ArticlePLoS genetics2017
A de novo variant in the ASPRV1 gene in a dog with ichthyosis.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.Animal genetics · 2025Article
- The human retroviral-like aspartic protease 1 (ASPRV1): From in vitro studies to clinical correlations.The Journal of biological chemistry · 2024Review
- Epidermal Barrier Development via Corneoptosis: A Unique Form of Cell Death in Stratum Granulosum Cells.Journal of developmental biology · 2023Review
- Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.Veterinary sciences · 2022Review
- ABHD5 frameshift deletion in Golden Retrievers with ichthyosis.G3 (Bethesda, Md.) · 2022Article
- Article
- A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.Molecular genetics and genomics : MGG · 2021Article
- Update on canine filaggrin: a review.The veterinary quarterly · 2020Review
- Article
- MultipleGenes · 2020Article
- Biochemical Characterization of Human Retroviral-Like Aspartic Protease 1 (ASPRV1).Biomolecules · 2020Article
- Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.American journal of human genetics · 2020Article
- Molecular Mechanism of Epidermal Barrier Dysfunction as Primary Abnormalities.International journal of molecular sciences · 2020Review
- Article
- Filaggrin and filaggrin 2 processing are linked together through skin aspartic acid protease activation.PloS one · 2020Article
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy.Veterinary medicine and science · 2019Article
- Refined Immunochemical Characterization in Healthy Dog Skin of the Epidermal Cornification Proteins, Filaggrin, and Corneodesmosin.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2019Article
- Ichthyosis molecular fingerprinting shows profound TThe Journal of allergy and clinical immunology · 2019Article
- Prevalence ofVeterinary sciences · 2018Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier function. During terminal differentiation of keratinocytes, the precursor profilaggrin is cleaved by several proteases into filaggrin monomers and eventually processed into free amino acids contributing to the hydration of the cornified layer. We studied a German Shepherd dog with a novel form of ichthyosis. Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the ASPRV1 gene encoding "aspartic peptidase, retroviral-like 1", which is also known as skin aspartic protease (SASPase). The variant was absent in both parents and therefore due to a de novo mutation event. It was a missense variant, c.1052T>C, affecting a conserved residue close to an autoprocessing cleavage site, p.(Leu351Pro). ASPRV1 encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. By immunofluorescence staining we showed that the filaggrin expression pattern was altered in the affected dog. Thus, our findings provide strong evidence that the identified de novo variant is causative for the ichthyosis in the affected dog and that ASPRV1 plays an essential role in skin barrier formation. ASPRV1 is thus a novel candidate gene for unexplained human forms of ichthyoses.
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