Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Böhm, Johann ^a   Heinritz, Wolfram ^b   Craig, Alexander ^a   Vujic, Mihailo ^c   Ekman Joelsson, Britt Marie ^d   Kohlhase, Jürgen ^a,e   Froster, Ursula ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^d SKARABORG HOSPITAL   (Sweden)

^e Praxis fur Humangenetik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; SAL LIKE PROTEIN 4; TRANSCRIPTION FACTOR TBX5; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; SALL4 PROTEIN, HUMAN; T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR;

ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELLULAR DISTRIBUTION; FRAMESHIFT MUTATION; GENE ACTIVATION; GENE DELETION; GENE EXPRESSION; HOLT ORAM SYNDROME; HUMAN; HUMAN CELL; MALE; MUTATIONAL ANALYSIS; NONHUMAN; PRESCHOOL CHILD; PROMOTER REGION; PROTEIN LOCALIZATION; ANIMAL; ARM MALFORMATION; CELL STRAIN COS1; CERCOPITHECUS; CONGENITAL HEART MALFORMATION; GENETIC TRANSFECTION; GENETICS; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; REPORTER GENE; TRANSACTIVATION;

ABNORMALITIES, MULTIPLE; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; GENES, REPORTER; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MUTATION, MISSENSE; PROMOTER REGIONS (GENETICS); SEQUENCE DELETION; T-BOX DOMAIN PROTEINS; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS; TRANSFECTION; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

EID: 54049158907     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-88     Document Type: Article

References (26)

1. Basson CT Bachinsky DR Lin RC Levi T Elkins JA Soults J: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 1997, 15:30-35. 10.1038/ng0197-30 8988165
2. Li QY Newbury-Ecob RA Terrett JA Wilson DI Curtis AR Yi CH: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 1997, 15:21-29. 10.1038/ng0197-21 8988164
3. Huang T Lock JE Marshall AC Basson C Seidman JG Seidman CE: Causes of clinical diversity in human TBX5 mutations. Cold Spring Harb Symp Quant Biol 2002, 67:115-20. 10.1101/sqb.2002.67.115 12858531
4. Heinritz W Shou L Moschik A Froster U: The human TBX5 gene mutation database. Hum Mutat 2005, 26:397. 10.1002/humu.9375 16134140
5. Akrami SM Winter RM Brook JD Armour JA: Detection of a large TBX5 deletion in a family with Holt-Oram syndrome. J Med Genet 2001, 38:E44. 1734777 11748310 10.1136/jmg.38.12.e44
6. Borozdin W Bravo Ferrer Acosta AM Bamshad MJ Botzenhart EM Froster UG Lemke J: Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat 2006, 27:975-976. 10.1002/humu.9449 16917909
7. Goldmuntz E: The genetic contribution to congenital heart disease. Pediatr Clin North Am 2004, 51:1721-1737. 10.1016/j.pcl.2004.08.006 15561182
8. Reamon-Buettner SM Borlak J: Somatic mutations in cardiac malformations. J Med Genet 2006, 43:e45. 10.1136/jmg.2006.040907 16882739
9. McDermott DA Bressan MA He J Lee JS Aftimos S Brueckner M: TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome. Pediatr Res 2005, 58:981-986. 10.1203/01.PDR.0000182593.95441.64 16183809
10. Ghosh TK Packham EA Bonser AJ Robinson TE Cross SJ Brook JD: Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum Mol Genet 2001, 10:1983-1994. 10.1093/hmg/ 10.18.1983 11555635
11. Bruneau BG Nemer G Schmitt JP Charron F Robitaille L Caron S: 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. 10.1016/S0092-8674(01)00493-7 11572777
12. Fan C Duhagon MA Oberti C Chen S Hiroi Y Komuro I: Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome. J Med Genet 2003, 40:e29. 1618877 12624158 10.1136/jmg.40.3.e29
13. Fan C Liu M Wang Q: Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. J Biol Chem 2003, 278:8780-8785. 1579789 12499378 10.1074/jbc.M208120200
14. Koshiba-Takeuchi K Takeuchi JK Arruda EP Kathiriya IS Mo R Hui CC: Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Nat Genet 2006, 38:175-183. 10.1038/ng1707 16380715
15. Garg V Kathiriya IS Barnes R Schluterman MK King IN Butler CA: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003, 424:443-447. 10.1038/nature01827 12845333
16. Murakami M Nakagawa M Olson EN Nakagawa O: A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome. Proc Natl Acad Sci USA 2005, 102:18034-18039. 1312418 16332960 10.1073/pnas.0509109102
17. Collavoli A Hatcher CJ He J Okin D Deo R Basson CT: TBX5 nuclear localization is mediated by dual cooperative intramolecular signals. J Mol Cell 2003, 35:1191-1195. 10.1016/S0022-2828(03)00231-1
18. Heinritz W Moschik A Kujat A Spranger S Heilbronner H Demuth S: Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. Heart 2005, 91:383-384. 1768780 15710732 10.1136/ hrt.2004.036855
19. Hatcher CJ Goldstein MM Mah CS Delia CS Basson CT: Identification and localization of TBX5 transcription factor during human cardiac morphogenesis. Dev Dyn 2000, 219:90-95. 10.1002/ 1097-0177(200009)219:1<90::AID-DVDY1033>3.0.CO;2-L 10974675
20. Bohm J Kaiser FJ Borozdin W Depping R Kohlhase J: Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression. Biochem Biophys Res Commun 2007, 356:773-779. 10.1016/j.bbrc.2007.03.050 17383611
21. Hiroi Y Kudoh S Monzen K Ikeda Y Yazaki Y Nagai R Komuro I: Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet 2001, 28:276-280. 10.1038/90123 11431700
22. Borozdin W Bravo-Ferrer Acosta AM Seemanova E Leipoldt M Bamshad MJ Unger S: Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. Am J Med Genet A 2006, 140A(17):1880-1886. 10.1002/ ajmg.a.31340 16892408
23. Brassington AM Sung SS Toydemir RM Le T Roeder AD Rutherford AE: Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet 2003, 73:74-85. 1180592 12789647 10.1086/376436
24. Wilson V Conlon FL: The T-box family. Genome Biology 2002, 3:REVIEWS3008. 139375 12093383 10.1186/gb-2002-3-6-reviews3008
25. Conlon FL Fairclough L Price BM Casey ES Smith JC: Determinants of T box protein specificity. Development 2001, 128:3749-3758. 11585801
26. Maquat LE: Nonsense-mediSted mRNA decay: splicing, translation and mRNP dynamics. Nature Reviews Molecular Cell Biology 2004, 5:88-99. 10.1038/ nrm1310