ArticleHuman molecular genetics2016
Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.International journal of molecular sciences · 2026Review
- A patterned human primitive heart organoid model generated by pluripotent stem cell self-organization.Nature communications · 2023Article
- The Tbx20-TLE interaction is essential for the maintenance of the second heart field.Development (Cambridge, England) · 2023Article
- Proprotein Convertase Subtilisin/Kexin 6 in Cardiovascular Biology and Disease.International journal of molecular sciences · 2022Review
- DNA Methylation Levels of theBiology · 2022Article
- Disrupting Osr1 expression promoted hepatic steatosis and inflammation induced by high-fat diet in the mouse model.PloS one · 2022Article
- Osr1 regulates hepatic inflammation and cell survival in the progression of non-alcoholic fatty liver disease.Laboratory investigation; a journal of technical methods and pathology · 2021Article
- Hypermethylation-mediated down-regulation of lncRNA TBX5-AS1:2 in Tetralogy of Fallot inhibits cell proliferation by reducing TBX5 expression.Journal of cellular and molecular medicine · 2020Article
- Maternal diet intervention before pregnancy primes offspring lipid metabolism in liver.Laboratory investigation; a journal of technical methods and pathology · 2020Article
- Analyzing Functional Pathways and constructing gene-gene network for Narcolepsy based on candidate genes.International journal of medical sciences · 2020Article
- Gene-by-gene interactions associated with the risk of conotruncal heart defects.Molecular genetics & genomic medicine · 2020Article
- Development and evolution of the metazoan heart.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Review
- Gata4 regulates hedgehog signaling and Gata6 expression for outflow tract development.PLoS genetics · 2019Article
- The oncoprotein TBX3 is controlling severity in experimental arthritis.Arthritis research & therapy · 2019Article
- Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family.Current medical science · 2018Article
- Electrical disorders in atrial septal defect: genetics and heritability.Journal of thoracic disease · 2018Review
- Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.PLoS genetics · 2017Article
- Osr1 functions downstream of Hedgehog pathway to regulate foregut development.Developmental biology · 2017Article
- Fungal microbiota dysbiosis in IBD.Gut · 2017Article
- A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases.Scientific reports · 2017Article
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Authors and funding
10 authors at 7 institutions in 3 countries.
Funding
Abstract
Atrial septal defects (ASDs) are a common human congenital heart disease (CHD) that can be induced by genetic abnormalities. Our previous studies have demonstrated a genetic interaction between Tbx5 and Osr1 in the second heart field (SHF) for atrial septation. We hypothesized that Osr1 and Tbx5 share a common signaling networking and downstream targets for atrial septation. To identify this molecular networks, we acquired the RNA-Seq transcriptome data from the posterior SHF of wild-type, Tbx5(+/) (-), Osr1(+/-), Osr1(-/-) and Tbx5(+/-)/Osr1(+/-) mutant embryos. Gene set analysis was used to identify the Kyoto Encyclopedia of Genes and Genomes pathways that were affected by the doses of Tbx5 and Osr1. A gene network module involving Tbx5 and Osr1 was identified using a non-parametric distance metric, distance correlation. A subset of 10 core genes and gene-gene interactions in the network module were validated by gene expression alterations in posterior second heart field (pSHF) of Tbx5 and Osr1 transgenic mouse embryos, a time-course gene expression change during P19CL6 cell differentiation. Pcsk6 was one of the network module genes that were linked to Tbx5. We validated the direct regulation of Tbx5 on Pcsk6 using immunohistochemical staining of pSHF, ChIP-quantitative polymerase chain reaction and luciferase reporter assay. Importantly, we identified Pcsk6 as a novel gene associated with ASD via a human genotyping study of an ASD family. In summary, our study implicated a gene network involving Tbx5, Osr1 and Pcsk6 interaction in SHF for atrial septation, providing a molecular framework for understanding the role of Tbx5 in CHD ontogeny.
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