期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1832, 期 12, 页码 2097-2102出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbadis.2013.07.020
关键词
Cornelia de Lange Syndrome; Nibpl; Cohesin; Transcription; Mouse model
资金
- Spanish Ministry of Economy and Competitiveness [SAF-2010-21517, CSD2007-00015]
- NIH [P01-HD052860]
- La Caixa predoctoral fellowship
Cornelia de Lange Syndrome (CdLS) is a genetic disorder linked to mutations in cohesin and its regulators. To date, it is unclear which function of cohesin is more relevant to the pathology of the syndrome. A mouse heterozygous for the gene encoding the cohesin loader Nipbl recapitulates many features of CdLS. We have carefully examined Nipbl deficient cells and here report that they have robust cohesion all along the chromosome. DNA replication, DNA repair and chromosome segregation are carried out efficiently in these cells. While bulk cohesin loading is unperturbed, binding to certain promoters such as the Protocadherin genes in brain is notably affected and alters gene expression. These results provide further support for the idea that developmental defects in CdLS are caused by deregulated transcription and not by malfunction of cohesion-related processes. (C) 2013 Elsevier B.V. All rights reserved.
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