ArticleHuman molecular genetics2010
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.
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79 citing papers in PubMed, 152 citations in OpenAlex.
- Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.Circulation research · 2014Trial
- Self-assembled chamber-like cardiac organoids for modeling cardiac chamber formation and cardiotoxicity assessment.Nature communications · 2026Article
- ETS‑1/ETS‑2 transcription factors in CVD (Review).International journal of molecular medicine · 2026Review
- A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype.Clinical dysmorphology · 2026Article
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- Discovery ofDiagnostics (Basel, Switzerland) · 2025Article
- FLI1 and GATA1 governHaematologica · 2025Article
- Reactivation of an embryonic cardiac neural crest transcriptional profile during zebrafish heart regeneration.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Hypoplastic left heart syndrome-a scoping review.Translational pediatrics · 2025Review
- Jacobsen syndrome associated with Shone's complex: a case report.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2025Article
- ETS1, a Target Gene of the EWSR1::FLI1 Fusion Oncoprotein, Regulates the Expression of the Focal Adhesion Protein TENSIN3.Molecular cancer research : MCR · 2024Article
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- Neural Crest.Advances in experimental medicine and biology · 2024Review
- ETS1, a target gene of the EWSR1::FLI1 fusion oncoprotein, regulates the expression of the focal adhesion protein TENSIN3.bioRxiv : the preprint server for biology · 2023Article
- Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development.Developmental cell · 2023Article
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- Comparative genomics analyses reveal sequence determinants underlying interspecies variations in injury-responsive enhancers.BMC genomics · 2023Article
- Use of Frogs as a Model to Study the Etiology of HLHS.Journal of cardiovascular development and disease · 2023Article
- Detection of Novel Pathogenic Variants in Two Families with Recurrent Fetal Congenital Heart Defects.Pharmacogenomics and personalized medicine · 2023Article
19 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 8 institutions in 2 countries.
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Abstract
Congenital heart defects comprise the most common form of major birth defects, affecting 0.7% of all newborn infants. Jacobsen syndrome (11q-) is a rare chromosomal disorder caused by deletions in distal 11q. We have previously determined that a wide spectrum of the most common congenital heart defects occur in 11q-, including an unprecedented high frequency of hypoplastic left heart syndrome (HLHS). We identified an approximately 7 Mb 'cardiac critical region' in distal 11q that contains a putative causative gene(s) for congenital heart disease. In this study, we utilized chromosomal microarray mapping to characterize three patients with 11q- and congenital heart defects that carry interstitial deletions overlapping the 7 Mb cardiac critical region. We propose that this 1.2 Mb region of overlap harbors a gene(s) that causes at least a subset of the congenital heart defects that occur in 11q-. We demonstrate that one gene in this region, ETS-1 (a member of the ETS family of transcription factors), is expressed in the endocardium and neural crest during early mouse heart development. Gene-targeted deletion of ETS-1 in mice in a C57/B6 background causes, with high penetrance, large membranous ventricular septal defects and a bifid cardiac apex, and less frequently a non-apex-forming left ventricle (one of the hallmarks of HLHS). Our results implicate an important role for the ETS-1 transcription factor in mammalian heart development and should provide important insights into some of the most common forms of congenital heart disease.
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