Some Mice Feature 5th Pharyngeal Arch Arteries and Double-Lumen Aortic Arch Malformations

2012 ◽  
Vol 196 (1) ◽  
pp. 90-98 ◽  
Author(s):  
Stefan H. Geyer ◽  
Wolfgang J. Weninger
Keyword(s):  
Aortic Arch ◽  
Pharyngeal Arch ◽  
Double Lumen ◽  
Pharyngeal Arch Arteries

A genetic link between Tbx1 and fibroblast growth factor signaling

Development ◽  
2002 ◽  
Vol 129 (19) ◽  
pp. 4605-4611 ◽  
Author(s):  
Francesca Vitelli ◽  
Ilaria Taddei ◽  
Masae Morishima ◽  
Erik N. Meyers ◽  
Elizabeth A. Lindsay ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Expression Patterns ◽  
Pharyngeal Arch ◽  
Growth Factor Signaling ◽  
Expression Domain ◽  
Primary Defect ◽  
Genetic Link ◽  
Pharyngeal Endoderm ◽  
Pharyngeal Arch Arteries ◽  
Tbx1 Haploinsufficiency

Tbx1 haploinsufficiency causes aortic arch abnormalities in mice because of early growth and remodeling defects of the fourth pharyngeal arch arteries. The function of Tbx1 in the development of these arteries is probably cell non-autonomous, as the gene is not expressed in structural components of the artery but in the surrounding pharyngeal endoderm. We hypothesized that Tbx1 may trigger signals from the pharyngeal endoderm directed to the underlying mesenchyme. We show that the expression patterns of Fgf8 and Fgf10, which partially overlap with Tbx1 expression pattern, are altered in Tbx1–/– mutants. In particular, Fgf8 expression is abolished in the pharyngeal endoderm. To understand the significance of this finding for the pathogenesis of the mutant Tbx1 phenotype, we crossed Tbx1 and Fgf8 mutants. Double heterozygous Tbx1+/–;Fgf8+/– mutants present with a significantly higher penetrance of aortic arch artery defects than do Tbx1+/–;Fgf8+/+ mutants, while Tbx1+/+;Fgf8+/– animals are normal. We found that Fgf8 mutation increases the severity of the primary defect caused by Tbx1 haploinsufficiency, i.e. early hypoplasia of the fourth pharyngeal arch arteries, consistent with the time and location of the shared expression domain of the two genes. Hence, Tbx1 and Fgf8 interact genetically in the development of the aortic arch. Our data provide the first evidence of a genetic link between Tbx1 and FGF signaling, and the first example of a modifier of the Tbx1 haploinsufficiency phenotype. We speculate that the FGF8 locus might affect the penetrance of cardiovascular defects in individuals with chromosome 22q11 deletions involving TBX1.

scholarly journals Cell - ECM Interactions Play Multiple Essential Roles in Aortic Arch Development

2020 ◽  
Author(s):  
Michael Warkala ◽  
Dongying Chen ◽  
AnnJosette Ramirez ◽  
Ali Jubran ◽  
Michael J Schonning ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Developmental Stages ◽  
Lineage Tracing ◽  
Confocal Imaging ◽  
Pharyngeal Arch ◽  
Cellular Mechanisms ◽  
Integrin Α5β1 ◽  
Pharyngeal Arches ◽  
Heart Field ◽  
Pharyngeal Arch Arteries

Rationale: Defects in the morphogenesis of the 4th pharyngeal arch arteries (PAAs) give rise to lethal birth defects. Understanding genes and mechanisms regulating PAA formation will provide important insights into the etiology and treatments for congenital heart disease. Objective: Cell-ECM interactions play essential roles in the morphogenesis of PAAs and their derivatives, the aortic arch artery (AAA) and its major branches; however, their specific functions are not well-understood. Previously, we demonstrated that integrin α5β1 and fibronectin (Fn1) expressed in the Isl1 lineages regulate PAA formation. The objective of the current studies was to investigate cellular mechanisms by which integrin α5β1 and Fn1 regulate AAA morphogenesis. Methods and Results: Using temporal lineage tracing, whole-mount confocal imaging, and quantitative analysis of the second heart field (SHF) and endothelial cell (EC) dynamics, we show that the majority of PAA EC progenitors arise by E7.5 in the SHF and contribute to pharyngeal arch endothelium between E7.5 and E9.5. Consequently, SHF-derived ECs in the pharyngeal arches form a uniform plexus of small blood vessels, which remodels into the PAAs by 35 somites. The remodeling of the vascular plexus is orchestrated by signals dependent on the pharyngeal ECM microenvironment, extrinsic to the endothelium. Conditional ablation of integrin α5β1 or Fn1 in the Isl1 lineages showed that signaling by the ECM regulates AAA morphogenesis at multiple steps: 1) accumulation of SHF-derived ECs in the pharyngeal arches, 2) remodeling of the uniform EC plexus in the 4th arches into the PAAs; and 3) differentiation of neural crest-derived cells adjacent to the PAA endothelium into vascular smooth muscle cells. Conclusions: PAA formation is a multi-step process entailing dynamic contribution of SHF-derived ECs to pharyngeal arches, the remodeling of endothelial plexus into the PAAs, and the remodeling of the PAAs into the AAA and its major branches. Cell-ECM interactions regulated by integrin α5β1 and Fn1 play essential roles at each of these developmental stages.

scholarly journals Cell – ECM interactions play distinct and essential roles at multiple stages during the development of the aortic arch

2020 ◽  
Author(s):  
Michael Warkala ◽  
Dongying Chen ◽  
Ali Jubran ◽  
AnnJosette Ramirez ◽  
Michael Schonning ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Developmental Stages ◽  
Lineage Tracing ◽  
Confocal Imaging ◽  
Pharyngeal Arch ◽  
Cellular Mechanisms ◽  
Integrin Α5β1 ◽  
Pharyngeal Arches ◽  
Heart Field ◽  
Pharyngeal Arch Arteries

RationaleDefects in the morphogenesis of the 4th pharyngeal arch arteries (PAAs) give rise to lethal birth defects. Understanding genes and mechanisms regulating PAA formation will provide important insights into the etiology and treatments for congenital heart disease.ObjectiveCell-ECM interactions play essential roles in the morphogenesis of PAAs and their derivatives, the aortic arch artery (AAA) and its major branches; however, their specific functions are not well-understood. Previously, we demonstrated that integrin α5β1 and fibronectin (Fn1) expressed in the Isl1 lineages regulate PAA formation. The objective of these studies was to investigate cellular mechanisms by which integrin α5β1 and Fn1 regulate AAA morphogenesis.Methods and ResultsUsing temporal lineage tracing, whole-mount confocal imaging, and quantitative analysis of the second heart field (SHF) and endothelial cell (EC) dynamics, we show that the majority of PAA EC progenitors arise by E7.5 in the SHF and populate pharyngeal arch mesenchyme between E7.5 and E9.5. Consequently, SHF-derived ECs in the pharyngeal arches become organized into a uniform plexus of small blood vessels, which becomes remodeled into the PAAs between 31 – 35 somites. The remodeling of the vascular plexus is orchestrated by signals dependent on pharyngeal ECM microenvironment extrinsic to the endothelium. Conditional ablation of integrin α5β1 or Fn1 in the Isl1 lineages showed that signaling by the ECM regulates AAA morphogenesis at multiple steps: 1) the recruitment of the SHF-derived ECs into the pharyngeal arches, 2) the remodeling of the uniform EC plexus in the 4th arches into the PAAs; and 3) differentiation of neural crest-derived cells abutting the PAA endothelium into vascular smooth muscle cells.ConclusionsPAA formation is a multi-step process entailing dynamic contribution of SHF-derived ECs to pharyngeal arches, the remodeling of endothelial plexus into the PAAs, and the remodeling of the PAAs into the AAA and its major branches. Cell-ECM interactions regulated by integrin α5β1 and Fn1 play essential roles at each of these developmental stages.

How best to describe the pharyngeal arch arteries when the fifth arch does not exist?

2020 ◽  
Vol 30 (11) ◽  
pp. 1708-1710
Author(s):  
Robert H. Anderson ◽  
Simon D. Bamforth ◽  
Saurabh Kumar Gupta
Keyword(s):  
Aortic Arch ◽  
Human Fetus ◽  
Right Aortic Arch ◽  
Developmental Changes ◽  
Pharyngeal Arch ◽  
Pharyngeal Arches ◽  
Pharyngeal Arch Arteries ◽  
Collateral Channel

AbstractIn the accompanying article appearing in this issue of the Journal, Prabhu and his colleagues, from Bengalaru in India, describe their experience with patients having a right aortic arch. They discuss the fact that the anomalous arrangements they encountered can all be interpreted on the basis of the hypothetical double arch proposed by Edwards. They point to the fact that interpretation of the developmental changes underscoring the production of the double arch is currently confused by reference to the so-called Rathke diagram, in which six sets of arteries are shown extending through the mesenchyme of the pharyngeal arches. As the authors point out, Graham and his associates have now shown that the alleged fifth set of pharyngeal arches do not exist. Based on our own observations, we endorse this statement. It means that new explanations must now be provided for the lesions previously described on the basis of persistence of the alleged artery of the fifth pharyngeal arch. We have previously claimed to have observed such an artery in a human fetus. We now believe, on the basis of our latest findings, that our earlier observation is better explained on the basis of presence of a collateral channel. We suggest that the so-called “fifth arch arteries” are themselves then best explained either on the basis of existence of such collateral channels, or remodelling of the aortic sac, which is the manifold, during development, that gives rise to the pharyngeal arch arteries.

scholarly journals Foxc2 in pharyngeal arch mesenchyme is important for aortic arch artery remodelling and ventricular septum formation

2015 ◽  
Vol 36 (4) ◽  
pp. 235-245 ◽  
Author(s):  
Mohammad Khaja Mafij UDDIN ◽  
Wataru KIMURA ◽  
Tomoyuki ISHIKURA ◽  
Haruhiko KOSEKI ◽  
Nobuaki YOSHIDA ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Ventricular Septum ◽  
Pharyngeal Arch

scholarly journals Double-Lumen Aortic Arch: Persistence of the Fifth Aortic Arch

2016 ◽  
Vol 101 (5) ◽  
pp. e155-e156 ◽  
Author(s):  
Phillip S. Naimo ◽  
Maria del Carmen Vazquez-Alvarez ◽  
Yves d’Udekem ◽  
Bryn Jones ◽  
Igor E. Konstantinov
Keyword(s):  
Aortic Arch ◽  
Double Lumen

scholarly journals Balloon dilation of the stenotic fifth aortic arch in a newborn with double lumen aortic arch

Heart ◽  
2004 ◽  
Vol 90 (3) ◽  
pp. 245-245 ◽  
Author(s):  
K Suda ◽  
M Matsumura ◽  
M Matsumoto
Keyword(s):  
Aortic Arch ◽  
Balloon Dilation ◽  
Double Lumen
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