Cohesinopathies of a feather flock together.

Abstract excerpt

Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects. Not surprisingly, RBS and CdLS arise from mutations within a single pathway--here involving cohesion. Sister chromatid tethering reactions that comprise cohesion are required for high fidelity chromosome segregation, but cohesin tethers also...

Topics

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• Chromosomal Proteins, Non-Histone
• Chromosome Segregation
• Cohesins
• Craniofacial Abnormalities
• De Lange Syndrome