ArticlePLoS genetics2014
A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH).
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 57 citations in OpenAlex.
- The Contribution of Native Protein Complexes to Targeted Protein Degradation.ACS chemical biology · 2026Article
- GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis.Animal genetics · 2026Article
- Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion inFrontiers in medicine · 2025Article
- A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.Open biology · 2024Article
- Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.PLoS genetics · 2023Article
- Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.Veterinary sciences · 2022Review
- Nasal hyperkeratosis in Griffon breeds: Clinical, histopathological features and the prevalence in the Swedish population compared to a control group and other brachycephalic breeds.Veterinary record open · 2021Article
- Insight into the Candidate Genes and Enriched Pathways Associated with Height, Length, Length to Height Ratio and Body-Weight of Korean Indigenous Breed, Jindo Dog Using Gene Set Enrichment-Based GWAS Analysis.Animals : an open access journal from MDPI · 2021Article
- Article
- FAM83G Is a Novel Inducer of Apoptosis.Molecules (Basel, Switzerland) · 2020Article
- Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.PLoS genetics · 2020Article
- AGenes · 2020Article
- Genome wide association study of 40 clinical measurements in eight dog breeds.Scientific reports · 2020Article
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.Human genetics · 2019Review
- vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed.Canine genetics and epidemiology · 2019Article
- PathogenicWellcome open research · 2019Article
- The FAM83 family of proteins: from pseudo-PLDs to anchors for CK1 isoforms.Biochemical Society transactions · 2018Review
- Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.PLoS genetics · 2018Article
- PAWS1 controls Wnt signalling through association with casein kinase 1α.EMBO reports · 2018Article
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary footpad hyperkeratosis (HFH) represents a palmoplantar hyperkeratosis, which is inherited as a monogenic autosomal recessive trait in several dog breeds, such as e.g. Kromfohrländer and Irish Terriers. We performed genome-wide association studies (GWAS) in both breeds. In Kromfohrländer we obtained a single strong association signal on chromosome 5 (p(raw) = 1.0×10(-13)) using 13 HFH cases and 29 controls. The association signal replicated in an independent cohort of Irish Terriers with 10 cases and 21 controls (p(raw) = 6.9×10(-10)). The analysis of shared haplotypes among the combined Kromfohrländer and Irish Terrier cases defined a critical interval of 611 kb with 13 predicted genes. We re-sequenced the genome of one affected Kromfohrländer at 23.5× coverage. The comparison of the sequence data with 46 genomes of non-affected dogs from other breeds revealed a single private non-synonymous variant in the critical interval with respect to the reference genome assembly. The variant is a missense variant (c.155G>C) in the FAM83G gene encoding a protein with largely unknown function. It is predicted to change an evolutionary conserved arginine into a proline residue (p.R52P). We genotyped this variant in a larger cohort of dogs and found perfect association with the HFH phenotype. We further studied the clinical and histopathological alterations in the epidermis in vivo. Affected dogs show a moderate to severe orthokeratotic hyperplasia of the palmoplantar epidermis. Thus, our data provide the first evidence that FAM83G has an essential role for maintaining the integrity of the palmoplantar epidermis.
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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.