298 Defective DNA Repair and Chromosomal Instability in RDEB

Recessive Dystrophic Epidermolysis Bullosa (RDEB), caused by mutations in COL7A1 leading to a reduction or loss of type VII collagen (Col7), is a severe blistering disease associated with an increased risk of developing aggressive squamous cell carcinoma. Using RNASeq global transcriptomics we identified dysregulation of genes involved in cell cycle control, DNA damage response and chromosomal instability (CIN) with loss of keratinocyte Col7. To investigate the role of Col7 in DNA damage and CIN, keratinocytes with Col7 and Col17 (type XVII collagen) knockdown were treated with UV or mitomycin-C to induce DNA damage.

Source: Journal of Investigative Dermatology - August 31, 2019 Category: Dermatology Authors: M. Caley, S. Marsh, V.L. Martins, T. Corbett-Jones, M. Chen, W. Di, D. Sheer, J.A. McGrath, M. Barnes, E. O ’Toole Tags: Genetics and Cell Based Therapy Source Type: research