Mutations in the 3′-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  Reamon Buettner, Stella ^a   Cho, Si Hyen ^a   Borlak, Juergen ^a  

^a FRAUNHOFER INSTITUTE FOR TOXICOLOGY AND EXPERIMENTAL MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; FORMALDEHYDE; THYMINE; TRANSCRIPTION FACTOR GATA 4; GATA4 PROTEIN, HUMAN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

3' UNTRANSLATED REGION; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DNA ISOLATION; EXON; EXPLANT; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GERM LINE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN TISSUE; MOSAICISM; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; VENTRICULOATRIAL SHUNT; CONGENITAL HEART MALFORMATION; GENETICS; MUTATION;

3' UNTRANSLATED REGIONS; BASE SEQUENCE; GATA4 TRANSCRIPTION FACTOR; HEART DEFECTS, CONGENITAL; HUMANS; MUTATION; ZINC FINGERS;

EID: 34547137690     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-38     Document Type: Article

References (43)

1. Molkentin JD The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression J Biol Chem 2000 275 38949-38952 10.1074/jbc.R000029200 11042222
2. Pikkarainen S Tokola H Kerkela R Ruskoaho H GATA transcription factors in the developing and adult heart Cardiovasc Res 2004 63 196-207 10.1016/ j.cardiores.2004.03.025 15249177
3. Temsah R Nemer M GATA factors and transcriptional regulation of cardiac natriuretic peptide genes Regul Pept 2005 128 177-185 10.1016/ j.regpep.2004.12.026 15837526
4. Kuo CT Morrisey EE Anandappa R Sigrist K Lu MM Parmacek MS Soudais C Leiden JM GATA4 transcription factor is required for ventral morphogenesis and heart tube formation Genes Dev 1997 11 1048-1060 10.1101/gad.11.8.1048 9136932
5. Molkentin JD Lin Q Duncan SA Olson EN Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis Genes Dev 1997 11 1061-1072 10.1101/gad.11.8.1061 9136933
6. Holtzinger A Evans T Gata4 regulates the formation of multiple organs. Development 1997 132 17 4005-4014
7. Jacobsen CM Mannisto S Porter-Tinge S Genova E Parviainen H Heikinheimo M Adameyko II Tevosian SG Wilson DB GATA-4: FOG interactions regulate gastric epithelial development in the mouse Dev Dyn 2005 234 355-362 10.1002/dvdy.20552 16127717
8. Garg V Kathiriya IS Barnes R Schluterman MK King IN Butler CA Rothrock CR Eapen RS Hirayama-Yamada K Joo K Matsuoka R Cohen JC Srivastava D GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Nature 2003 424 443-447 10.1038/nature01827 12845333
9. Okubo A Miyoshi O Baba K Takagi M Tsukamoto K Kinoshita A Yoshiura K Kishino T Ohta T Niikawa N Matsumoto N A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family J Med Genet 2004 41 e97 10.1136/jmg.2004.018895 15235040
10. Sarkozy A Conti E Neri C D'Agostino R Digilio MC Esposito G Toscano A Marino B Pizzuti A Dallapiccola B Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors J Med Genet 2005 42 e16 10.1136/jmg.2004.026740 15689439
11. Hirayama-Yamada K Kamisago M Akimoto K Aotsuka H Nakamura Y Tomita H Furutani M Imamura S Takao A Nakazawa M Matsuoka R Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect Am J Med Genet A 2005 135 47-52 15810002
12. Basson CT Bachinsky DR Lin RC Levi T Elkins JA Soults J Grayzel D Kroumpouzou E Traill TA Leblanc-Straceski J Renault B Kucherlapati R Seidman JG Seidman CE Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome Nat Genet 1997 15 30-35 10.1038/ ng0197-30 8988165
13. Sarkozy A Esposito G Conti E Digilio MC Marino B Calabro R Pizzuti A Dallapiccola B CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects Am J Med Genet 2005 139 3 236-238 10.1002/ajmg.a.31018
14. Erickson RP Somatic gene mutation and human disease other than cancer Mutat Res 2003 543 125-136 10.1016/S1383-5742(03)00010-3 12644182
15. Holzelova E Vonarbourg C Stolzenberg MC Arkwright PD Selz F Prieur AM Blanche S Bartunkova J Vilmer E Fischer A Le Deist F Rieux-Laucat F Autoimmune lymphoproliferative syndrome with somatic Fas mutations N Engl J Med 2004 351 1409-1418 10.1056/NEJMoa040036 15459302
16. Reamon-Buettner SM Hecker H Spanel-Borowski K Craatz S Kuenzel E Borlak J Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations Am J Pathol 2004 164 2117-2125 1615780 15161646
17. Reamon-Buettner SM Borlak J Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease J Med Genet 2004 41 684-690 10.1136/jmg.2003.017483 15342699
18. Reamon-Buettner SM Borlak J TBX5 mutations in Non-Holt-Oram Syndrome (HOS) malformed hearts Hum Mutat 2004 24 104 10.1002/humu.9255 15221798
19. Reamon-Buettner SM Borlak J GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart J Med Genet 2005 42 e32 10.1136/jmg.2004.025395 15863664
20. Hesketh J 3′-Untranslated regions are important in mRNA localization and translation: Lessons from selenium and metallothionein Biochem Soc Trans 2004 32 990-993 10.1042/BST03209990 15506944
21. Conne B Stutz A Vassalli JD The 3′ untranslated region of messenger RNA: A molecular 'hotspot' for pathology? Nat Med 2000 6 637-641 10.1038/76211 10835679
22. Shibayama A Cook EH Jr Feng J Glanzmann C Yan J Craddock N Jones IR Goldman D Heston LL Sommer SS MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism Am J Med Genet B Neuropsychiatr Genet 2004 128 50-53 10.1002/ajmg.b.30016 15211631
23. Foti D Chiefari E Fedele M Iuliano R Brunetti L Paonessa F Manfioletti G Barbetti F Brunetti A Croce CM Fusco A Brunetti A Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice Nat Med 2005 11 765-773 10.1038/nm1254 15924147
24. Den Dunnen JT Antonarakis SE Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion Hum Mutat 2000 15 7-12 10.1002/ (SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N 10612815
25. Nury D Chabanon H Levadoux-Martin M Hesketh J An eleven nucleotide section of the 3′-untranslated region is required for perinuclear localization of rat metallothionein-1 mRNA Biochem J 2005 387 419-428 1134970 15537387 10.1042/BJ20040630
26. Xie X Lu J Kulbokas EJ Golub TR Mootha V Lindblad-Toh K Lander ES Kellis M Systematic discovery of regulatory motifs in human promoters and 3′ UTRs by comparison of several mammals Nature 2005 434 338-345 10.1038/nature03441 15735639
27. Pu WT Ishiwata T Juraszek AL Ma Q Izumo S GATA4 is a dosage-sensitive regulator of cardiac morphogenesis Dev Biol 2004 275 235-244 10.1016/ j.ydbio.2004.08.008 15464586
28. Zeisberg EM Ma Q Juraszek AL Moses K Schwartz RJ Izumo S Pu WT Morphogenesis of the right ventricle requires myocardial expression of Gata4 J Clin Invest 2005 115 1522-1531 1090473 15902305 10.1172/JCI23769
29. Lee Y Shioi T Kasahara H Jobe SM Wiese RJ Markham BE Izumo S The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression Mol Cell Biol 1998 18 3120-3129 108894 9584153
30. Sepulveda JL Belaguli N Nigam V Chen CY Nemer M Schwartz RJ GATA-4 and Nkx-2.5 coactivate Nkx-2 DNA binding targets: Role for regulating early cardiac gene expression Mol Cell Biol 1998 18 3405-3415 108922 9584181
31. Amrani N Ganesan R Kervestin S Mangus DA Ghosh S Jacobson A A faux 3′-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay Nature 2004 432 112-118 10.1038/nature03060 15525991
32. Mickleburgh I Burtle B Hollas H Campbell G Chrzanowska-Lightowlers Z Vedeler A Hesketh J Annexin A2 binds to the localization signal in the 3′ untranslated region of c-myc mRNA FEBS J 2005 272 413-421 10.1111/j.1742-4658.2004.04481.x 15654879
33. Lai EC Micro RNAs are complementary to 3′ UTR sequence motifs that mediate negative post-transcriptional regulation Nat Genet 2002 30 363-364 10.1038/ng865 11896390
34. Shalgi R Lapidot M Shamir R Pilpel Y A catalog of stability-associated sequence elements in 3′ UTRs of yeast mRNAs Genome Biol 2005 6 R86 1257469 16207357 10.1186/gb-2005-6-10-r86
35. Chen JM Ferec C Cooper DN A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: The importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants Hum Genet 2006 120 301-333 10.1007/s00439-006-0218-x 16807757
36. Nemer G Fadlalah F Usta J Nemer M Dbaibo G Obeid M Bitar F A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot Hum Mutat 2006 27 293-294 10.1002/humu.9410 16470721
37. Reamon-Buettner SM Borlak J HEY2 mutations in malformed hearts Hum Mutat 2006 27 118 10.1002/humu.9390 16329098
38. Wong C DiCioccio RA Allen HJ Werness BA Piver MS Mutations in BRCA1 from fixed, paraffin-embedded tissue can be artifacts of preservation Cancer Genet Cytogenet 1998 107 21-27 10.1016/S0165-4608(98)00079-X 9809029
39. Williams C Ponten F Moberg C Soderkvist P Uhlen M Ponten J Sitbon G Lundeberg J A high frequency of sequence alterations is due to formalin fixation of archival specimens Am J Pathol 1999 155 1467-1471 1866966 10550302
40. Lievre A Landi B Cote JF Veyrie N Zucman-Rossi J Berger A Laurent-Puig P Absence of mutation in the putative tumor-suppressor gene KLF6 in colorectal cancers Oncogene 2005 24 7253-7256 10.1038/sj.onc.1208867 16044160
41. Inga A Reamon-Buettner SM Borlak J Resnick MA Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system Hum Mol Genet 2005 14 1965-1975 10.1093/hmg/ddi202 15917268
42. GeneView http://www.ensembl.org/Homosapiens/geneview
43. Zuker's RNA folding algorithm http://www.bioinfo.rpi.edu/~zukerm/seqanal/