The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer

Hum Mutat. 2010 Jun;31(6):623-30. doi: 10.1002/humu.21252.


Cohesin is responsible for sister chromatid cohesion, ensuring the correct chromosome segregation. Beyond this role, cohesin and regulatory cohesin genes seem to play a role in preserving genome stability and gene transcription regulation. DNA damage is thought to be a major culprit for many human diseases, including cancer. Our present knowledge of the molecular basis underlying genome instability is extremely limited. Mutations in cohesin genes cause human diseases such as Cornelia de Lange syndrome and Roberts syndrome/SC phocomelia, and all the cell lines derived from affected patients show genome instability. Cohesin mutations have also been identified in colorectal cancer. Here, we will discuss the human disorders caused by alterations of cohesin function, with emphasis on the emerging role of cohesin as a genome stability caretaker.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / physiology
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomal Proteins, Non-Histone / physiology
  • De Lange Syndrome / genetics
  • De Lange Syndrome / physiopathology
  • Gene Expression Regulation
  • Genetic Predisposition to Disease / genetics*
  • Genomic Instability*
  • Humans
  • Mutation*
  • Neoplasms / genetics
  • Neoplasms / physiopathology
  • Signal Transduction / genetics
  • Signal Transduction / physiology


  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • cohesins