The Functional Diversity of Essential Genes Required for Mammalian Cardiac Development

Overview

Journal Genesis

Specialties Biology
Molecular Biology

Date 2014 May 29

PMID 24866031

Citations 12

Authors

Christopher Clowes

Michael G S Boylan

Liam A Ridge

Emma Barnes

Jayne A Wright

Kathryn E Hentges

Affiliations

Soon will be listed here.

Abstract

Genes required for an organism to develop to maturity (for which no other gene can compensate) are considered essential. The continuing functional annotation of the mouse genome has enabled the identification of many essential genes required for specific developmental processes including cardiac development. Patterns are now emerging regarding the functional nature of genes required at specific points throughout gestation. Essential genes required for development beyond cardiac progenitor cell migration and induction include a small and functionally homogenous group encoding transcription factors, ligands and receptors. Actions of core cardiogenic transcription factors from the Gata, Nkx, Mef, Hand, and Tbx families trigger a marked expansion in the functional diversity of essential genes from midgestation onwards. As the embryo grows in size and complexity, genes required to maintain a functional heartbeat and to provide muscular strength and regulate blood flow are well represented. These essential genes regulate further specialization and polarization of cell types along with proliferative, migratory, adhesive, contractile, and structural processes. The identification of patterns regarding the functional nature of essential genes across numerous developmental systems may aid prediction of further essential genes and those important to development and/or progression of disease.

Citing Articles

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References

Li J, Zhu X, Chen M, Cheng L, Zhou D, Lu M . Myocardin-related transcription factor B is required in cardiac neural crest for smooth muscle differentiation and cardiovascular development. Proc Natl Acad Sci U S A. 2005; 102(25):8916-21. PMC: 1157054. DOI: 10.1073/pnas.0503741102. View

Vong L, Bi W, OConnor-Halligan K, Li C, Cserjesi P, Schwarz J . MEF2C is required for the normal allocation of cells between the ventricular and sinoatrial precursors of the primary heart field. Dev Dyn. 2006; 235(7):1809-21. DOI: 10.1002/dvdy.20828. View

Kumar A, Crawford K, Close L, Madison M, Lorenz J, Doetschman T . Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin. Proc Natl Acad Sci U S A. 1997; 94(9):4406-11. PMC: 20735. DOI: 10.1073/pnas.94.9.4406. View

Jenkins S, Hutson D, Kubalak S . Analysis of the proepicardium-epicardium transition during the malformation of the RXRalpha-/- epicardium. Dev Dyn. 2005; 233(3):1091-101. PMC: 3094707. DOI: 10.1002/dvdy.20393. View

McFadden D, Barbosa A, Richardson J, Schneider M, Srivastava D, Olson E . The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner. Development. 2004; 132(1):189-201. DOI: 10.1242/dev.01562. View

Wu B, Wang Y, Lui W, Langworthy M, Tompkins K, Hatzopoulos A . Nfatc1 coordinates valve endocardial cell lineage development required for heart valve formation. Circ Res. 2011; 109(2):183-92. PMC: 3132827. DOI: 10.1161/CIRCRESAHA.111.245035. View

Perez-Pomares J, de la Pompa J . Signaling during epicardium and coronary vessel development. Circ Res. 2011; 109(12):1429-42. DOI: 10.1161/CIRCRESAHA.111.245589. View

Tam P, Behringer R . Mouse gastrulation: the formation of a mammalian body plan. Mech Dev. 1998; 68(1-2):3-25. DOI: 10.1016/s0925-4773(97)00123-8. View

Nishii K, Morimoto S, Minakami R, Miyano Y, Hashizume K, Ohta M . Targeted disruption of the cardiac troponin T gene causes sarcomere disassembly and defects in heartbeat within the early mouse embryo. Dev Biol. 2008; 322(1):65-73. DOI: 10.1016/j.ydbio.2008.07.007. View

10.

Binette F, CRAVENS J, Kahoussi B, Haudenschild D, GOETINCK P . Link protein is ubiquitously expressed in non-cartilaginous tissues where it enhances and stabilizes the interaction of proteoglycans with hyaluronic acid. J Biol Chem. 1994; 269(29):19116-22. View

11.

Dai Y, Cserjesi P, Markham B, Molkentin J . The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism. J Biol Chem. 2002; 277(27):24390-8. DOI: 10.1074/jbc.M202490200. View

12.

Zhang H, Bradley A . Mice deficient for BMP2 are nonviable and have defects in amnion/chorion and cardiac development. Development. 1996; 122(10):2977-86. DOI: 10.1242/dev.122.10.2977. View

13.

Kokubo H, Miyagawa-Tomita S, Nakazawa M, Saga Y, Johnson R . Mouse hesr1 and hesr2 genes are redundantly required to mediate Notch signaling in the developing cardiovascular system. Dev Biol. 2005; 278(2):301-9. DOI: 10.1016/j.ydbio.2004.10.025. View

14.

Wu H, Lee S, Gao J, Liu X, Iruela-Arispe M . Inactivation of erythropoietin leads to defects in cardiac morphogenesis. Development. 1999; 126(16):3597-605. DOI: 10.1242/dev.126.16.3597. View

15.

Sun X, Meyers E, Lewandoski M, Martin G . Targeted disruption of Fgf8 causes failure of cell migration in the gastrulating mouse embryo. Genes Dev. 1999; 13(14):1834-46. PMC: 316887. DOI: 10.1101/gad.13.14.1834. View

16.

Puskaric S, Schmitteckert S, Mori A, Glaser A, Schneider K, Bruneau B . Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart. Hum Mol Genet. 2010; 19(23):4625-33. PMC: 2972695. DOI: 10.1093/hmg/ddq393. View

17.

Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R . Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor. Nature. 1995; 378(6555):390-4. DOI: 10.1038/378390a0. View

18.

Mishina Y, Suzuki A, Ueno N, Behringer R . Bmpr encodes a type I bone morphogenetic protein receptor that is essential for gastrulation during mouse embryogenesis. Genes Dev. 1995; 9(24):3027-37. DOI: 10.1101/gad.9.24.3027. View

19.

Combs M, Yutzey K . Heart valve development: regulatory networks in development and disease. Circ Res. 2009; 105(5):408-21. PMC: 2777683. DOI: 10.1161/CIRCRESAHA.109.201566. View

20.

Tan H, Ge X, Xie L . Structural systems pharmacology: a new frontier in discovering novel drug targets. Curr Drug Targets. 2013; 14(9):952-8. DOI: 10.2174/1389450111314090003. View