NKX2-5
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NK2 transcription factor related, locus 5 (Drosophila), also known as NKX2-5, is a human gene.[1]
Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995). It has been demonstrated that a Drosophila homeobox-containing gene called 'tinman' is expressed in the developing dorsal vessel and in the equivalent of the vertebrate heart. Mutations in tinman result in loss of heart formation in the embryo, suggesting that tinman is essential for Drosophila heart formation. Furthermore, abundant expression of Csx, the presumptive mouse homolog of tinman, is observed only in the heart from the time of cardiac differentiation. CSX, the human homolog of murine Csx, has a homeodomain sequence identical to that of Csx and is expressed only in the heart, again suggesting that CSX plays an important role in human heart formation.[supplied by OMIM][1]
[edit] References
[edit] Further reading
- Harvey RP, Lai D, Elliott D, et al. (2003). "Homeodomain factor Nkx2-5 in heart development and disease.". Cold Spring Harb. Symp. Quant. Biol. 67: 107–14. PMID 12858530.
- Shiojima I, Komuro I, Inazawa J, et al. (1995). "Assignment of cardiac homeobox gene CSX to human chromosome 5q34.". Genomics 27 (1): 204–6. doi:. PMID 7665173.
- Chen CY, Schwartz RJ (1996). "Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.". Mol. Cell. Biol. 16 (11): 6372–84. PMID 8887666.
- Turbay D, Wechsler SB, Blanchard KM, Izumo S (1997). "Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx.". Mol. Med. 2 (1): 86–96. PMID 8900537.
- Durocher D, Charron F, Warren R, et al. (1997). "The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors.". EMBO J. 16 (18): 5687–96. doi:. PMID 9312027.
- Schott JJ, Benson DW, Basson CT, et al. (1998). "Congenital heart disease caused by mutations in the transcription factor NKX2-5.". Science 281 (5373): 108–11. PMID 9651244.
- Kim YH, Choi CY, Lee SJ, et al. (1998). "Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors.". J. Biol. Chem. 273 (40): 25875–9. PMID 9748262.
- Kasahara H, Izumo S (1999). "Identification of the in vivo casein kinase II phosphorylation site within the homeodomain of the cardiac tisue-specifying homeobox gene product Csx/Nkx2.5.". Mol. Cell. Biol. 19 (1): 526–36. PMID 9858576.
- Benson DW, Silberbach GM, Kavanaugh-McHugh A, et al. (2000). "Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.". J. Clin. Invest. 104 (11): 1567–73. PMID 10587520.
- Kasahara H, Lee B, Schott JJ, et al. (2000). "Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease.". J. Clin. Invest. 106 (2): 299–308. PMID 10903346.
- Zhu W, Shiojima I, Hiroi Y, et al. (2001). "Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease.". J. Biol. Chem. 275 (45): 35291–6. doi:. PMID 10948187.
- Hiroi Y, Kudoh S, Monzen K, et al. (2001). "Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.". Nat. Genet. 28 (3): 276–80. doi:. PMID 11431700.
- Goldmuntz E, Geiger E, Benson DW (2001). "NKX2.5 mutations in patients with tetralogy of fallot.". Circulation 104 (21): 2565–8. PMID 11714651.
- Toko H, Zhu W, Takimoto E, et al. (2002). "Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heart.". J. Biol. Chem. 277 (27): 24735–43. doi:. PMID 11889119.
- Habets PE, Moorman AF, Clout DE, et al. (2002). "Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation.". Genes Dev. 16 (10): 1234–46. doi:. PMID 12023302.
- Ikeda Y, Hiroi Y, Hosoda T, et al. (2002). "Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.". Circ. J. 66 (6): 561–3. PMID 12074273.
- Shirai M, Osugi T, Koga H, et al. (2002). "The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis.". J. Clin. Invest. 110 (2): 177–84. PMID 12122109.
- Watanabe Y, Benson DW, Yano S, et al. (2002). "Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.". J. Med. Genet. 39 (11): 807–11. PMID 12414819.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:. PMID 12477932.
- Fan C, Liu M, Wang Q (2003). "Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.". J. Biol. Chem. 278 (10): 8780–5. doi:. PMID 12499378.
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