| First Author | Remeseiro S | Year | 2013 |
| Journal | Biochim Biophys Acta | Volume | 1832 |
| Issue | 12 | Pages | 2097-102 |
| PubMed ID | 23920377 | Mgi Jnum | J:204095 |
| Mgi Id | MGI:5529580 | Doi | 10.1016/j.bbadis.2013.07.020 |
| Citation | Remeseiro S, et al. (2013) Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome. Biochim Biophys Acta 1832(12):2097-102 |
| abstractText | 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. |
