifies genes associated with mandibular defects in Duolang sheep.Frontiers in veterinary science · 2025Article
- Meningoencephalitis of unknown origin in dogs under veterinary referral care in England (2017-2021): a multicenter case control study.Frontiers in veterinary science · 2025Article
- Evaluation of a caudal midline glossectomy on tongue volume and upper airway cross-sectional areas in brachycephalic dogs: a cadaveric study.Frontiers in veterinary science · 2025Article
- Evolutionary consequences of domestication on the selective effects of new amino acid changing mutations in canids.bioRxiv : the preprint server for biology · 2024Article
- Breed function and behaviour correlate with endocranial volume in domestic dogs.Biology letters · 2024Article
- Dogs and their genes: what ever will they think of next?Genetics · 2024Article
- A naturally occurring canine model of syndromic congenital microphthalmia.G3 (Bethesda, Md.) · 2024Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 7 institutions in 3 countries.
Funding
Abstract
In morphological terms, "form" is used to describe an object's shape and size. In dogs, facial form is stunningly diverse. Facial retrusion, the proximodistal shortening of the snout and widening of the hard palate is common to brachycephalic dogs and is a welfare concern, as the incidence of respiratory distress and ocular trauma observed in this class of dogs is highly correlated with their skull form. Progress to identify the molecular underpinnings of facial retrusion is limited to association of a missense mutation in BMP3 among small brachycephalic dogs. Here, we used morphometrics of skull isosurfaces derived from 374 pedigree and mixed-breed dogs to dissect the genetics of skull form. Through deconvolution of facial forms, we identified quantitative trait loci that are responsible for canine facial shapes and sizes. Our novel insights include recognition that the FGF4 retrogene insertion, previously associated with appendicular chondrodysplasia, also reduces neurocranium size. Focusing on facial shape, we resolved a quantitative trait locus on canine chromosome 1 to a 188-kb critical interval that encompasses SMOC2. An intronic, transposable element within SMOC2 promotes the utilization of cryptic splice sites, causing its incorporation into transcripts, and drastically reduces SMOC2 gene expression in brachycephalic dogs. SMOC2 disruption affects the facial skeleton in a dose-dependent manner. The size effects of the associated SMOC2 haplotype are profound, accounting for 36% of facial length variation in the dogs we tested. Our data bring new focus to SMOC2 by highlighting its clinical implications in both human and veterinary medicine.
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Registered trials
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.