Genetic analysis of the SIRT1 gene promoter in ventricular septal defects

Biochemical and Biophysical Research Communications

Volumn 425, Issue 4, 2012, Pages 741-745

  Shan, Jiping ^a   Pang, Shuchao ^a   Wanyan, Hongxin ^a   Xie, Wen ^a   Qin, Xianyun ^a   Yan, Bo ^a  

^a JINING MEDICAL UNIVERSITY   (China)

Author keywords

Congenital heart disease; Promoter; Sequence variants; SIRT1; Ventricular septal defects

Indexed keywords

SIRTUIN 1;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HEART SEPTAL DEFECTS, VENTRICULAR; HETEROZYGOTE; HUMANS; INFANT; MALE; PROMOTER REGIONS, GENETIC; SIRTUIN 1; YOUNG ADULT;

MAMMALIA;

EID: 84865997401     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.07.145     Document Type: Article

References (53)

1. Pierpont M.E., Basson C.T., Benson D.W., 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.
2. 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.
3. Verheugt C.L., Uiterwaal C.S., van der Velde E.T., et al. Mortality in adult congenital heart disease. Eur. Heart J. 2010, 31:1220-1229.
4. Buckingham M., Meilhac S., Zaffran S. Building the mammalian heart from two sources of myocardial cells. Nat. Rev. Genet. 2005, 6:826-835.
5. Srivastava D. Making or breaking the heart: from lineage determination to morphogenesis. Cell 2006, 126:1037-1048.
6. Dunwoodie S.L. Combinatorial signaling in the heart orchestrates cardiac induction, lineage specification and chamber formation. Semin. Cell Dev. Biol. 2007, 18:54-66.
7. Rochais F., Mesbah K., Kelly R.G. Signaling pathways controlling second heart field development. Circ. Res. 2009, 104:933-942.
8. Bruneau B.G. The developmental genetics of congenital heart disease. Nature 2008, 451:943-948.
9. Jay P.Y., Rozhitskaya O., Tarnavski O., et al. Haploinsufficiency of the cardiac transcription factor Nkx2-5 variably affects the expression of putative target genes. FASEB J. 2005, 19:1495-1497.
10. Postma A.V., van de Meerakker J.B., Mathijssen I.B., et al. A gain-of-function TBX5 mutation is associated with a typical Holt-Oram syndrome and paroxysmal a trial fibrillation. Circ. Res. 2008, 102:1433-1442.
11. 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.
12. S. Pang, J. Shan, Y. Qiao, et al., Genetic and Functional Analysis of the NKX2-5 Gene Promoter in Patients with Ventricular Septal Defects, Pediatr. Cardiol, 2012, in press.
13. Qiao Y., Wanyan H., Xing Q., et al. Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects. Gene 2012, 500:28-31.
14. J. Shan, S. Pang, Y. Qiao, et al., Functional analysis of the novel sequence variants within TBX5 gene promoter in patients with ventricular septal defects, Transl. Res, 2012, in press.
15. Wu G., Shan J., Pang S., Wei X., Zhang H., Yan B. Genetic analysis of the promoter region of the GATA4 gene in patients with ventricular septal defects. Transl. Res. 2012, 159:376-382.
16. Imai S., Armstrong C.M., Kaeberlein M., Guarente L. Transcriptional silencing and longevity protein Sir2 is an NAD-dependent histone deacetylase. Nature 2000, 403:795-800.
17. Finkel T., Deng C.X., Mostoslavsky R. Recent progress in the biology and physiology of sirtuins. Nature 2009, 460:587-591.
18. Haigis M.C., Sinclair D.A. Mammalian sirtuins: biological insights and disease relevance. Annu. Rev. Pathol. 2010, 5:253-295.
19. Horio Y., Hayashi T., Kuno A., Kunimoto R. Cellular and molecular effects of sirtuins in health and disease. Clin. Sci. (Lond) 2011, 121:191-203.
20. Houtkooper R.H., Pirinen E., Auwerx J. Sirtuins as regulators of metabolism and healthspan. Nat. Rev. Mol. Cell Biol. 2012, 13:225-238.
21. Chang C.P., Bruneau B.G. Epigenetics and cardiovascular development. Annu. Rev. Physiol. 2012, 74:41-68.
22. Cheng H.L., Mostoslavsky R., Saito S., et al. Developmental defects and p53 hyperacetylation in Sir2 homolog (SIRT1)-deficient mice. Proc. Natl. Acad. Sci. USA 2003, 100:10794-10799.
23. McBurney M.W., Yang X., Jardine K., et al. The mammalian SIR2alpha protein has a role in embryogenesis and gametogenesis. Mol. Cell. Biol. 2003, 23:38-54.
24. Sakamoto J., Miura T., Shimamoto K., Horio Y. Predominant expression of Sir2alpha, an NAD-dependent histone deacetylase, in the embryonic mouse heart and brain. FEBS Lett. 2004, 556:281-286.
25. Afshar G., Murnane J.P. Characterization of a human gene with sequence homology to Saccharomyces cerevisiae SIR2. Gene 1999, 234:161-168.
26. Zhang A., Wang H., Qin X., Pang S., Yan B. Genetic analysis of SIRT1 gene promoter in sporadic Parkinson's disease. Biochem. Biophys. Res. Commun. 2012, 422:693-696.
27. Clark S.J., Falchi M., Olsson B., et al. Association of sirtuin 1 (SIRT1) gene SNPs and transcript expression levels with severe obesity. Obesity (Silver Spring) 2012, 20:178-185.
28. Dong Y., Guo T., Traurig M., et al. SIRT1 is associated with a decrease in acute insulin secretion and a sex specific increase in risk for type 2 diabetes in Pima Indians. Mol. Genet. Metab. 2011, 104:661-665.
29. Zillikens M.C., van Meurs J.B., Rivadeneira F., et al. SIRT1 genetic variation is related to BMI and risk of obesity. Diabetes 2009, 58:2828-2834.
30. Shimoyama Y., Suzuki K., Hamajima N., Niwa T. Sirtuin 1 gene polymorphisms are associated with body fat and blood pressure in Japanese. Transl. Res. 2011, 157:339-347.
31. Shimoyama Y., Mitsuda Y., Tsuruta Y., Suzuki K., Hamajima N., Niwa T. SIRTUIN 1 gene polymorphisms are associated with cholesterol metabolism and coronary artery calcification in Japanese hemodialysis patients. J. Ren. Nutr. 2012, 22:114-119.
32. Frye R.A. Characterization of five human cDNAs with homology to the yeast SIR2 gene: Sir2-like proteins (sirtuins) metabolize NAD and may have protein ADP-ribosyltransferase activity. Biochem. Biophys. Res. Commun. 1999, 260:273-279.
33. Voelter-Mahlknecht S., Mahlknecht U. Cloning, chromosomal characterization and mapping of the NAD-dependent histone deacetylases gene sirtuin 1. Int. J. Mol. Med. 2006, 17:59-67.
34. Bai P., Canto C., Brunyánszki A., et al. PARP-2 regulates SIRT1 expression and whole-body energy expenditure. Cell Metab. 2011, 13:450-460.
35. Chen W.Y., Wang D.H., Yen R.C., Luo J., Gu W., Baylin S.B. Tumor suppressor HIC1 directly regulates SIRT1 to modulate p53-dependent DNA-damage responses. Cell 2005, 123:437-448.
36. Han L., Zhou R., Niu J., McNutt M.A., Wang P., Tong T. SIRT1 is regulated by a PPAR{γ}-SIRT1 negative feedback loop associated with senescence. Nucleic Acids Res. 2010, 38:7458-7471.
37. Nemoto S., Fergusson M.M., Finkel T. Nutrient availability regulates SIRT1 through a forkhead-dependent pathway. Science 2004, 306:2105-2108.
38. Noriega L.G., Feige J.N., Canto C., et al. CREB and ChREBP oppositely regulate SIRT1 expression in response to energy availability. EMBO Rep. 2011, 12:1069-1076.
39. Brunet A., Sweeney L.B., Sturgill J.F., et al. Stress-dependent regulation of FOXO transcription factors by the SIRT1 deacetylase. Science 2004, 303:2011-2015.
40. Luo J., Nikolaev A.Y., Imai S., et al. Negative control of p53 by Sir2alpha promotes cell survival under stress. Cell 2001, 107:137-148.
41. Motta M.C., Divecha N., Lemieux M., et al. Mammalian SIRT1 represses forkhead transcription factors. Cell 2004, 116:551-563.
42. Rodgers J.T., Lerin C., Haas W., Gygi S.P., Spiegelman B.M., Puigserver P. Nutrient control of glucose homeostasis through a complex of PGC-1alpha and SIRT1. Nature 2005, 434:113-118.
43. Vaziri H., Dessain S.K., Ng Eaton E., et al. HSIR2(SIRT1) functions as an NAD-dependent p53 deacetylase. Cell 2001, 107:149-159.
44. Zhao X., Sternsdorf T., Bolger T.A., Evans R.M., Yao T.P. Regulation of MEF2 by histone deacetylase 4- and SIRT1 deacetylase-mediated lysine modifications. Mol. Cell. Biol. 2005, 25:8456-8464.
45. Furuyama T., Kitayama K., Shimoda Y., et al. Abnormal angiogenesis in Foxo1 (Fkhr)-deficient mice. J. Biol. Chem. 2004, 279:34741-34749.
46. Hosaka T., Biggs W.H., Tieu D., et al. Disruption of forkhead transcription factor (FOXO) family members in mice reveals their functional diversification. Proc. Natl. Acad. Sci. USA 2004, 101:2975-2980.
47. Schips T.G., Wietelmann A., Höhn K., et al. FoxO3 induces reversible cardiac atrophy and autophagy in a transgenic mouse model. Cardiovasc. Res. 2011, 91:587-597.
48. Iida K., Hidaka K., Takeuchi M., et al. Expression of MEF2 genes during human cardiac development. Tohoku J. Exp. Med. 1999, 187:15-23.
49. Karamboulas C., Dakubo G.D., Liu J., et al. Disruption of MEF2 activity in cardiomyoblasts inhibits cardiomyogenesis. J. Cell Sci. 2006, 119:4315-4321.
50. Sundaresan N.R., Gupta M., Kim G., Rajamohan S.B., Isbatan A., Gupta M.P. Sirt3 blocks the cardiac hypertrophic response by augmenting Foxo3a-dependent antioxidant defense mechanisms in mice. J. Clin. Invest. 2009, 119:2758-2771.
51. Miller S.A., Huang A.C., Miazgowicz M.M., Brassil M.M., Weinmann A.S. Coordinated but physically separable interaction with H3K27-demethylase and H3K4-methyltransferase activities are required for T-box protein-mediated activation of developmental gene expression. Genes Dev. 2008, 22:2980-2993.
52. He A., Shen X., Ma Q., et al. PRC2 directly methylates GATA4 and represses its transcriptional activity. Genes Dev. 2012, 26:37-42.
53. Lavu S., Boss O., Elliott P.J., Lambert P.D. Sirtuins-novel therapeutic targets to treat age-associated diseases. Nat. Rev. Drug Discovery 2008, 7:841-853.