ArticleHuman molecular genetics2014
Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 39 citations in OpenAlex.
- Overview of Head Muscles with Special Emphasis on Extraocular Muscle Development.Advances in anatomy, embryology, and cell biology · 2023Article
- TBX1 regulates myogenic differentiation by activating the TGFβ-Smad2/3 pathway in myoblasts.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- The impact of Drew Noden's work on our understanding of craniofacial musculoskeletal integration.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Review
- Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.Journal of developmental biology · 2022Review
- Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm.Nature communications · 2021Article
- Suckling, Feeding, and Swallowing: Behaviors, Circuits, and Targets for Neurodevelopmental Pathology.Annual review of neuroscience · 2020Review
- Orofacial Muscles: Embryonic Development and Regeneration after Injury.Journal of dental research · 2020Review
- A single-cell transcriptional roadmap for cardiopharyngeal fate diversification.Nature cell biology · 2019Article
- Unique morphogenetic signatures define mammalian neck muscles and associated connective tissues.eLife · 2018Article
- Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2018Article
- Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome.Cell reports · 2018Article
- Novel adverse outcome pathways revealed by chemical genetics in a developing marine fish.eLife · 2017Article
- Mapping cellular processes in the mesenchyme during palatal development in the absence of Tbx1 reveals complex proliferation changes and perturbed cell packing and polarity.Journal of anatomy · 2016Article
- Hard to swallow: Developmental biological insights into pediatric dysphagia.Developmental biology · 2016Review
- Origin, Specification, and Plasticity of the Great Vessels of the Heart.Current biology : CB · 2015Article
- Regulation and evolution of cardiopharyngeal cell identity and behavior: insights from simple chordates.Current opinion in genetics & development · 2015Review
- Review
- TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome.Human molecular genetics · 2015Article
- A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.Human molecular genetics · 2015Article
- Clonal analysis reveals a common origin between nonsomite-derived neck muscles and heart myocardium.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Velo-cardio-facial/DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a congenital anomaly disorder characterized by craniofacial anomalies including velo-pharyngeal insufficiency, facial muscle hypotonia and feeding difficulties, in part due to hypoplasia of the branchiomeric muscles. Inactivation of both alleles of mouse Tbx1, encoding a T-box transcription factor, deleted on chromosome 22q11.2, results in reduction or loss of branchiomeric muscles. To identify downstream pathways, we performed gene profiling of microdissected pharyngeal arch one (PA1) from Tbx1(+/+) and Tbx1(-/-) embryos at stages E9.5 (somites 20-25) and E10.5 (somites 30-35). Basic helix-loop-helix (bHLH) transcription factors were reduced, while secondary heart field genes were increased in expression early and were replaced by an increase in expression of cellular stress response genes later, suggesting a change in gene expression patterns or cell populations. Lineage tracing studies using Mesp1(Cre) and T-Cre drivers showed that core mesoderm cells within PA1 were present at E9.5 but were greatly reduced by E10.5 in Tbx1(-/-) embryos. Using Tbx1(Cre) knock-in mice, we found that cells are lost due to apoptosis, consistent with increase in expression of cellular stress response genes at E10.5. To determine whether Tbx1 is required autonomously in the core mesoderm, we used Mesp1(Cre) and T-Cre mesodermal drivers in combination with inactivate Tbx1 and found reduction or loss of branchiomeric muscles from PA1. These mechanistic studies inform us that Tbx1 is required upstream of key myogenic genes needed for core mesoderm cell survival and fate, between E9.5 and E10.5, resulting in formation of the branchiomeric muscles.
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