812 Type VII collagen and Nesprin 2, LINCing the basement membrane to altered cell cycle and increased DNA damage

Epidermolysis Bullosa is a severe blistering disease caused by mutations in basement membrane genes and is characterised by severe blistering of the skin and increased predisposition to cancer. To investigate the role of the skin basement membrane, siRNA knockdown of type IV, VII and XVII collagens was performed in primary keratinocytes. Global transcriptomic analysis was carried out using RNA-Seq. Dysregulation of genes involved in DNA damage and cell cycle control was seen in cells with Col7 and Col17 knockdown.

Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: S. Marsh, M.P. Caley, V. Martins, M. Chen, J. McGrath, M. Barnes, E.A. O'Toole Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research