Article
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.
Nature communications - 25 May 2021
Olley Gabrielle, Pradeepa Madapura M, Grimes Graeme R, Piquet Sandra, Polo Sophie E, FitzPatrick David R, Bickmore Wendy A, Boumendil Charlene
Abstract excerpt
Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The associated phenotype is generally assumed to be the consequence of aberrant transcriptional regulation. Recently, we identified a missense mutation in BRD4 associated with a Cornelia de Lange-like syndrome that reduces BRD4 binding to acetylated histones. Here we show...
Topics
- Animals
- Cell Cycle Proteins
- Cell Line
- Cell Line, Tumor
- Cells, Cultured
- DNA Damage
- DNA Repair
- De Lange Syndrome
- Genetic Predisposition to Disease
- Humans
- Mice