ArticlePLoS genetics2019
Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS.JCI insight · 2026Article
- Article
- Paxillin is crucial for thymus and parathyroid development by regulating the architecture of the third pharyngeal pouch endoderm.Cellular and molecular life sciences : CMLS · 2026Article
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Thymus Ontogeny and Development.Advances in experimental medicine and biology · 2025Review
- Topoisomerase 1 is required for the development and function of thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Molecular Pathways and Animal Models of Semilunar Valve and Aortic Arch Anomalies.Advances in experimental medicine and biology · 2024Review
- Sensory cells in tunicates: insights into mechanoreceptor evolution.Frontiers in cell and developmental biology · 2024Review
- Foxi3Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
- Human thymus in health and disease: Recent advances in diagnosis and biology.Seminars in immunology · 2023Review
- Article
- FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.The Journal of allergy and clinical immunology · 2022Article
- Inborn errors of immunity associated with defects of thymic development.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022Review
- Integration of single-cell transcriptomes and chromatin landscapes reveals regulatory programs driving pharyngeal organ development.Nature communications · 2022Article
- Morphogenesis of the Mammalian Aortic Arch Arteries.Frontiers in cell and developmental biology · 2022Article
- Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm.Nature communications · 2021Article
- Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype.BMC developmental biology · 2021Article
- Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.Journal of clinical immunology · 2021Review
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Authors and funding
2 authors at 1 institution in 1 country.
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Abstract
We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to individual arches, genetically interact. We found that all Tbx1+/-;Foxi3+/- double heterozygous mouse embryos had thymus and parathyroid gland defects, similar to those in 22q11.2DS patients. We then examined Tbx1 and Foxi3 heterozygous, null as well as conditional Tbx1Cre and Sox172A-iCre/+ null mutant embryos. While Tbx1Cre/+;Foxi3f/f embryos had absent thymus and parathyroid glands, Foxi3-/- and Sox172A-iCre/+;Foxi3f/f endoderm conditional mutant embryos had in addition, interrupted aortic arch type B and retroesophageal origin of the right subclavian artery, which are all features of 22q11.2DS. Tbx1Cre/+;Foxi3f/f embryos had failed invagination of the third pharyngeal pouch with greatly reduced Gcm2 and Foxn1 expression, thereby explaining the absence of thymus and parathyroid glands. Immunofluorescence on tissue sections with E-cadherin and ZO-1 antibodies in wildtype mouse embryos at E8.5-E10.5, revealed that multilayers of epithelial cells form where cells are invaginating as a normal process. We noted that excessive multilayers formed in Foxi3-/-, Sox172A-iCre/+;Foxi3f/f as well as Tbx1 null mutant embryos where invagination should have occurred. Several genes expressed in the PA epithelia were downregulated in both Tbx1 and Foxi3 null mutant embryos including Notch pathway genes Jag1, Hes1, and Hey1, suggesting that they may, along with other genes, act downstream to explain the observed genetic interaction. We found Alcam and Fibronectin extracellular matrix proteins were reduced in expression in Foxi3 null but not Tbx1 null embryos, suggesting that some, but not all of the downstream mechanisms are shared.
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