Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects.

Pediatric Cardiology
Shuchao PangBo Yan

Abstract

The ventricular septal defect (VSD) is the most common type of congenital heart disease (CHD). The morbidity and mortality of CHD patients are significantly higher due to late cardiac complications, likely caused by genetic defects. Mutations in cardiac transcription factor genes such as GATA-4, TBX5, and NKX2-5 have been implicated in CHD cases. The NKX2-5 gene, a homeobox gene, is expressed in the developing heart and the adult heart. Because NKX2-5 is a dosage-sensitive regulator during embryonic development, the authors hypothesized that the expression levels of the NKX2-5 gene rather than the mutant protein may play important roles in CHD. In this study, the promoter regions and exon regions of the NKX2-5 gene were bidirectionally sequenced in large cohorts of VSD patients and healthy control subjects. The results showed that a novel sequence variant (g.4574c>deletion), found only in one VSD patient, and a single nucleotide polymorphism (rs118026695), the frequency of which was significantly higher in VSD patients, were identified within the promoter region. Functional analysis confirmed that these sequence variants significantly enhanced the transcriptional activities of the NKX2-5 gene promoter, altering the expression o...Continue Reading

References

Sep 1, 1996·Molecular and Cellular Biology·D DurocherM Nemer
Dec 10, 1999·The Journal of Clinical Investigation·D W BensonJ D Kugler
Jun 22, 2000·Biochemical and Biophysical Research Communications·I ShiojimaI Komuro
Mar 13, 2002·The Journal of Biological Chemistry·Haruhiro TokoIssei Komuro
Jan 20, 2004·Cell Research·Sylvia AlappatYi Ping Chen
Mar 23, 2004·Journal of Cellular Biochemistry·Tien HsuDennis K Watson
Apr 16, 2004·The Journal of Clinical Investigation·Patrick Y JaySeigo Izumo
Apr 27, 2005·Journal of Molecular and Cellular Cardiology·Laurent DupaysMagali Théveniau-Ruissy
Jun 1, 2005·Pharmacology & Therapeutics·Hiroshi Akazawa, Issei Komuro
Jun 24, 2005·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Patrick Y JaySeigo Izumo
Jan 20, 2006·Genome Biology·Dawid EckertHubert Schorle
Oct 2, 2007·BMC Bioinformatics·Michael Q Zhang
Feb 22, 2008·Nature·Benoit G Bruneau
Aug 12, 2008·Circulation Research·Laura E BriggsHideko Kasahara
Sep 23, 2008·Trends in Cell Biology·Shirley Polager, Doron Ginsberg
Nov 28, 2008·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Joshua W VincentzAnthony B Firulli
Mar 9, 2010·European Heart Journal·Carianne L VerheugtBarbara J M Mulder
Aug 21, 2010·Human Mutation·Stella Marie Reamon-Buettner, Juergen Borlak
Nov 4, 2010·Nature Reviews. Cardiology·Teun van der BomBarbara J M Mulder
Feb 3, 2011·Cardiovascular Research·Ryota TeradaHideko Kasahara
Feb 10, 2011·Nature Communications·Jun K TakeuchiBenoit G Bruneau
Mar 19, 2011·Proceedings of the National Academy of Sciences of the United States of America·Aibin HeWilliam T Pu
Jun 7, 2011·Developmental Biology·Ramón A Espinoza-LewisYiPing Chen
Sep 1, 2011·Nature Reviews. Genetics·Zuben E Sauna, Chava Kimchi-Sarfaty

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Citations

Aug 14, 2012·Biochemical and Biophysical Research Communications·Jiping ShanBo Yan
Aug 15, 2015·Genetic Testing and Molecular Biomarkers·Sarada KetharnathanVettriselvi Venkatesan
Aug 14, 2012·Translational Research : the Journal of Laboratory and Clinical Medicine·Silvia PulignaniMaria Grazia Andreassi
Jan 26, 2016·Genes·Ill-Min Chung, Govindasamy Rajakumar
Nov 17, 2020·PeerJ·Yawen ZhangQiang Li
Oct 10, 2020·American Journal of Physiology. Heart and Circulatory Physiology·Guangrui LaiYanyan Zhao
Dec 22, 2020·Biomarkers in Medicine·Thelma B González-CastroNonanzit Pérez-Hernández
Mar 30, 2021·Frontiers in Genetics·Xuefei YuanMichael D Wilson
Aug 22, 2021·The Egyptian Heart Journal : (EHJ) : Official Bulletin of the Egyptian Society of Cardiology·Sana AshiqMuhammad Farooq Sabar

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