TY - JOUR
T1 - Gene regulation and chromatin organization
T2 - Relevance of cohesin mutations to human disease
AU - Watrin, Erwan
AU - Kaiser, Frank J.
AU - Wendt, Kerstin S.
N1 - Funding Information:
Research in our labs is financed in part by The German Federal Ministry of Education and Research (BMBF) (to FJK), the French National Research Agency (ANR) (to EW) and the Netherlands Organization for Health Research and Development (ZonMw) (to KSW) under the frame of E-Rare-2 (TARGET-CdLS) the ERA-Net for Research on Rare Diseases.
Publisher Copyright:
© 2015 Elsevier Ltd.
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2016/4/1
Y1 - 2016/4/1
N2 - Consistent with the diverse roles of the cohesin complex in chromosome biology, mutations in genes encoding cohesin and its regulators are found in different types of cancer and in developmental disorders such as Cornelia de Lange Syndrome. It is so far considered that the defects caused by these mutations result from altered function of cohesin in regulating gene expression during development. Chromatin conformation analyses have established the importance of cohesin for the architecture of developmental gene clusters and in vivo studies in mouse and zebrafish demonstrated how cohesin defects lead to gene misregulation and to malformations similar to the related human syndromes. Here we present our current knowledge on cohesin's involvement in gene expression, highlighting molecular and mechanistic consequences of pathogenic mutations in the Cornelia de Lange syndrome.
AB - Consistent with the diverse roles of the cohesin complex in chromosome biology, mutations in genes encoding cohesin and its regulators are found in different types of cancer and in developmental disorders such as Cornelia de Lange Syndrome. It is so far considered that the defects caused by these mutations result from altered function of cohesin in regulating gene expression during development. Chromatin conformation analyses have established the importance of cohesin for the architecture of developmental gene clusters and in vivo studies in mouse and zebrafish demonstrated how cohesin defects lead to gene misregulation and to malformations similar to the related human syndromes. Here we present our current knowledge on cohesin's involvement in gene expression, highlighting molecular and mechanistic consequences of pathogenic mutations in the Cornelia de Lange syndrome.
UR - http://www.scopus.com/inward/record.url?scp=84955486608&partnerID=8YFLogxK
U2 - 10.1016/j.gde.2015.12.004
DO - 10.1016/j.gde.2015.12.004
M3 - Scientific review articles
C2 - 26821365
AN - SCOPUS:84955486608
SN - 0959-437X
VL - 37
SP - 59
EP - 66
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
ER -