ArticlePLoS genetics2015
Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.Genetics · 2023Article
- DecreasingScience advances · 2022Article
- Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Journal of medical genetics · 2020Review
- The role of protein complexes in human genetic disease.Protein science : a publication of the Protein Society · 2019Review
- The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes.Cell death & disease · 2019Article
- The Many Roles of Cohesin in Drosophila Gene Transcription.Trends in genetics : TIG · 2019Review
- Intellectual disability and autism spectrum disorders 'on the fly': insights fromDisease models & mechanisms · 2019Review
- A Cut/cohesin axis alters the chromatin landscape to facilitate neuroblast death.Development (Cambridge, England) · 2019Article
- Cohesin occupancy and composition at enhancers and promoters are linked to DNA replication origin proximity inGenome research · 2019Article
- Born to run: control of transcription elongation by RNA polymerase II.Nature reviews. Molecular cell biology · 2018Review
- Brca2, Pds5 and Wapl differentially control cohesin chromosome association and function.PLoS genetics · 2018Article
- NIPBLScientific reports · 2018Article
- Polycomb repressive complex 1 modifies transcription of active genes.Science advances · 2017Article
- Behavioral and psychiatric manifestations in Cornelia de Lange syndrome.Current opinion in psychiatry · 2017Review
- The Expression of Antibiotic Resistance Methyltransferase Correlates with mRNA Stability Independently of Ribosome Stalling.Antimicrobial agents and chemotherapy · 2016Article
- Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes.Molecular syndromology · 2016Review
- Structural Insights into Ring Formation of Cohesin and Related Smc Complexes.Trends in cell biology · 2016Review
- Drosophila TDP-43 RNA-Binding Protein Facilitates Association of Sister Chromatid Cohesion Proteins with Genes, Enhancers and Polycomb Response Elements.PLoS genetics · 2016Article
- Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.PLoS biology · 2016Article
- Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.American journal of medical genetics. Part C, Seminars in medical genetics · 2016Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
Abstract
Individuals with Cornelia de Lange Syndrome (CdLS) display diverse developmental deficits, including slow growth, multiple limb and organ abnormalities, and intellectual disabilities. Severely-affected individuals most often have dominant loss-of-function mutations in the Nipped-B-Like (NIPBL) gene, and milder cases often have missense or in-frame deletion mutations in genes encoding subunits of the cohesin complex. Cohesin mediates sister chromatid cohesion to facilitate accurate chromosome segregation, and NIPBL is required for cohesin to bind to chromosomes. Individuals with CdLS, however, do not display overt cohesion or segregation defects. Rather, studies in human cells and model organisms indicate that modest decreases in NIPBL and cohesin activity alter the transcription of many genes that regulate growth and development. Sister chromatid cohesion factors, including the Nipped-B ortholog of NIPBL, are also critical for gene expression and development in Drosophila melanogaster. Here we describe how a modest reduction in Nipped-B activity alters growth and neurological function in Drosophila. These studies reveal that Nipped-B heterozygous mutant Drosophila show reduced growth, learning, and memory, and altered circadian rhythms. Importantly, the growth deficits are not caused by changes in systemic growth controls, but reductions in cell number and size attributable in part to reduced expression of myc (diminutive) and other growth control genes. The learning, memory and circadian deficits are accompanied by morphological abnormalities in brain structure. These studies confirm that Drosophila Nipped-B mutants provide a useful model for understanding CdLS, and provide new insights into the origins of birth defects.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.