Abstract
Ribosome biogenesis is a highly energy-demanding process in eukaryotes which requires the concerted action of all three RNA polymerases. In RNA polymerase II transcription, the general transcription factor TFIIH is recruited by TFIIE to the initiation site of protein-coding genes. Distinct mutations in TFIIH or TFIIE lead to the rare autosomal recessive disorder trichothiodystrophy (TTD) characterized by a variety of symptoms including brittle hair, ichthyosis, and premature aging symptoms. While TFIIH is known to play an additional role in the production of ribosomal RNA (rRNA) by RNA polymerase I, the involvement of TFIIE in the RNA polymerase I transcription remains unknown.
Highlights
Loss-of-function variants in SERPINA12 underlie autosomal recessive palmoplantar keratoderma J Mohamad1,2, O Sarig1, L Malki1,2, T Rabinowitz2, S Assaf1,2, K Malovitski1,2, M Pavlovsky1, N Shomron2, L Samuelov1,2 and E Sprecher1,2 1 Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel and 2 Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel Inherited palmoplantar keratodermas (PPKs) refer to a large and heterogeneous group of conditions resulting from abnormal epidermal differentiation and featuring thickening of the skin of the palms and soles
Decreased SERPINA12 expression resulted in reduced vaspin-mediated inhibition of kallikrein 7 activity as well as decreased levels of desmoglein-1 and corneodesmosin, two known kallikrein 7 substrates which have been previously implicated in the pathogenesis of PPKs and peeling skin syndromes
Diseases caused by mutations leading to shifting reading frames and premature termination codon (PTC) appearance could be mitigated by drugs causing stop codon skipping, such as gentamicin
Summary
Loss-of-function variants in SERPINA12 underlie autosomal recessive palmoplantar keratoderma J Mohamad1,2, O Sarig1, L Malki1,2, T Rabinowitz2, S Assaf1,2, K Malovitski1,2, M Pavlovsky1, N Shomron2, L Samuelov1,2 and E Sprecher1,2 1 Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel and 2 Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel Inherited palmoplantar keratodermas (PPKs) refer to a large and heterogeneous group of conditions resulting from abnormal epidermal differentiation and featuring thickening of the skin of the palms and soles.
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