Jue Wang
School of Life Sciences, Fudan University, Shanghai 200433, China
Key words: Congenital Heart Defects, Notch signaling pathway, Notch target gene, modern genetics
Recieved: Dec.7, 2011 Accepted: Dec.20, 2011 Corresponding: juer520@163.com
《现代人类学通讯》第六卷e5篇 第30-33页 2012年1月17日网上发行
专题综述
Notch信号通路在人类先天性心脏病中的遗传机制
王珏
复旦大学生命科学学院,上海 200433
摘要:先天性心脏病是排名第一的出生缺陷,目前在中国的发病率还在不断上升。 Notch信号通路是一个高度保守的信号途径,它涉及到心脏发育中的很多步骤,有心肌分化、房室管边界形成、瓣膜发育、心室小梁形成以及流出道重塑。本篇文章就Notch信号在人类先天性心脏病中的遗传机制进行分析,来探讨Notch基因的异常或变异对先心病产生的影响。
关键词:先天性心脏病;Notch信号通路;Notch靶基因;现代遗传学
收稿日期:2011年12月7日
修回日期:2011年12月20日
联系人:王珏
juer520@163.com
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参考文献 References
1. Wang B, Wen Q, Xie X, Liu S, Liu M, Tao
Y, Li Z, Suo P, Shen A, Wang J, Ma X(2010)Mutation analysis of Connexon43 gene
in Chinese patients with congenital heart
defects. Intl J Cardiol 145: 487-489
2. Bentham J, Bhattacharya S(2008)Genetic
mechanisms controlling cardiovascular
development. Ann N Y Acad Sci 1123:
10–19
3. Bruneau BG(2008)The developmental
genetics of congenital heart disease. Nature 451:943-948.
4. van den Akker NM, Molin DG, Peters PP,
Maas S, Wisse LJ, van Brempt R, van
Munsteren CJ, Bartelings MM, Poelmann RE,
Carmeliet P, Gittenberger-de Groot AC(2007)Tetralogy of Fallot and Alterations in
Vascular Endothelial Growth Factor-A
Signaling and Notch Signaling in Mouse
Embryos Solely Expressing the VEGF120
Isoform. Circ Res 100:842-849.
5. Greenway SC, Pereira AC, Lin JC, DePalma
SR, Israel SJ, Mesquita SM, Ergul E, Conta
JH, Korn JM, McCarroll SA, Gorham JM,
Gabriel S, Altshuler DM, Quintanilla-Dieck
Mde L, Artunduaga MA, Eavey RD, Plenge RM,
Shadick NA, Weinblatt ME, De Jager PL,
Hafler DA, Breitbart RE, Seidman JG, Seidman
CE(2009)De novo copy number
variants identify new genes and loci in
isolated sporadic tetralogy of Fallot.
Nat Genet 41:931-936.
6. High FA, Epstein JA(2008)The
multifaceted role of Notch in cardiac
development and disease. NatRev Genet 9:49-61.
7. Garg V, Muth AN, Ransom JF, Schluterman
MK, Barnes R, King IN, Grossfeld PD,
Srivastava D(2005)Mutations in NOTCH1 cause
aortic valve disease. Nature 437:
270–274.
8. McDaniell R, Warthen DM, Sanchez-Lara PA,
Pai A, Krantz ID, Piccoli DA, Spinner
NB(2006)NOTCH2 mutations
cause Alagille syndrome, a heterogeneous
disorder of the Notch signaling pathway.
Am J Hum Genet 79: 169–173.
9. Li D, Parks SB, Kushner JD, Nauman D,
Burgess D, Ludwigsen S, Partain J, Nixon RR,
Allen CN, Irwin RP, Jakobs PM, Litt M,
Hershberger RE(2006)Mutations of presenilin
genes in dilated cardiomyopathy and heart
failure. Am J Hum Genet 79: 1030–1039.
10. McKellar SH, Tester DJ, Yagubyan M,
Majumdar R, Ackerman MJ, Sundt TM 3rd(2007)Novel NOTCH1 mutations in patients with
bicuspid aortic valve disease and thoracic
aortic aneurysms. J Thorac Cardiovasc Surg 134(2):
290-296.
11. Mohamed SA, Aherrahrou Z, Liptau H,
Erasmi AW, Hagemann C, Wrobel S, Borzym K,
Schunkert H, Sievers HH, Erdmann J(2006)Novel missense mutations (p.T596M and
p.P1797H) in NOTCH1 in patients with
bicuspid aortic valve. Biochem
Biophysl Res Commun
345: 1460–1465.
12. Niessen K, Karsan A(2008)
Notch
Signaling in Cardiac Development. Circ Res 102:1169-1181.
13.
罗新锦(2007)国内先天性心脏病流行病学调查现状.第九届中国南方国际心血管病学术会议.
14. Hobbs CA, Cleves MA, Melnyk S, Zhao W,
James SJ(2005)Congenital heart defects and abnormal
maternal biomarkers of methionine and
homocysteine metabolism. Am
J Clin
Nutr 81:147–153.