Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies
References
- Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002; 39(12): 1890–900.
- Winkleby M, Sundquist K, Cubbin C. Inequities in CHD incidence and case fatality by neighborhood deprivation. Am J Prev Med. 2007; 32(2): 97–106.
- Srivastava D. Making or breaking the heart: from lineage determination to morphogenesis. Cell. 2006; 126(6): 1037–48.
- Rasmussen TL, Ma Y, Park CY, Harriss J, Pierce SA, Dekker JD, et al. Smyd1 facilitates heart development by antagonizing oxidative and ER stress responses. PLoS One. 2015; 10(3): e0121765.
- Srivastava D, Olson EN. A genetic blueprint for cardiac development. Nature. 2000; 407(6081):221–6.
- Tsuchihashi T, Maeda J, Shin CH, Ivey KN, Black BL, Olson EN, et al. Hand2 function in second heart field progenitors is essential for cardiogenesis. Developmental Biology. 2011; 351(1): 62–9.
- Phan D, Rasmussen TL, Nakagawa O, McAnally J, Gottlieb PD, Tucker PW, et al. BOP, a regulator of right ventricular heart development, is a direct transcriptional target of MEF2C in the developing heart. Development. 2005; 132(11): 2669–78.
- Vong L, Bi W, O’Connor-Halligan KE, Li C, Cserjesi P, Schwarz JJ. MEF2C is required for the normal allocation of cells between the ventricular and sinoatrial precursors of the primary heart field. Developmental Dynamics. 2006; 235(7):1809–21.
- Takeuchi JK, Mileikovskaia M, Koshiba-Takeuchi K, Heidt AB, Mori AD, Arruda EP, et al. Tb×20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development. Development. 2005; 132(10): 2463–74.
- Huang RT, Wang J, Xue S, Qiu XB, Shi HY, Li RG, et al. TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus. Int J Med Sci. 2017; 14(4): 323–32.
- Lu CX, Wang W, Wang Q, Liu XY, Yang YQ. A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle. Pediatr Cardiol. 2018; 39(4): 794–804.
- Fan LL, Ding DB, Huang H, Chen YQ, Jin JY, Xia K, et al. A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient. Clin Chem Lab Med. 2019; 57(4): 532–9.
- Kassab K, Hariri H, Gharibeh L, Fahed AC, Zein M, El-Rassy I, et al. GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient. Mol Genet Genomic Med. 2016; 4(2): 160–71.
- Wang E, Nie Y, Fan X, Zheng Z, Hu S. Intronic Polymorphisms in Gene of Second Heart Field as Risk Factors for Human Congenital Heart Disease in a Chinese Population. DNA Cell Biol. 2019; 38(6): 521–31.
- Wang E, Wang Z, Liu S, Gu H, Gong D, Hua K, et al. Polymorphisms of VEGF, TGFbeta1, TGFbetaR2 and conotruncal heart defects in a Chinese population. Mol Biol Rep. 2014; 41(3): 1763–70.
- Topf A, Griffin HR, Glen E, Soemedi R, Brown DL, Hall D, et al. Functionally significant, rare transcription factor variants in tetralogy of Fallot. PLoS One. 2014; 9(8): e95453.
- Hempel M, Casar Tena T, Diehl T, Burczyk MS, Strom TM, Kubisch C, et al. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. Hum Genet. 2017; 136(3): 339–46.
- Edmondson DG, Lyons GE, Martin JF, Olson EN. Mef2 gene expression marks the cardiac and skeletal muscle lineages during mouse embryogenesis. Development. 1994; 120(5): 1251–63.
- Dodou E, Verzi MP, Anderson JP, Xu SM, Black BL. Mef2c is a direct transcriptional target of ISL1 and GATA factors in the anterior heart field during mouse embryonic development. Development. 2004; 131(16): 3931–42.
- Gottlieb PD, Pierce SA, Sims RJ, Yamagishi H, Weihe EK, Harriss JV, et al. Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis. Nat Genet. 2002; 31: 25–32.
- Tracy C, Warren JS, Szulik M, Wang L, Garcia J, Makaju A, et al. The Smyd Family of Methyltransferases: Role in Cardiac and Skeletal Muscle Physiology and Pathology. Curr Opin Physiol. 2018; 1: 140–52.
- Laforest B, Nemer M. GATA5 interacts with GATA4 and GATA6 in outflow tract development. Dev Biol. 2011; 358(2): 368–78.
- Shi LM, Tao JW, Qiu XB, Wang J, Yuan F, Xu L, et al. GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. Int J Mol Med. 2014; 33(5): 1219–26.
- Wei D, Bao H, Zhou N, Zheng GF, Liu XY, Yang YQ. GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. Pediatr Cardiol. 2013; 34(3): 504–11.
- Huang RT, Xue S, Xu YJ, Zhou M, Yang YQ. Somatic GATA5 mutations in sporadic tetralogy of Fallot. Int J Mol Med. 2014; 33(5):1227–35.
- Cai CL, Liang X, Shi Y, Chu PH, Pfaff SL, Chen J, et al. Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev Cell. 2003; 5(6): 877–89.
- Cai CL, Zhou W, Yang L, Bu L, Qyang Y, Zhang X, et al. T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis. Development. 2005; 132(10): 2475–87.
- Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, et al. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. J Med Genet. 2010; 47(4): 230–5.
- Pan Y, Geng R, Zhou N, Zheng GF, Zhao H, Wang J, et al. TBX20 loss-of-function mutation contributes to double outlet right ventricle. Int J Mol Med. 2015; 35(4): 1058–66.
- Monroy-Munoz IE, Perez-Hernandez N, Rodriguez-Perez JM, Munoz-Medina JE, Angeles-Martinez J, Garcia-Trejo JJ, et al. Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect. Biomed Res Int. 2015; 2015: 718786.
DOI: https://doi.org/10.2478/bjmg-2021-0028 | Journal eISSN: 2199-5761
Language: English
Page range: 39 - 47
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
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© 2022 E Wang, X Fan, Y Nie, Z Zheng, S Hu, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.