Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

Chromosoma. 2007 Feb;116(1):1-13. doi: 10.1007/s00412-006-0072-6. Epub 2006 Jul 4.

Abstract

The sister chromatid cohesion apparatus mediates physical pairing of duplicated chromosomes. This pairing is essential for appropriate distribution of chromosomes into the daughter cells upon cell division. Recent evidence shows that the cohesion apparatus, which is a significant structural component of chromosomes during interphase, also affects gene expression and development. The Cornelia de Lange (CdLS) and Roberts/SC phocomelia (RBS/SC) genetic syndromes in humans are caused by mutations affecting components of the cohesion apparatus. Studies in Drosophila suggest that effects on gene expression are most likely responsible for developmental alterations in CdLS. Effects on chromatid cohesion are apparent in RBS/SC syndrome, but data from yeast and Drosophila point to the likelihood that changes in expression of genes located in heterochromatin could contribute to the developmental deficits.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Acetyltransferases / genetics
  • Acetyltransferases / metabolism
  • Animals
  • Cell Cycle Proteins / genetics
  • Cell Cycle Proteins / metabolism
  • Cell Cycle Proteins / physiology
  • Chromatids / genetics*
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosomal Proteins, Non-Histone / physiology
  • Chromosome Pairing
  • De Lange Syndrome / genetics*
  • Drosophila / genetics
  • Drosophila / growth & development
  • Ectromelia
  • Gene Expression Regulation, Developmental
  • Gene Expression*
  • Gene Silencing
  • Genes, Recessive
  • Humans
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Nuclear Proteins / physiology
  • Saccharomyces cerevisiae Proteins / genetics
  • Saccharomyces cerevisiae Proteins / metabolism
  • Sister Chromatid Exchange
  • Syndrome
  • Yeasts / genetics

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • Nuclear Proteins
  • PDS5 protein, S cerevisiae
  • Saccharomyces cerevisiae Proteins
  • cohesins
  • Acetyltransferases
  • ECO1 protein, S cerevisiae
  • ESCO2 protein, human