ArticleNucleic acids research2010
Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
Article in Nucleic acids research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- Article
- Cohesin mutations and chromatin changes in cancer.International journal of cancer · 2026Review
- Article
- α-Kleisin subunit of cohesin preserves the genome integrity of embryonic stem cells.BMB reports · 2023Article
- Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.Frontiers in pediatrics · 2022Article
- Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.International journal of molecular sciences · 2020Review
- Review
- Decreased cohesin in the brain leads to defective synapse development and anxiety-related behavior.The Journal of experimental medicine · 2017Article
- Sequencing Overview of Ewing Sarcoma: A Journey across Genomic, Epigenomic and Transcriptomic Landscapes.International journal of molecular sciences · 2015Review
- Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I.Chromosoma · 2014Article
- Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms.Nature genetics · 2013Article
- Methylation profiling of serum DNA from hepatocellular carcinoma patients using an Infinium Human Methylation 450 BeadChip.Hepatology international · 2013Article
- Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene.Journal of neurodevelopmental disorders · 2013Article
- High-throughput DNA methylation datasets for evaluating false discovery rate methodologies.Computational statistics & data analysis · 2012Article
- Characterization of DNA methylation and its association with other biological systems in lymphoblastoid cell lines.Genomics · 2012Article
- NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Batch effect correction for genome-wide methylation data with Illumina Infinium platform.BMC medical genomics · 2011Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
The cohesin complex has recently been shown to be a key regulator of eukaryotic gene expression, although the mechanisms by which it exerts its effects are poorly understood. We have undertaken a genome-wide analysis of DNA methylation in cohesin-deficient cell lines from probands with Cornelia de Lange syndrome (CdLS). Heterozygous mutations in NIPBL, SMC1A and SMC3 genes account for ∼65% of individuals with CdLS. SMC1A and SMC3 are subunits of the cohesin complex that controls sister chromatid cohesion, whereas NIPBL facilitates cohesin loading and unloading. We have examined the methylation status of 27 578 CpG dinucleotides in 72 CdLS and control samples. We have documented the DNA methylation pattern in human lymphoblastoid cell lines (LCLs) as well as identified specific differential DNA methylation in CdLS. Subgroups of CdLS probands and controls can be classified using selected CpG loci. The X chromosome was also found to have a unique DNA methylation pattern in CdLS. Cohesin preferentially binds to hypo-methylated DNA in control LCLs, whereas the differential DNA methylation alters cohesin binding in CdLS. Our results suggest that in addition to DNA methylation multiple mechanisms may be involved in transcriptional regulation in human cells and in the resultant gene misexpression in CdLS.
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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.