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Article

Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome.

Cell reports - 31 Jul 2018

Guner-Ataman Burcu, González-Rosa Juan Manuel, Shah Harsh N, Butty Vincent L, Jeffrey Spencer, Abrial Maryline, Boyer Laurie A, Burns C Geoffrey, Burns Caroline E

Abstract excerpt

Microdeletions involving TBX1 result in variable congenital malformations known collectively as 22q11.2 deletion syndrome (22q11.2DS). Tbx1-deficient mice and zebrafish recapitulate several disease phenotypes, including pharyngeal arch artery (PAA), head muscle (HM), and cardiac outflow tract (OFT) deficiencies. In zebrafish, these structures arise from nkx2.5+ progenitors in pharyngeal arches 2-6. Because...

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Identifiers

PMID: 30067987
DOI: 10.1016/j.celrep.2018.06.117
PMCID: PMC6261257

Genes

TBX1

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Research trail→

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Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome.PMID 30067987Read ↗

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.Semantic proximity Read ↗

Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.Semantic proximity Read ↗

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.Semantic proximity Read ↗

<i>Tbx1</i>expression in pharyngeal epithelia is necessary for pharyngeal arch artery developmentSemantic proximity Read ↗

Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of masticationSemantic proximity Read ↗

Single cell transcriptomics uncovers a non-autonomous <i>Tbx1</i> -dependent genetic program controlling cardiac neural crest cell deployment and progressionSemantic proximity Read ↗

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.Semantic proximity Read ↗

Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryoSemantic proximity Read ↗

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.Semantic proximity Read ↗

Unique developmental trajectories and genetic regulation of ventricular and outflow tract progenitors in the zebrafish second heart fieldSemantic proximity Read ↗

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndromeSemantic proximity Read ↗

Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesisSemantic proximity Read ↗

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