Journal
APPLICATION OF CLINICAL GENETICS
Volume 6, Issue -, Pages 15-23Publisher
DOVE MEDICAL PRESS LTD
DOI: 10.2147/TACG.S34457
Keywords
cohesin; cohesinopathies; Cornelia de Lange syndrome; Roberts syndrome; control; gene expression; insulators
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Funding
- Spanish Ministerio de Ciencia e Innovacion [BFU2009-08975/BMC]
- Fundacion Mutua Madrilena [AP98712012]
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Cohesin is a ring-form multifunctional protein complex, which was discovered during a search for molecules that keep sister chromatids together during segregation of chromosomes during cell division. In the past decade, a large number of results have also demonstrated a need for the cohesin complex in other crucial events in the life cycle of the cell, including DNA duplication, heterochromatin formation, DNA double-strand break repair, and control of gene expression. The dynamics of the cohesin ring are modulated by a number of accessory and regulatory proteins, known as cohesin cofactors. Loss of function of the cohesin complex is incompatible with life; however, mutations in the genes encoding for cohesin subunits and/or cohesin cofactors, which have very little or a null effect on chromosome segregation, represent a newly recognized class of human genetic disorders known as cohesinopathies. A number of genetic, biochemical, and clinical approaches, and importantly, animal models, can help us to determine the underlying mechanisms for these human diseases.
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