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The Application of Clinical Genetics 2013:6 15–23 The Application of Clinical Genetics Genetic basis of cohesinopathies

By José L Barbero, Correspondence José and L Barbero

Abstract

Abstract: 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

Topics: cohesin, cohesinopathies, Cornelia de Lange syndrome, Roberts syndrome, control, gene
Year: 2016
OAI identifier: oai:CiteSeerX.psu:10.1.1.965.1108
Provided by: CiteSeerX
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