Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.
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.
Dorsett
Dale
D
Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, Saint Louis, MO 63104, USA. dorsettd@slu.edu
D000015:Abnormalities, Multiple / Q000235:genetics*; D000123:Acetyltransferases / Q000235:genetics / Q000378:metabolism; D000818:Animals; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D002842:Chromatids / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics / Q000502:physiology; D023902:Chromosome Pairing; D003635:De Lange Syndrome / Q000235:genetics*; D004330:Drosophila / Q000235:genetics / Q000254:growth & development; D004480:Ectromelia; D015870:Gene Expression; D018507:Gene Expression Regulation, Developmental; D020868:Gene Silencing; D005808:Genes, Recessive; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics / Q000378:metabolism; D012854:Sister Chromatid Exchange; D013577:Syndrome; D015003:Yeasts / Q000235:genetics; D000097722:Cohesins
D000123:Acetyltransferases; D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D009687:Nuclear Proteins; D029701:Saccharomyces cerevisiae Proteins; D000097722:Cohesins; C427726:PDS5 protein, S cerevisiae; C118076:ECO1 protein, S cerevisiae; C500785:ESCO2 protein, human