Back to Journals » The Application of Clinical Genetics » Volume 6

Genetic basis of cohesinopathies

Authors Barbero JL

Received 28 February 2013

Accepted for publication 21 March 2013

Published 1 May 2013 Volume 2013:6 Pages 15—23

DOI https://doi.org/10.2147/TACG.S34457

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3


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, insulators

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]