Roles of the sister chromatid cohesion apparatus in gene expression,development, and human syndromes |
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Authors: | Dale Dorsett |
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Institution: | (1) Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, Saint Louis, MO 63104, USA |
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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. |
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