Talk:Cardiovascular System - Heart Valve Development: Difference between revisions
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===Cardiac-specific transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development=== | |||
Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4006-11. Epub 2011 Feb 17. | |||
Moskowitz IP, Wang J, Peterson MA, Pu WT, Mackinnon AC, Oxburgh L, Chu GC, Sarkar M, Berul C, Smoot L, Robertson EJ, Schwartz R, Seidman JG, Seidman CE. | |||
Departments of Pediatrics and Pathology, University of Chicago, Chicago, IL 60637. | |||
Abstract | |||
We report that the dominant human missense mutations G303E and G296S in GATA4, a cardiac-specific transcription factor gene, cause atrioventricular septal defects and valve abnormalities by disrupting a signaling cascade involved in endocardial cushion development. These GATA4 missense mutations, but not a mutation causing secundum atrial septal defects (S52F), demonstrated impaired protein interactions with SMAD4, a transcription factor required for canonical bone morphogenetic protein/transforming growth factor-β (BMP/TGF-β) signaling. Gata4 and Smad4 genetically interact in vivo: atrioventricular septal defects result from endothelial-specific Gata4 and Smad4 compound haploinsufficiency. Endothelial-specific knockout of Smad4 caused an absence of valve-forming activity: Smad4-deficient endocardium was associated with acellular endocardial cushions, absent epithelial-to-mesenchymal transformation, reduced endocardial proliferation, and loss of Id2 expression in valve-forming regions. We show that Gata4 and Smad4 cooperatively activated the Id2 promoter, that human GATA4 mutations abrogated this activity, and that Id2 deficiency in mice could cause atrioventricular septal defects. We suggest that one determinant of the phenotypic spectrum caused by human GATA4 mutations is differential effects on GATA4/SMAD4 interactions required for endocardial cushion development. | |||
PMID: 21330551 | |||
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http://onlinelibrary.wiley.com/doi/10.1002/dvdy.22512/abstract | http://onlinelibrary.wiley.com/doi/10.1002/dvdy.22512/abstract | ||
==2010== | ==2010== | ||
Revision as of 22:26, 29 March 2011
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Cite this page: Hill, M.A. (2024, May 3) Embryology Cardiovascular System - Heart Valve Development. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Cardiovascular_System_-_Heart_Valve_Development |
2011
Cardiac-specific transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development
Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4006-11. Epub 2011 Feb 17.
Moskowitz IP, Wang J, Peterson MA, Pu WT, Mackinnon AC, Oxburgh L, Chu GC, Sarkar M, Berul C, Smoot L, Robertson EJ, Schwartz R, Seidman JG, Seidman CE.
Departments of Pediatrics and Pathology, University of Chicago, Chicago, IL 60637.
Abstract We report that the dominant human missense mutations G303E and G296S in GATA4, a cardiac-specific transcription factor gene, cause atrioventricular septal defects and valve abnormalities by disrupting a signaling cascade involved in endocardial cushion development. These GATA4 missense mutations, but not a mutation causing secundum atrial septal defects (S52F), demonstrated impaired protein interactions with SMAD4, a transcription factor required for canonical bone morphogenetic protein/transforming growth factor-β (BMP/TGF-β) signaling. Gata4 and Smad4 genetically interact in vivo: atrioventricular septal defects result from endothelial-specific Gata4 and Smad4 compound haploinsufficiency. Endothelial-specific knockout of Smad4 caused an absence of valve-forming activity: Smad4-deficient endocardium was associated with acellular endocardial cushions, absent epithelial-to-mesenchymal transformation, reduced endocardial proliferation, and loss of Id2 expression in valve-forming regions. We show that Gata4 and Smad4 cooperatively activated the Id2 promoter, that human GATA4 mutations abrogated this activity, and that Id2 deficiency in mice could cause atrioventricular septal defects. We suggest that one determinant of the phenotypic spectrum caused by human GATA4 mutations is differential effects on GATA4/SMAD4 interactions required for endocardial cushion development.
PMID: 21330551
Hemodynamic patterning of the avian atrioventricular valve
Dev Dyn. 2011 Jan;240(1):23-35.
Yalcin HC, Shekhar A, McQuinn TC, Butcher JT.
Department of Biomedical Engineering, Cornell University, Ithaca, New York 14853-7501, USA.
Abstract In this study, we develop an innovative approach to rigorously quantify the evolving hemodynamic environment of the atrioventricular (AV) canal of avian embryos. Ultrasound generated velocity profiles were imported into Micro-Computed Tomography generated anatomically precise cardiac geometries between Hamburger-Hamilton (HH) stages 17 and 30. Computational fluid dynamic simulations were then conducted and iterated until results mimicked in vivo observations. Blood flow in tubular hearts (HH17) was laminar with parallel streamlines, but strong vortices developed simultaneous with expansion of the cushions and septal walls. For all investigated stages, highest wall shear stresses (WSS) are localized to AV canal valve-forming regions. Peak WSS increased from 19.34 dynes/cm(2) at HH17 to 287.18 dynes/cm(2) at HH30, but spatiotemporally averaged WSS became 3.62 dynes/cm(2) for HH17 to 9.11 dynes/cm(2) for HH30. Hemodynamic changes often preceded and correlated with morphological changes. These results establish a quantitative baseline supporting future hemodynamic analyses and interpretations.
© 2010 Wiley-Liss, Inc.
PMID: 21181939 http://www.ncbi.nlm.nih.gov/pubmed/21181939
http://onlinelibrary.wiley.com/doi/10.1002/dvdy.22512/abstract
2010
Regulation of heart valve morphogenesis by Eph receptor ligand, ephrin-A1
http://onlinelibrary.wiley.com/doi/10.1002/dvdy.22458/full
Wnt signaling in heart valve development and osteogenic gene induction
Alfieri CM, Cheek J, Chakraborty S, Yutzey KE. Dev Biol. 2010 Feb 15;338(2):127-35. Epub 2009 Dec 1. PMID: 19961844
2009
Heart valve development: regulatory networks in development and disease
Combs MD, Yutzey KE. Circ Res. 2009 Aug 28;105(5):408-21. Review. PMID: 19713546
Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation
Araki T, Chan G, Newbigging S, Morikawa L, Bronson RT, Neel BG. Proc Natl Acad Sci U S A. 2009 Mar 24;106(12):4736-41. Epub 2009 Feb 27. PMID: 19251646
2008
Physiol Genomics. 2008 Sep 17;35(1):75-85. Epub 2008 Jul 8.
Chakraborty S, Cheek J, Sakthivel B, Aronow BJ, Yutzey KE.
Division of Molecular Cardiovascular Biology, Cincinnati Children's Medical Center, Cincinnati, Ohio 45229, USA. Abstract The atrioventricular (AV) valves of the heart develop from undifferentiated mesenchymal endocardial cushions, which later mature into stratified valves with diversified extracellular matrix (ECM). Because the mature valves express genes associated with osteogenesis and exhibit disease-associated calcification, we hypothesized the existence of shared regulatory pathways active in developing AV valves and in bone progenitor cells. To define gene regulatory programs of valvulogenesis relative to osteoblast progenitors, we undertook Affymetrix gene expression profiling analysis of murine embryonic day (E)12.5 AV endocardial cushions compared with E17.5 AV valves (mitral and tricuspid) and with preosteoblast MC3T3-E1 (subclone4) cells. Overall, MC3T3 cells were significantly more similar to E17.5 valves than to E12.5 cushions, supporting the hypothesis that valve maturation involves the expression of many genes also expressed in osteoblasts. Several transcription factors characteristic of mesenchymal and osteoblast precursor cells, including Twist1, are predominant in E12.5 cushion. Valve maturation is characterized by differential regulation of matrix metalloproteinases and their inhibitors as well as complex collagen gene expression. Among the most highly enriched genes during valvulogenesis were members of the small leucine-rich proteoglycan (SLRP) family including Asporin, a known negative regulator of osteoblast differentiation and mineralization. Together, these data support shared gene expression profiles of the developing valves and osteoblast bone precursor cells in normal valve development and homeostasis with potential functions in calcific valve disease.
PMID: 18612084
2007
Valvulogenesis: the moving target
Philos Trans R Soc Lond B Biol Sci. 2007 Aug 29;362(1484):1489-503.
Butcher JT, Markwald RR.
Department of Biomedical Engineering, 270 Olin Hall, Cornell University, Ithaca, NY 14853, USA. jtb47@cornell.edu Abstract Valvulogenesis is an extremely complex process by which a fragile gelatinous matrix is populated and remodelled during embryonic development into thin fibrous leaflets capable of maintaining unidirectional flow over a lifetime. This process occurs during exposure to constantly changing haemodynamic forces, with a success rate of approximately 99%. Defective valvulogenesis results in impaired cardiac function and lifelong complications. This review integrates what is known about the roles of genetics and mechanics in the development of valves and how changes in either result in impaired morphogenesis. It is hoped that appropriate developmental cues and phenotypic endpoints could help engineers and clinicians in their efforts to regenerate living valve alternatives.
PMID: 17569640
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2440410/?tool=pubmed
http://rstb.royalsocietypublishing.org/content/362/1484/1489.long
Signal transduction in early heart development (II): ventricular chamber specification, trabeculation, and heart valve formation
Exp Biol Med (Maywood). 2007 Jul;232(7):866-80.
Wagner M, Siddiqui MA.
Department of Anatomy and Cell Biology, State University of New York Downstate Medical Center, 450 Clarkson Avenue, Brooklyn, NY 11203. michael.wagner@downstate.edu Abstract The formation of a four-chambered heart with ventricular chambers aligned in a left-right orientation begins with the rightward looping of the linear heart tube in accordance with the left-right embryonic axis. The functional specification of the ventricular chambers in the looped heart occurs with the formation of a trabeculated myocardium along the outer curvature of the realigned heart tube. Two major signal transduction pathways are involved in this process, the retinoic acid and neuregulin signaling pathways, with the retinoic acid pathway also participating in rightward heart tube looping. With the establishment of the atrial and ventricular chambers, maintenance of a unidirectional flow of blood between the two chambers must be ensured. To achieve this, heart valves develop at the atrioventricular juncture. This process begins with formation of endocardial cushions, the primordia of heart valves, and ends with formation of heart valve leaflets. Underlying this process is a complex network of signal transduction pathways that mediate communication between the endocardial and myocardial cell layers to form the endocardial cushions and nascent heart valve. Some of the signaling molecules involved are vascular endothelial growth factor, Wnts, bone morphogenetic proteins, epidermal growth factor, hyaluronic acid, neurofibromin, and calcium.
PMID: 17609502
