Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.

doi:10.1016/j.bbadis.2013.07.020

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Article

Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.

Biochimica et biophysica acta - 1 Dec 2013

Remeseiro Silvia, Cuadrado Ana, Kawauchi Shimako, Calof Anne L, Lander Arthur D, Losada Ana

Abstract excerpt

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...

Topics

Animals
Blotting, Western
Brain
Cell Cycle Proteins
Cell Survival
Cells, Cultured
Chromosomal Proteins, Non-Histone
Chromosome Segregation
DNA Repair
DNA Replication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

De Lange Syndrome

Disease Models, Animal

Embryo, Mammalian

Fibroblasts

Fluorescent Antibody Technique

Heterozygote

In Situ Hybridization, Fluorescence

Mice

Source

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Identifiers

PMID: 23920377
DOI: 10.1016/j.bbadis.2013.07.020
PMCID: PMC3825806

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Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.PMID 23920377Read ↗

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.Semantic proximity Read ↗

The effect of Nipped-B-Like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange SyndromeSemantic proximity Read ↗

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.Semantic proximity Read ↗

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.Semantic proximity Read ↗

Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl+/- embryos.Semantic proximity Read ↗

A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromesSemantic proximity Read ↗

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.Semantic proximity Read ↗

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.Semantic proximity Read ↗

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.Semantic proximity Read ↗

Decreasing <i>Wapl</i> dosage partially corrects transcriptome phenotypes in <i>Nipbl</i> -/+ embryonic mouse brainSemantic proximity Read ↗

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.Semantic proximity Read ↗

Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.Semantic proximity Read ↗

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