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Cohesin and human disease: lessons from mouse models.

Abstract
Cohesin is an evolutionarily conserved large ring-like multi-subunit protein structure that can encircle DNA. Cohesin affects many processes that occur on chromosomes such as segregation, DNA replication, double-strand break repair, condensation, chromosome organization, and gene expression. Mutations in the genes that encode cohesin and its regulators cause human developmental disorders and cancer. Several mouse models have been established with the aim of understanding the cohesin mediated processes that are disrupted in these diseases. Mouse models support the idea that cohesin is essential for cell division, but partial loss of function can alter gene expression, DNA replication and repair, gametogenesis, and nuclear organization.
AuthorsVijay Pratap Singh, Jennifer L Gerton
JournalCurrent opinion in cell biology (Curr Opin Cell Biol) Vol. 37 Pg. 9-17 (Dec 2015) ISSN: 1879-0410 [Electronic] England
PMID26343989 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
CopyrightCopyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.
Chemical References
  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • cohesins
  • DNA
Topics
  • Animals
  • Cell Cycle Proteins (genetics, metabolism)
  • Cell Division
  • Chromosomal Proteins, Non-Histone (genetics, metabolism)
  • DNA (genetics)
  • DNA Repair
  • DNA Replication
  • Disease Models, Animal
  • Humans
  • Mice
  • Phenotype

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