De Lange Syndrome
Return to Library
|
Free De Lange Syndrome Articles |
|
|
|
|
Research from St. Louis University has provided new data on de lange syndrome
2009 MAY 26 - (NewsRx.com) -- "The cohesin complex, discovered through its role in sister chromatid cohesion, also plays roles in gene expression and development in organisms from yeast to human. This review highlights what has been learned about the gene control and developmental functions of cohesin and the Nipped-B (NIPBL/Scc2) cohesin loading factor in Drosophila," investigators in the United States report. "The Drosophila studies have provided unique insights into the aetiology of Cornelia de Lange syndrome (CdLS), which is caused by mutations affecting sister chromatid cohesion proteins in humans. In vivo experiments with Drosophila show that cohesin and Nipped-B have dosage-sensitive effects on the functions of many evolutionarily conserved genes and developmental pathways. Genome-wide studies with Drosophila cultured cells show that Nipped-B and cohesin co-localize on chromosomes, and bind preferentially, but not exclusively, to many actively transcribed genes and their regulatory sequences, including many of the proposed in vivo target genes. In contrast, the cohesion factors are largely excluded from genes silenced by Polycomb group (PcG) proteins," wrote D. Dorsett and colleagues, St. Louis University. The researchers concluded: "Combined, the in vivo genetic data and the binding patterns of cohesin and Nipped-B in cultured cells are consistent with the hypothesis that they control the action of gene regulatory sequences, including transcriptional enhancers and insulators, and suggest that they might also help define active chromatin domains and influence transcriptional elongation." Dorsett and colleagues published their study in Chromosome Research (Cohesin, gene expression and development: Lessons from Drosophila. Chromosome Research, 2009;17(2):185-200). For additional information, contact D. Dorsett, St. Louis University, School Medical, Edward A Doisy Dept. of Biochemistry & Molecular Biology, 1100 S Grand Blvd., St. Louis, MO 63104, USA. The publisher of the journal Chromosome Research can be contacted at: Springer, Van Godewijckstraat 30, 3311 Gz Dordrecht, Netherlands. Keywords: United States, St. Louis, De Lange Syndrome, St. Louis University. This article was prepared by Science Letter editors from staff and other reports. Copyright 2009, Science Letter via NewsRx.com.
|
