ArticleAmerican journal of human genetics2016
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 37 citations in OpenAlex.
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- The Genetic Landscape of Familial Pulmonary Fibrosis.American journal of respiratory and critical care medicine · 2023Article
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- PCSK9 facilitates melanoma pathogenesis via a network regulating tumor immunity.Journal of experimental & clinical cancer research : CR · 2023Article
- RSDB: A rare skin disease database to link drugs with potential drug targets for rare skin diseases.Scientific data · 2022Article
- Whole-genome sequence analysis reveals selection signatures for important economic traits in Xiang pigs.Scientific reports · 2022Article
- Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.Experimental dermatology · 2022Article
- Skin Disease Models In Vitro and Inflammatory Mechanisms: Predictability for Drug Development.Handbook of experimental pharmacology · 2021Article
- An Indo-Pacific Humpback Dolphin Genome Reveals Insights into Chromosome Evolution and the Demography of a Vulnerable Species.iScience · 2020Article
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The progression of the ClinGen gene clinical validity classification over time.Human mutation · 2018Article
- 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
- Biological Effects of a Fine Fiber Film Treated With a Lotion to Improve Dry Skin.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)Article
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Authors and funding
13 authors at 6 institutions in 4 countries.
Funding
Abstract
SERPINS comprise a large and functionally diverse family of serine protease inhibitors. Here, we report three unrelated families with loss-of-function mutations in SERPINB8 in association with an autosomal-recessive form of exfoliative ichthyosis. Whole-exome sequencing of affected individuals from a consanguineous Tunisian family and a large Israeli family revealed a homozygous frameshift mutation, c.947delA (p.Lys316Serfs(∗)90), and a nonsense mutation, c.850C>T (p.Arg284(∗)), respectively. These two mutations are located in the last exon of SERPINB8 and, hence, would not be expected to lead to nonsense-mediated decay of the mRNA; nonetheless, both mutations are predicted to lead to loss of the reactive site loop of SERPINB8, which is crucial for forming the SERPINB8-protease complex. Using Sanger sequencing, a homozygous missense mutation, c.2T>C (p.Met1?), predicted to result in an N-terminal truncated protein, was identified in an additional family from UAE. Histological analysis of a skin biopsy from an individual homozygous for the variant p.Arg284(∗) showed disadhesion of keratinocytes in the lower epidermal layers plus decreased SERPINB8 levels compared to control. In vitro studies utilizing siRNA-mediated knockdown of SERPINB8 in keratinocytes demonstrated that in the absence of the protein, there is a cell-cell adhesion defect, particularly when cells are subjected to mechanical stress. In addition, immunoblotting and immunostaining revealed an upregulation of desmosomal proteins. In conclusion, we report mutations in SERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contributes to the mechanical stability of intercellular adhesions in the epidermis.
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