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Frameshift Mutation in NIPBL gene is associated with Cornelia de Lange Syndrome.
In Chinese patients with Cornelia de Lange syndrome, a heterozygous mutation in exon 20 of the NIPBL gene in proband 2, and a heterozygous mutation in intron 38 of the NIPBL gene in proband 3 were found, and RT-PCR revealed a splicing mutation in exon 38, generating both normal transcript and an aberrant alternatively spliced transcript with exon 38 deletion.
Downregulation of cohesin loading factor NIPBL arrested breast cancer cells in vitro in the G0/G1 phase of the cell cycle and induced apoptosis and autophagy.
Using fluorescence recovery after photobleaching (FRAP) and single-molecule tracking in human cells, the authors show that Scc2 binds dynamically to chromatin, principally through an association with cohesin.
Authors have identified a novel distal enhancer regulating both NIPBL and NIPBL-AS1.
Nipbl seems to have also additional roles, for instance as transcription factor.This chapter summarizes our current knowledge on kollerin function and the recent studies on the genomic localization of Scc2, highlighting and critically discussing controversial data.
The findings suggest similarities in the behavioral phenotype between those with and without the NIPBL mutation once differences in self help skills are controlled for.
We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes.
NIPBL has evolved a sophisticated response to damaged DNA that is influenced by the form of damage, suggesting a highly dynamic role for NIPBL in maintaining genomic stability.
Study identifies four likely Tourette disorder risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1 (Montrer WWC1 Protéines)), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3 (Montrer CELSR3 Protéines)), NIPBL (Nipped (Montrer RPL38 Protéines)-B-like), and FN1 (fibronectin 1 (Montrer FN1 Protéines)).
Nipbl and mediator cooperatively regulate gene expression to control limb development.
The present study focuses on the role of the zebrafish nipblb paralog during neural development.
Nipbl-deficient embryos showed changes in the expression of genes involved in the specification of endoderm, which gives rise to gut (Montrer GUSB Protéines) and provides a substrate for cardiac precursor migration, as well as genes that regulate left-right asymmetry
Depletion of Zfp609 or Nipbl from cortical neural progenitors in vivo is detrimental to neuronal migration. Zfp609 and Nipbl overlap at genomic binding sites independently of cohesin and regulate genes that control cortical neuron migration.
Nipbl transgenic mice display large atrial septal defects.
This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 (Montrer HDAC8 Protéines) mutations and PKR (Montrer EIF2AK2 Protéines) activation.
expression analysis of Smc1a (Montrer SMC1A Protéines) and Nipbl in developing mouse embryos reveals a specific pattern in the hindbrain
Nipbl+/- mutants are growth-retarded and exhibit various skeletal and craniofacial malformations.
In spermatocytes, Nipbl/Mau2 (Montrer KIAA0892 Protéines) then relocalises to chromocenters, whereas in oocytes it remains bound to chromosomal axes throughout prophase to dictyate arrest.
Reduction of Nipbl is associated with Cornelia de Lange Syndrome.
Mice heterozygous for a gene-trap mutation in Nipbl were produced and exhibited defects characteristic of Cornelia de Lange Syndrome.
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene.
, nipped-B-like protein
, sister chromatid cohesion 2 homolog
, Nipped-B homolog
, sister chromatid cohesion establishment factor 2
, Nipped-B homolog (Drosophila)
, nipped-B like a
, nipped-B-like protein B
, nipped-B-like protein-like
, delangin homolog
, LOW QUALITY PROTEIN: nipped-B-like protein