ArticleNature genetics2011
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 158 papers, 1 of them a synthesis that pooled it.
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Who cites it
158 citing papers in PubMed, 1 synthesis or guideline pooled it, 255 citations in OpenAlex.
- Genotranscriptomic meta-analysis of the CHD family chromatin remodelers in human cancers - initial evidence of an oncogenic role for CHD7.Molecular oncology · 2017Pooled it
- ATRX Condensates as Candidate Organizers of Enhancer-Centered Nuclear Microenvironments in Neural Progenitors: A Hypothesis for Enhancer-Associated ATRX Function in Neural Progenitors.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Defective HNF1A hinders GLI3 processing favoring duodenal versus pancreatic fate, thus leading to intestinal elongation in vivo.Genes & development · 2026Article
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
- A novel cardiomyopathy phenotype linked to a CHD7 missense variant.Scientific reports · 2025Article
- SOX2-VSX2 Co-Occupancy Shapes Retinal Neurogenesis Through Dynamic Chromatin Regulation.bioRxiv : the preprint server for biology · 2025Article
- Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.Journal of human genetics · 2025Article
- A CHD8-TRRAP axis facilitates MYC and E2F target gene regulation in human neural stem cells.iScience · 2025Article
- Pan-cancer analysis of SOX2: Prognostic implications and potential as a therapeutic target in immune checkpoint modulation.Heliyon · 2025Article
- Nuclear Factor I Family Members are Key Transcription Factors Regulating Gene Expression.Molecular & cellular proteomics : MCP · 2025Article
- Sox2 interacts with Atoh1 and Huwe1 loci to regulate Atoh1 transcription and stability during hair cell differentiation.PLoS genetics · 2025Article
- SOX2-driven enhancer landscape defines the transcriptional architecture of retinogenesis.Development (Cambridge, England) · 2024Article
- CHARGE syndrome in a child with aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Identification of the DNA methylation signature of Mowat-Wilson syndrome.European journal of human genetics : EJHG · 2024Article
- Comprehensive Analysis of the Expression, Prognosis, and Immune Infiltrates for Chromodomain-Helicase-DNA-Binding Proteins in Breast Tumor.Asian Pacific journal of cancer prevention : APJCP · 2024Article
- CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- BRG1 establishes the neuroectodermal chromatin landscape to restrict dorsal cell fates.Science advances · 2024Article
- Neurodevelopmental functions of CHD8: new insights and questions.Biochemical Society transactions · 2024Review
- Targeting the SOX2/CDP protein complex with a peptide suppresses the malignant progression of esophageal squamous cell carcinoma.Cell death discovery · 2023Article
- The Genomic and Epigenomic Landscape of Double-Negative Metastatic Prostate Cancer.Cancer research · 2023Article
98 more citing papers are in PubMed but not listed here.
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19 authors at 5 institutions in 4 countries.
Funding
Abstract
The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts at other stages of development, as illustrated by the multiple organs affected in the anophthalmia syndrome caused by SOX2 mutations. Here we combined proteomic and genomic approaches to characterize gene regulation by Sox2 in neural stem cells. Chd7, a chromatin remodeling ATPase associated with CHARGE syndrome, was identified as a Sox2 transcriptional cofactor. Sox2 and Chd7 physically interact, have overlapping genome-wide binding sites and regulate a set of common target genes including Jag1, Gli3 and Mycn, genes mutated in Alagille, Pallister-Hall and Feingold syndromes, which show malformations also associated with SOX2 anophthalmia syndrome or CHARGE syndrome. Regulation of disease-associated genes by a Sox2-Chd7 complex provides a plausible explanation for several malformations associated with SOX2 anophthalmia syndrome or CHARGE syndrome. Indeed, we found that Chd7-haploinsufficient embryos showed severely reduced expression of Jag1 in the developing inner ear.
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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.