Article
A cohesin cancer mutation reveals a role for the hinge domain in genome organization and gene expression.
PLoS genetics - 1 Mar 2021
Carico Zachary M, Stefan Holden C, Justice Megan, Yimit Askar, Dowen Jill M
Abstract excerpt
The cohesin complex spatially organizes interphase chromatin by bringing distal genomic loci into close physical proximity, looping out the intervening DNA. Mutation of cohesin complex subunits is observed in cancer and developmental disorders, but the mechanisms through which these mutations may contribute to disease remain poorly understood. Here, we investigate a recurrent missense mutation to the hinge domain...
Topics
- Animals
- Cell Cycle Proteins
- Cell Line, Tumor
- Chromosomal Proteins, Non-Histone
- Embryonic Stem Cells
- Enhancer Elements, Genetic
- Gene Expression Profiling
- Gene Expression Regulation, Neoplastic
- Histones
- Mice