Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects

Gene

Volumn 508, Issue 1, 2012, Pages 106-109

  Qin, Xianyun ^a   Xing, Qining ^a   Ma, Liming ^a   Meng, Haihong ^a   Liu, Yumei ^a   Pang, Shuchao ^a   Yan, Bo ^a  

^a JINING MEDICAL UNIVERSITY   (China)

Author keywords

Congenital heart disease; Enhancer; NKX2 5; Sequence variants; Ventricular septal defects

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE INSERTION; GENETIC ANALYSIS; GENETIC VARIABILITY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; ENHANCER ELEMENTS, GENETIC; FEMALE; GENETIC VARIATION; HEART SEPTAL DEFECTS, VENTRICULAR; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PROMOTER REGIONS, GENETIC; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84865569856     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.07.019     Document Type: Article

References (59)

1. Akazawa H., Komuro I. Cardiac transcription factor Csx/Nkx2-5: its role in cardiac development and diseases. Pharmacol. Ther. 2005, 107:252-268.
2. Biben C., et al. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ. Res. 2000, 87:888-895.
3. Brewer A.C., Alexandrovich A., Mjaatvedt C.H., Shah A.M., Patient R.K., Pizzey J.A. GATA factors lie upstream of Nkx 2.5 in the transcriptional regulatory cascade that effects cardiogenesis. Stem Cells Dev. 2005, 14:425-439.
4. Brown C.O., Chi X., Garcia-Gras E., Shirai M., Feng X.H., Schwartz R.J. The cardiac determination factor, Nkx2-5, is activated by mutual cofactors GATA-4 and Smad1/4 via a novel upstream enhancer. J. Biol. Chem. 2004, 279:10659-10669.
5. Bruneau B.G. The developmental genetics of congenital heart disease. Nature 2008, 451:943-948.
6. Bruneau B.G., et al. Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand. Dev. Biol. 2000, 217:266-277.
7. Bruneau B.G., et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 2001, 106:709-721.
8. Buckingham M., Meilhac S., Zaffran S. Building the mammalian heart from two sources of myocardial cells. Nat. Rev. Genet. 2005, 6:826-835.
9. Chen Y., Cao X. NFAT directly regulates Nkx2-5 transcription during cardiac cell differentiation. Biol. Cell 2009, 101:335-349.
10. Chen C.Y., Schwartz R.J. Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription. Mol. Cell. Biol. 1996, 16:6372-6384.
11. De Luca A., et al. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 2010, 96:673-677.
12. Dunwoodie S.L. Combinatorial signaling in the heart orchestrates cardiac induction, lineage specification and chamber formation. Semin. Cell Dev. Biol. 2007, 18:54-66.
13. Durocher D., Chen C.Y., Ardati A., Schwartz R.J., Nemer M. The atrial natriuretic factor promoter is a downstream target for Nkx-2.5 in the myocardium. Mol. Cell. Biol. 1996, 16:4648-4655.
14. Durocher D., Charron F., Warren R., Schwartz R.J., Nemer M. The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors. EMBO J. 1997, 16:5687-5696.
15. Elliott D.A., et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J. Am. Coll. Cardiol. 2003, 41:2072-2076.
16. Gioli-Pereira L., Pereira A.C., Mesquita S.M., Xavier-Neto J., Lopes A.A., Krieger J.E. NKX2.5 mutations in patients with non-syndromic congenital heart disease. Int. J. Cardiol. 2010, 138:261-265.
17. Habets P.E., et al. Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev. 2002, 16:1234-1246.
18. Harvey R.P. NK-2 homeobox genes and heart development. Dev. Biol. 1996, 178:203-216.
19. He A., Kong S.W., Ma Q., Pu W.T. Co-occupancy by multiple cardiac transcription factors identifies transcriptional enhancers active in heart. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:5632-5637.
20. Hiroi Y., et al. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat. Genet. 2001, 28:276-280.
21. Jamali M., Rogerson P.J., Wilton S., Skerjanc I.S. Nkx2-5 activity is essential for cardiomyogenesis. J. Biol. Chem. 2001, 276:42252-42258.
22. Jay P.Y., et al. Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system. J. Clin. Invest. 2004, 113:1130-1137.
23. Jay P.Y., et al. Haploinsufficiency of the cardiac transcription factor Nkx2-5 variably affects the expression of putative target genes. FASEB J. 2005, 19:1495-1497.
24. Kasahara H., et al. Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein. J. Clin. Invest. 2001, 108:189-201.
25. Liberatore C.M., Searcy-Schrick R.D., Vincent E.B., Yutzey K.E. Nkx-2.5 gene induction in mice is mediated by a Smad consensus regulatory region. Dev. Biol. 2002, 244:243-256.
26. Lien C.L., Wu C., Mercer B., Webb R., Richardson J.A., Olson E.N. Control of early cardiac-specific transcription of Nkx2-5 by a GATA-dependent enhancer. Development 1999, 126:75-84.
27. Lien C.L., McAnally J., Richardson J.A., Olson E.N. Cardiac-specific activity of an Nkx2-5 enhancer requires an evolutionarily conserved Smad binding site. Dev. Biol. 2002, 244:257-266.
28. Lyons I., et al. Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5. Genes Dev. 1995, 9:1654-1666.
29. McElhinney D.B., Geiger E., Blinder J., Benson D.W., Goldmuntz E. NKX2.5 mutations in patients with congenital heart disease. J. Am. Coll. Cardiol. 2003, 42:1650-1655.
30. Moskowitz I.P., et al. A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell 2007, 129:1365-1376.
31. Pang, S., et al., in press. Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects. Pediatr. Cardiol.
32. Pashmforoush M., et al. Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell 2004, 117:373-386.
33. Peterkin T., Gibson A., Patient R. GATA-6 maintains BMP-4 and Nkx2 expression during cardiomyocyte precursor maturation. EMBO J. 2003, 22:4260-4273.
34. Pierpont M.E., et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007, 115:3015-3038.
35. Postma A.V., et al. A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ. Res. 2008, 102:1433-1442.
36. Pu W.T., Ishiwata T., Juraszek A.L., Ma Q., Izumo S. GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev. Biol. 2004, 275:235-244.
37. Rauch R., et al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J. Med. Genet. 2010, 47:321-331.
38. Reamon-Buettner S.M., Borlak J. NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum. Mutat. 2010, 31:1185-1194.
39. Reecy J.M., et al. Identification of upstream regulatory regions in the heart-expressed homeobox gene Nkx2-5. Development 1999, 126:839-849.
40. Rochais F., Mesbah K., Kelly R.G. Signaling pathways controlling second heart field development. Circ. Res. 2009, 104:933-942.
41. Schlesinger J., et al. The cardiac transcription network modulated by Gata4, Mef2a, Nkx2.5, Srf, histone modifications, and microRNAs. PLoS Genet. 2011, 7:e1001313.
42. Scholl A.M., Kirby M.L. Signals controlling neural crest contributions to the heart. Wiley Interdiscip. Rev. Syst. Biol. Med. 2009, 1:220-227.
43. Schott J.J., et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998, 281:108-111.
44. Searcy R.D., Vincent E.B., Liberatore C.M., Yutzey K.E. A GATA-dependent nkx-2.5 regulatory element activates early cardiac gene expression in transgenic mice. Development 1998, 125:4461-4470.
45. Shiojima I., et al. Molecular cloning and characterization of human cardiac homeobox gene CSX1. Circ. Res. 1996, 79:920-929.
46. Shiojima I., et al. Context-dependent transcriptional cooperation mediated by cardiac transcription factors Csx/Nkx-2.5 and GATA-4. J. Biol. Chem. 1999, 274:8231-8239.
47. Shiojima I., Oka T., Hiroi Y., Nagai R., Yazaki Y., Komuro I. Transcriptional regulation of human cardiac homeobox gene CSX1. Biochem. Biophys. Res. Commun. 2000, 272:749-757.
48. Srivastava D. Making or breaking the heart: from lineage determination to morphogenesis. Cell 2006, 126:1037-1048.
49. Stallmeyer B., Fenge H., Nowak-Göttl U., Schulze-Bahr E. Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin. Genet. 2010, 78:533-540.
50. Stennard F.A., et al. Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4, and GATA5 in regulation of gene expression in the developing heart. Dev. Biol. 2003, 262:206-224.
51. Takeuchi J.K., et al. Chromatin remodelling complex dosage modulates transcription factor function in heart development. Nat. Commun. 2011, 2:187.
52. Tanaka M., Chen Z., Bartunkova S., Yamasaki N., Izumo S. The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development 1999, 126:1269-1280.
53. Tanaka M., Wechsler S.B., Lee I.W., Yamasaki N., Lawitts J.A., Izumo S. Complex modular cis-acting elements regulate expression of the cardiac specifying homeobox gene Csx/Nkx2.5. Development 1999, 126:1439-1450.
54. Terada R., Warren S., Lu J.T., Chien K.R., Wessels A., Kasahara H. Ablation of Nkx2-5 at mid-embryonic stage results in premature lethality and cardiac malformation. Cardiovasc. Res. 2011, 91:289-299.
55. Toko H., et al. Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heart. J. Biol. Chem. 2002, 277:24735-24743.
56. Turbay D., Wechsler S.B., Blanchard K.M., Izumo S. Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx. Mol. Med. 1996, 2:86-96.
57. van der Bom T., Zomer A.C., Zwinderman A.H., Meijboom F.J., Bouma B.J., Mulder B.J. The changing epidemiology of congenital heart disease. Nat. Rev. Cardiol. 2011, 8:50-60.
58. Verheugt C.L., et al. Mortality in adult congenital heart disease. Eur. Heart J. 2010, 31:1220-1229.
59. Vincentz J.W., Barnes R.M., Firulli B.A., Conway S.J., Firulli A.B. Cooperative interaction of Nkx2.5 and Mef2c transcription factors during heart development. Dev. Dyn. 2008, 237:3809-3819.