HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.

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Tác giả: Uri Ashery, Sari Assaf, Shir Bergson, Noy Eretz Kdosha, Yarden Feller, Moshe Giladi, Stefan Hainzl, Yoni Haitin, Julia I Hummel, Lubna Gazi Khair, Thomas Kocher, Ulrich Koller, Kiril Malovitski, Bar Manori, Mariana Mogezel-Salem, Janan Mohamad, Mor Pavlovsky, Josefina Pinon Hofbauer, Rotem Rubinstein, Ofir Sade, Liat Samuelov, Ofer Sarig, Ruby Shalom-Feuerstein, Karina Smorodinsky-Atias, Eli Sprecher, Verena Wally, Roland Zauner

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : The Journal of experimental medicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 472557

Epidermolysis bullosa simplex (EBS) refers to a heterogeneous group of inherited skin disorders characterized by blister formation within the basal cell layer. The disease is characterized by marked variations in phenotype severity, suggesting co-inheritance of genetic modifiers. We identified three deleterious variants in HMCN1 that co-segregated with a more severe phenotype in a group of 20 individuals with EBS caused by mutations in KRT14, encoding keratin 14 (K14). HMCN1 codes for hemicentin-1. Protein modeling, molecular dynamics simulations, and functional experiments showed that all three HMCN1 variants disrupt protein stability. Hemicentin-1 was found to be expressed in human skin above the BMZ. Using yeast-2-hybrid, co-immunoprecipitation, and proximity ligation assays, we found that hemicentin-1 binds K14. Three-dimensional skin equivalents grown from hemicentin-1-deficient cells were found to spontaneously develop subepidermal blisters, and HMCN1 downregulation was found to reduce keratin intermediate filament formation. In conclusion, hemicentin-1 binds K14 and contributes to BMZ stability, which explains the fact that deleterious HMCN1 variants co-segregate with a more severe phenotype in KRT14-associated EBS.
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