ArticleAmerican journal of human genetics2005
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 135 citations in OpenAlex.
- Multi-Species Transcriptomics of the Mammalian Stomach Reveals Conserved Programs and Ruminant Chamber Specialization.Biology · 2026Article
- Acral Peeling Skin Syndrome: More than a Rare Genodermatosis Affecting Not Only the Skin.Medicina (Kaunas, Lithuania) · 2026Article
- Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling.The Journal of dermatology · 2025Article
- Transglutaminase 1: Emerging Functions beyond Skin.International journal of molecular sciences · 2024Review
- Gene Expression Analysis before and after the Pelvic Flexure in the Epithelium of the Equine Hindgut.Animals : an open access journal from MDPI · 2024Article
- The Evolution of Transglutaminases Underlies the Origin and Loss of Cornified Skin Appendages in Vertebrates.Molecular biology and evolution · 2024Article
- Juvenile-onset Skin Fragility with Acral Blistering: A Quiz.Acta dermato-venereologica · 2024Article
- Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.Scientific reports · 2023Article
- Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds.International journal of molecular sciences · 2023Article
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- Transglutaminase 3 Reduces the Severity of Psoriasis in Imiquimod-Treated Mouse Skin.International journal of molecular sciences · 2020Article
- Transglutaminases: part I-origins, sources, and biotechnological characteristics.World journal of microbiology & biotechnology · 2020Review
- Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.The Journal of dermatology · 2020Article
- Transglutaminases in Monocytes and Macrophages.Medical sciences (Basel, Switzerland) · 2018Review
- Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.The Journal of investigative dermatology · 2018Article
- Transglutaminase 2 mediates UV-induced skin inflammation by enhancing inflammatory cytokine production.Cell death & disease · 2017Article
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- Luteolin-7-glucoside inhibits IL-22/STAT3 pathway, reducing proliferation, acanthosis, and inflammation in keratinocytes and in mouse psoriatic model.Cell death & disease · 2016Article
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
Peeling skin syndrome is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In the acral form, the dorsa of the hands and feet are predominantly affected. Ultrastructural analysis has revealed tissue separation at the junction between the granular cells and the stratum corneum in the outer epidermis. Genomewide linkage analysis in a consanguineous Dutch kindred mapped the gene to 15q15.2 in the interval between markers D15S1040 and D15S1016. Two homozygous missense mutations, T109M and G113C, were found in TGM5, which encodes transglutaminase 5 (TG5), in all affected persons in two unrelated families. The mutation was present on the same haplotype in both kindreds, indicating a probable ancestral mutation. TG5 is strongly expressed in the epidermal granular cells, where it cross-links a variety of structural proteins in the terminal differentiation of the epidermis to form the cornified cell envelope. An established, in vitro, biochemical cross-linking assay revealed that, although T109M is not pathogenic, G113C completely abolishes TG5 activity. Three-dimensional modeling of TG5 showed that G113C lies close to the catalytic domain, and, furthermore, that this glycine residue is conserved in all known transglutaminases, which is consistent with pathogenicity. Other families with more-widespread peeling skin phenotypes lacked TGM5 mutations. This study identifies the first causative gene in this heterogeneous group of skin disorders and demonstrates that the protein cross-linking function performed by TG5 is vital for maintaining cell-cell adhesion between the outermost layers of the epidermis.
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