Common arterial trunk associated with a homeodomain mutation of NKX2.6

Human Molecular Genetics

Volumn 14, Issue 5, 2005, Pages 585-593

  Heathcote, Kirsten ^a   Braybrook, Claire ^b   Abushaban, Lulu ^c   Guy, Michelle ^a   Khetyar, Maher E ^a   Patton, Michael A ^a   Carter, Nicholas D ^a   Scambler, Peter J ^b   Syriss, Petros ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Chest Diseases Hospital Kuwait   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

ATRIAL NATRIURETIC FACTOR; CONNEXIN 40; DNA; LEUCINE; PHENYLALANINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.6; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTERIAL TRUNK; ARTICLE; CHILD; CHROMOSOME 8P; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; EMBRYO DEVELOPMENT; ENDODERM; FAMILY STUDY; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE TARGETING; GENETIC COMPLEMENTATION; GENETIC TRANSCRIPTION; HEART DEVELOPMENT; HEART MUSCLE; HOMOZYGOTE; HUMAN; MOUSE; NONHUMAN; PHARYNX; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DETERMINATION; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN INTERACTION; TRANSCRIPTION INITIATION; ZYGOSITY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AORTA; CARDIOVASCULAR ABNORMALITIES; FEMALE; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PULMONARY ARTERY; TRANSCRIPTION, GENETIC;

EID: 14644441750     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi055     Document Type: Article

References (40)

1. Hoffman, J.I. and Kaplan, S. (2002) The incidence of congenital heart disease. J. Am. Coll. Cardiol., 19, 1890-1900.
2. Ferdman, B. and Singh, G. (2003) Persistent truncus arteriosus. Curr. Treat. Options. Cardiovasc. Med., 5, 429-438.
3. Hoffman, J.I., Kaplan, S. and Liberthson, R.R. (2004) Prevalence of congenital heart disease. Am. Heart J., 147, 425-439.
4. Webb, S., Qayyum, S.R., Anderson, R.H., Lamers, W.H. and Richardson, M.K. (2003) Septation and separation within the outflow tract of the developing heart. J. Anat., 202, 327-342.
5. Volpe, P., Paladini, D., Marasini, M., Buonadonna, A.L., Russo, M.G., Caruso, G., Marzullo, A., Vassallo, M., Martinelli, P. and Gentile, M. (2003) Common arterial trunk in the fetus: characteristics, associations and outcome in a multicentre series of 23 cases. Heart 89, 1437-1441.
6. Creazzo, T.L., Godt, R.E., Leatherbury, L., Conway, S.J. and Kirby, M.L. (1998) Role of cardiac neural crest cells in cardiovascular development. Annu. Rev. Physiol, 60, 267-286.
7. Franco, D. and Campione, M. (2003) The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. Trends Cardiovasc. Med., 13, 157-163.
8. Kelly, R.G. and Buckingham, M.E. (2002) The anterior heart-forming field: voyage to the arterial pole of the heart. Trends Genet., 18, 210-216.
9. Cai, C.L., Liang, X., Shi, Y., Chu, P.H., Pfaff, S.L., Chen, J. and Evans, S. (2003) Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev. Cell, 5, 877-889.
10. Xu, H., Morishima, M., Wylie, J.N., Schwartz, R.J., Bruneau, B.G., Lindsay, E.A. and Baldini, A. (2004) Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development, 131, 3217-3227.
11. Hu, T., Yamagishi, H., Maeda, J., McAnally, J., Yamagishi, C. and Srivastava, D. (2004) Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development, 131, 5491-5502.
12. Brown, C.B., Wenning, J.M., Lu, M.M., Epstein, D.J., Meyers, E.N. and Epstein, J.A. (2004) Cre-mediated excision of Fgf8 in the Tbx1 expression domain reveals a critical role for Fgf8 in cardiovascular development in the mouse. Dev. Biol., 267, 190-202.
13. Scambler, P.J. (2003) In Cooper, D. (ed), Nature Encyclopedia of the Human Genome. Macmillan, London.
14. McElhinney, D.B., Geiger, E., Blinder, J., Benson, D.W. and Goldmuntz, E. (2003) NKX2.5 mutations in patients with congenital heart disease. J. Am. Coll. Cardiol., 42, 1650-1655.
15. Hiroi, Y., Kudoh, S., Monzen, K., Ikeda, Y., Yazaki, Y., Nagai, R. and Komuro, I. (2001) Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat. Genet. 28, 276-280.
16. Garg, V., Kathiriya, I.S., Barnes, R., Schluterman, M.K., King, I.N., Butler, C.A., Rothrock, C.R., Eapen, R.S., Hirayama-Yamada, K., Joo, K. et al. (2003) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature, 424 443-447.
17. Harrelson, Z., Kelly, R.G., Goldin, S.N., Gibson-Brown, J.J., Bollag, R.J., Silver, L.M. and Papaioannou, V.E. (2004) Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development. Development, 131, 5041-5052.
18. Habets, P.E., Moorman, A.F., Clout, D.E., van Roon, M.A., Lingbeek, M., van Lohuizen, M., Campione, M. and Christoffels, V.M. (2002) Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev., 16, 1234-1246.
19. Abushaban, L., Uthaman, B., Kumar, A.R. and Selvan, J. (2003) Familial truncus arteriosus: a possible autosomal-recessive trait. Pediatr. Cardiol., 24, 64-66.
20. Broman, K.W., Murray, J.C., Sheffield, V.C., White, R.L. and Weber, J.L. (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet., 63 861-869.
21. Birney, E. andrews, D., Bevan, P., Caccamo, M., Cameron, G., Chen, Y., Clarke, L., Coates, G., Cox, T., Cuff, J. et al. (2004) Ensembl 2004. Nucleic Acids Res., 32, D468-D470.
22. Nikolova, M., Chen, X. and Lufkin, T. (1997) Nkx2.6 expression is transiently and specifically restricted to the branchial region of pharyngeal-stage mouse embryos. Mech. Dev., 69, 215-218.
23. Harvey, R.P. (1996) NK-2 homeobox genes and heart development. Dev. Biol., 178, 203-216.
24. Newman, C.S. and Krieg, P.A. (1998) Tinman-related genes expressed during heart development in Xenopus. Dev. Genet., 22 230-238.
25. Durocher, D., Charron, F., Warren, R., Schwartz, R.J. and Nemer, M. (1997) The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors. EMBO J, 16, 5687-5696.
26. Chen, C.Y., Croissant, J., Majesky, M., Topouzis, S., McQuinn, T., Frankovsky, M.J. and Schwartz, R.J. (1996) Activation of the cardiac alpha-actin promoter depends upon serum response factor, tinman homologue, Nkx-2.5 and intact serum response elements. Dev. Genet., 19, 119-130.
27. Kasahara, H., Usheva, A., Ueyama, T., Aoki, H., Horikoshi, N. and Izumo, S. (2001) Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein. J. Biol. Chem., 276, 4570-4580.
28. D'Elia, A.V., Tell, G., Paron, I., Pellizzari, L., Lonigro, R. and Damante, G. (2001) Missense mutations of human homeoboxes: a review. Hum. Mutat., 18, 361-374.
29. Kissinger, C.R., Liu, B.S., Martin-Blanco, E., Kornberg, T.B. and Pabo, C.O. (1990) Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions. Cell, 63, 579-590.
30. Banerjee-Basu, S. and Baxevanis, A.D. (1999) Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis. Hum. Mutat., 14, 312-319.
31. Falcinelli, C., Iughetti, L., Percesepe, A., Calabrese, G., Chiarelli, F., Cisternino, M., De Sanctis, L., Pucarelli, I., Radetti, G., Wasniewska, M. et al. (2002) SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. J. Med. Genet., 39, E33.
32. Osorio, M.G., Kopp, P., Marui, S., Latronico, A.C., Mendonca, B.B. and Arnhold, I.J. (2000) Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. J. Clin. Endocrinol. Metab, 85, 2779-2785.
33. Biben, C., Hatzistavrou, T. and Harvey, R.P. (1998) Expression of NK-2 class homeobox gene Nkx2-6 in foregut endoderm and heart. Mech. Dev., 73, 125-127.
34. Lyons, I., Parsons, L.M., Hartley, L., Li, R. Andrews, J.E., Robb, L. and Harvey, R.P. (1995) Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5. Genes Dev., 9, 1654-1666.
35. Tanaka, M., Yamasaki, N. and Izumo, S. (2000) Phenotypic characterization of the murine Nkx2.6 homeobox gene by gene targeting. Mol. Cell. Biol., 20, 2874-2879.
36. Macatee, T.L., Hammond, B.P., Arenkiel, B.R., Francis, L., Frank, D.U. and Moon, A.M. (2003) Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development. Development, 130, 6361-6374.
37. Tanaka, M., Schinke, M., Liao, H.S., Yamasaki, N. and Izumo, S. (2001) Nkx2.5 and Nkx2.6, homologs of Drosophila tinman, are required for development of the pharynx. Mol. Cell. Biol., 21 4391-4398.
38. Sepulveda, U., Belaguli, N., Nigam, V., Chen, C.Y., Nemer, M. and Schwartz, R.J. (1998) GATA-4 and Nkx-2.5 coactivate Nkx-2 DNA binding targets: role for regulating early cardiac gene expression. Mol. Cell. Biol., 18, 3405-3415.
39. Baldini, A. (2004) DiGeorge syndrome: an update. Curr. Opin. Cardiol., 19, 201-204.
40. Benson, D.A., Karsch-Mizrachi, I., Lipman, D.J., Ostell, J. and Wheeler, D.L. (2004) GenBank: update. Nucleic Acids Res., 32 D23-D26.