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Nucleic Acids Research Advance Access originally published online on October 14, 2008
Nucleic Acids Research 2008 36(20):6450-6458; doi:10.1093/nar/gkn688
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Nucleic Acids Research, 2008, Vol. 36, No. 20 6450-6458
© 2008 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


Gene regulation, Chromatin and Epigenetics

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

Philipp Jahnke1, Weizhen Xu1,2, Manuela Wülling3, Melanie Albrecht1, Heinz Gabriel4, Gabriele Gillessen-Kaesbach1 and Frank J. Kaiser1,*

1Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany, 2Institute of Cell Biology, College of Medicine, Zhejiang University, China, 3Zentrum für medizinische Biotechnologie, Arbeitsgruppe Entwicklungsbiologie, 45141 Essen and 4Zentrum für Medizinische Genetik, 49076 Osnabrück, Germany

*To whom correspondence should be addressed. Tel: +49 451 5002623; Fax: +49 451 5004861; Email: frank.kaiser{at}uk-sh.de

Received September 4, 2008. Revised September 22, 2008. Accepted September 24, 2008.

Cornelia de Lange Syndrome (CdLS) is a rare congenital malformation disorder. About half of the patients with CdLS carry mutations in the NIPBL gene encoding the NIPBL protein, a subunit of the Cohesin loading complex. Recent studies show association of Cohesin with chromatin-remodeling complexes, either by establishing cohesion or by recruiting Cohesin to specific chromosome locations. In yeast two-hybrid assays, we identified an interaction of NIPBL with the histone deacetylases -1 and -3. These interactions were confirmed in mammalian cells by coimmunoprecipitation and a critical region for interaction was defined to a stretch of 163 amino acids of a highly conserved region of NIPBL, which is mutated in patients with CdLS. Utilizing reporter gene assays, we could show that NIPBL fused to the GAL4-DNA-binding domain (GAL4-DBD) represses promoter activity via the recruitment of histone deacetylases. Interestingly, this effect is dramatically reduced by both NIPBL missense mutations identified in CdLS and by chemical inhibition of the histone deacetylases. Our data are the first to indicate a molecular and functional connection of NIPBL with chromatin-remodeling processes via the direct interaction with histone deacetylases.


The authors wish it to be known that, in their opinion, the first three authors should be regarded as joint First Authors


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