Homeobox protein MSX-2 is a protein that in humans is encoded by the MSX2 gene.[1][2][3]
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2.[3]
Interactions
Msh homeobox 2 has been shown to interact with DLX5,[4] DLX2[4] and MSX1.[4]
References
- ^ Takahashi C, Akiyama N, Matsuzaki T, Takai S, Kitayama H, Noda M (Aug 1996). "Characterization of a human MSX-2 cDNA and its fragment isolated as a transformation suppressor gene against v-Ki-ras oncogene". Oncogene 12 (10): 2137–46. PMID 8668339.
- ^ Kostrzewa M, Grady DL, Moyzis RK, Floter L, Muller U (Sep 1996). "Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35". Hum Genet 97 (3): 399–403. doi:10.1007/BF02185781. PMID 8786091.
- ^ a b "Entrez Gene: MSX2 msh homeobox 2".
- ^ a b c Zhang, H; Hu G; Wang H; Sciavolino P; Iler N; Shen M M; Abate-Shen C (May 1997). "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism". Mol. Cell. Biol. (UNITED STATES) 17 (5): 2920–32. ISSN 0270-7306. PMC 232144. PMID 9111364.
Further reading
- Suzuki M, Tanaka M, Iwase T et al. (1993). "Over-expression of HOX-8, the human homologue of the mouse Hox-8 homeobox gene, in human tumors.". Biochem. Biophys. Res. Commun. 194 (1): 187–93. doi:10.1006/bbrc.1993.1802. PMID 7687426.
- Semenza GL, Wang GL, Kundu R (1995). "DNA binding and transcriptional properties of wild-type and mutant forms of the homeodomain protein Msx2.". Biochem. Biophys. Res. Commun. 209 (1): 257–62. doi:10.1006/bbrc.1995.1497. PMID 7726844.
- Iimura T (1995). "[Molecular cloning and expression of homeobox-containing genes during hard tissue development]". Kokubyo Gakkai Zasshi 61 (4): 590–604. doi:10.5357/koubyou.61.590. PMID 7897272.
- Hodgkinson JE, Davidson CL, Beresford J, Sharpe PT (1993). "Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells.". Biochim. Biophys. Acta 1174 (1): 11–6. doi:10.1016/0167-4781(93)90086-s. PMID 8101453.
- Jabs EW, Müller U, Li X et al. (1993). "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.". Cell 75 (3): 443–50. doi:10.1016/0092-8674(93)90379-5. PMID 8106171.
- Ma L, Golden S, Wu L, Maxson R (1997). "The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences.". Hum. Mol. Genet. 5 (12): 1915–20. doi:10.1093/hmg/5.12.1915. PMID 8968743.
- Quinn LM, Johnson BV, Nicholl J et al. (1997). "Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4.". Gene 187 (1): 55–61. doi:10.1016/S0378-1119(96)00706-8. PMID 9073066.
- Zhang H, Hu G, Wang H et al. (1997). "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism.". Mol. Cell. Biol. 17 (5): 2920–32. PMC 232144. PMID 9111364.
- Wu L, Wu H, Ma L et al. (1997). "Miz1, a novel zinc finger transcription factor that interacts with Msx2 and enhances its affinity for DNA.". Mech. Dev. 65 (1-2): 3–17. doi:10.1016/S0925-4773(97)00032-4. PMID 9256341.
- Newberry EP, Latifi T, Battaile JT, Towler DA (1997). "Structure-function analysis of Msx2-mediated transcriptional suppression.". Biochemistry 36 (34): 10451–62. doi:10.1021/bi971008x. PMID 9265625.
- Stelnicki EJ, Kömüves LG, Holmes D et al. (1997). "The human homeobox genes MSX-1, MSX-2, and MOX-1 are differentially expressed in the dermis and epidermis in fetal and adult skin.". Differentiation 62 (1): 33–41. doi:10.1046/j.1432-0436.1997.6210033.x. PMID 9373945.
- Iimura T, Takeda K, Goseki M et al. (1998). "Characterization of two length cDNA for human MSX-2 from dental pulp-derived cells.". DNA Seq. 8 (1-2): 87–92. doi:10.3109/10425179709020891. PMID 9522127.
- Newberry EP, Latifi T, Towler DA (1999). "The RRM domain of MINT, a novel Msx2 binding protein, recognizes and regulates the rat osteocalcin promoter.". Biochemistry 38 (33): 10678–90. doi:10.1021/bi990967j. PMID 10451362.
- Wilkie AO, Tang Z, Elanko N et al. (2000). "Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.". Nat. Genet. 24 (4): 387–90. doi:10.1038/74224. PMID 10742103.
- Wuyts W, Reardon W, Preis S et al. (2000). "Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.". Hum. Mol. Genet. 9 (8): 1251–5. doi:10.1093/hmg/9.8.1251. PMID 10767351.
- Quinn LM, Latham SE, Kalionis B (2000). "The homeobox genes MSX2 and MOX2 are candidates for regulating epithelial-mesenchymal cell interactions in the human placenta.". Placenta 21 (Suppl A): S50–4. doi:10.1053/plac.1999.0514. PMID 10831122.
- Masuda Y, Sasaki A, Shibuya H et al. (2001). "Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function.". J. Biol. Chem. 276 (7): 5331–8. doi:10.1074/jbc.M008590200. PMID 11084035.
- Shirakabe K, Terasawa K, Miyama K et al. (2002). "Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5.". Genes Cells 6 (10): 851–6. doi:10.1046/j.1365-2443.2001.00466.x. PMID 11683913.
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External links
- GeneReviews/NCBI/UW/NIH entry on Enlarged Parietal Foramina/Cranium Bifidum
- MSX2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- MSX2 human gene location in the UCSC Genome Browser.
- MSX2 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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