ArticlePLoS genetics2013
A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 38 citations in OpenAlex.
- Evaluation of the Interest in and Tolerance of a Topical Emollient in the Management of Canine Nasal Hyperkeratosis: An Open-Label, Prospective, Uncontrolled Pilot Study.Veterinary sciences · 2025Article
- Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.Veterinary sciences · 2022Review
- Lysine methyltransferase inhibitors: where we are now.RSC chemical biology · 2022Review
- Structure, Activity and Function of the Suv39h1 and Suv39h2 Protein Lysine Methyltransferases.Life (Basel, Switzerland) · 2021Review
- Disorder predispositions and protections of Labrador Retrievers in the UK.Scientific reports · 2021Article
- SUV39H2 epigenetic silencing controls fate conversion of epidermal stem and progenitor cells.The Journal of cell biology · 2021Article
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- Article
- Abnormal keratinocyte differentiation in the nasal planum of Labrador Retrievers with hereditary nasal parakeratosis (HNPK).PloS one · 2020Article
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- Article
- Epigenetic control in skin development, homeostasis and injury repair.Experimental dermatology · 2019Review
- Identification of SUV39H2 as a potential oncogene in lung adenocarcinoma.Clinical epigenetics · 2018Article
- A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (G3 (Bethesda, Md.) · 2017Article
- Evaluation of the genetic basis of primary hypoadrenocorticism in Standard Poodles using SNP array genotyping and whole-genome sequencing.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Article
- An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture.G3 (Bethesda, Md.) · 2016Article
- Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.G3 (Bethesda, Md.) · 2016Article
- Evaluation of whole-genome sequencing of four Chinese crested dogs for variant detection using the ion proton system.Canine genetics and epidemiology · 2015Article
- A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH).PLoS genetics · 2014Article
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Authors and funding
20 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary nasal parakeratosis (HNPK), an inherited monogenic autosomal recessive skin disorder, leads to crusts and fissures on the nasal planum of Labrador Retrievers. We performed a genome-wide association study (GWAS) using 13 HNPK cases and 23 controls. We obtained a single strong association signal on chromosome 2 (p(raw) = 4.4×10⁻¹⁴). The analysis of shared haplotypes among the 13 cases defined a critical interval of 1.6 Mb with 25 predicted genes. We re-sequenced the genome of one case at 38× coverage and detected 3 non-synonymous variants in the critical interval with respect to the reference genome assembly. We genotyped these variants in larger cohorts of dogs and only one was perfectly associated with the HNPK phenotype in a cohort of more than 500 dogs. This candidate causative variant is a missense variant in the SUV39H2 gene encoding a histone 3 lysine 9 (H3K9) methyltransferase, which mediates chromatin silencing. The variant c.972T>G is predicted to change an evolutionary conserved asparagine into a lysine in the catalytically active domain of the enzyme (p.N324K). We further studied the histopathological alterations in the epidermis in vivo. Our data suggest that the HNPK phenotype is not caused by hyperproliferation, but rather delayed terminal differentiation of keratinocytes. Thus, our data provide evidence that SUV39H2 is involved in the epigenetic regulation of keratinocyte differentiation ensuring proper stratification and tight sealing of the mammalian epidermis.
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