ArticleJournal of molecular cell biology2019
A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment.
Article in Journal of molecular cell biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.Veterinary dermatology · 2026Article
- Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- Genetically modified pigs: Emerging animal models for hereditary hearing loss.Zoological research · 2024Review
- Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.Children (Basel, Switzerland) · 2022Review
- An insight into the runs of homozygosity distribution and breed differentiation in Mangalitsa pigs.Frontiers in genetics · 2022Article
- A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.Molecular genetics and genomics : MGG · 2021Article
- Experimental Models for the Study of Hereditary Cornification Defects.Biomedicines · 2021Review
- Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters.Free neuropathology · 2021Article
- A novel pig model capturing clinical symptoms of harlequin ichthyosis.Journal of molecular cell biology · 2019Article
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Authors and funding
19 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Harlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. The retinoid administration has dramatically improved long-term survival of HI, but improvements are still needed. However, the ABCA12 null mice failed to respond to retinoid treatment, which impedes the development of novel cure strategies for HI. Here we generated an ethylnitrosourea mutagenic HI pig model (named Z9), which carries a novel deep intronic mutation IVS49-727 A>G in the ABCA12 gene, resulting in abnormal mRNA splicing and truncated protein production. Z9 pigs exhibit significant clinical symptom as human patients with HI. Most importantly, systemic retinoid treatment significantly prolonged the life span of the mutant pigs via improving epidermal maturation, decreasing epidermal apoptosis, and triggering the expression of ABCA6. Taken together, this pig model perfectly resembles the clinical symptom and molecular pathology of patients with HI and will be useful for understanding mechanistic insight and developing therapeutic strategies.
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