Journal
CHROMOSOMA
Volume 116, Issue 1, Pages 1-13Publisher
SPRINGER
DOI: 10.1007/s00412-006-0072-6
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Funding
- NICHD NIH HHS [P01 HD052860] Funding Source: Medline
- NIGMS NIH HHS [R01 GM055683, R01 GM063403] Funding Source: Medline
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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.
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