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Genetic basis of cohesinopathies

By Barbero JL


José L Barbero Cellular and Molecular Biology Department, Biological Research Center, Madrid, Spain 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. Keywords: cohesin, cohesinopathies, Cornelia de Lange syndrome, Roberts syndrome, control, gene expression, insulator

Topics: Genetics, QH426-470, Biology (General), QH301-705.5, Science, Q, DOAJ:Genetics, DOAJ:Biology, DOAJ:Biology and Life Sciences, Medicine (General), R5-920
Publisher: Dove Medical Press
Year: 2013
OAI identifier: oai:doaj.org/article:c5b0771563a940e4aeeae8d9fbb003d9
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