GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:18583714

From GONUTS
Jump to: navigation, search
Citation

Théveniau-Ruissy, M, Dandonneau, M, Mesbah, K, Ghez, O, Mattei, MG, Miquerol, L and Kelly, RG (2008) The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning. Circ. Res. 103:142-8

Abstract

TBX1, encoding a T-box containing transcription factor, is the major candidate gene for del22q11.2 or DiGeorge syndrome, characterized by craniofacial and cardiovascular defects including tetralogy of Fallot and common arterial trunk. Mice lacking Tbx1 have severe defects in the development of pharyngeal derivatives including cardiac progenitor cells of the second heart field that contribute to the arterial pole of the heart. The outflow tract of Tbx1 mutant embryos is short and narrow resulting in common arterial trunk. Here we show by a series of genetic crosses using transgene markers of second heart field derived myocardium and coronary endothelial cells that a subdomain of myocardium normally observed at the base of the pulmonary trunk is reduced and malpositioned in Tbx1 mutant hearts. This defect is associated with anomalous coronary artery patterning. Both right and left coronary ostia form predominantly at the right/ventral sinus in mutant hearts, proximal coronary arteries coursing across the normally coronary free ventral region of the heart. We have identified Semaphorin3c as a Tbx1-dependent gene expressed in subpulmonary myocardium. Our results implicate second heart field development in coronary artery patterning and provide new insights into the association between conotruncal defects and coronary artery anomalies.

Links

PubMed Online version:10.1161/CIRCRESAHA.108.172189

Keywords

Animals; Coronary Vessel Anomalies/genetics; Coronary Vessels/embryology; Coronary Vessels/physiopathology; DiGeorge Syndrome/genetics; DiGeorge Syndrome/physiopathology; Disease Models, Animal; Gene Expression Regulation, Developmental/physiology; Heart/embryology; Mice; Mice, Knockout; Mice, Transgenic; Pulmonary Artery/embryology; Pulmonary Artery/physiopathology; Regional Blood Flow/physiology; Semaphorins/genetics; T-Box Domain Proteins/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:TBX1

acts_upstream_of_or_within

GO:0003151: outflow tract morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2179190

P

Seeded From UniProt

complete

MOUSE:TBX1

acts_upstream_of_or_within

GO:0060982: coronary artery morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2179190

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.