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]
↑Takahashi C, Akiyama N, Matsuzaki T, Takai S, Kitayama H, Noda M (May 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. PMID8668339.
↑Kostrzewa M, Grady DL, Moyzis RK, Flöter L, Müller U (Mar 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". Human Genetics. 97 (3): 399–403. doi:10.1007/BF02185781. PMID8786091.
Suzuki M, Tanaka M, Iwase T, Naito Y, Sugimura H, Kino I (Jul 1993). "Over-expression of HOX-8, the human homologue of the mouse Hox-8 homeobox gene, in human tumors". Biochemical and Biophysical Research Communications. 194 (1): 187–93. doi:10.1006/bbrc.1993.1802. PMID7687426.
Semenza GL, Wang GL, Kundu R (Apr 1995). "DNA binding and transcriptional properties of wild-type and mutant forms of the homeodomain protein Msx2". Biochemical and Biophysical Research Communications. 209 (1): 257–62. doi:10.1006/bbrc.1995.1497. PMID7726844.
Iimura T (Dec 1994). "[Molecular cloning and expression of homeobox-containing genes during hard tissue development]". Kōkūbyō Gakkai Zasshi. The Journal of the Stomatological Society, Japan. 61 (4): 590–604. doi:10.5357/koubyou.61.590. PMID7897272.
Hodgkinson JE, Davidson CL, Beresford J, Sharpe PT (Jul 1993). "Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells". Biochimica et Biophysica Acta. 1174 (1): 11–6. doi:10.1016/0167-4781(93)90086-s. PMID8101453.
Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB (Nov 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. PMID8106171.
Ma L, Golden S, Wu L, Maxson R (Dec 1996). "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". Human Molecular Genetics. 5 (12): 1915–20. doi:10.1093/hmg/5.12.1915. PMID8968743.
Quinn LM, Johnson BV, Nicholl J, Sutherland GR, Kalionis B (Mar 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. PMID9073066.
Wu L, Wu H, Ma L, Sangiorgi F, Wu N, Bell JR, Lyons GE, Maxson R (Jul 1997). "Miz1, a novel zinc finger transcription factor that interacts with Msx2 and enhances its affinity for DNA". Mechanisms of Development. 65 (1–2): 3–17. doi:10.1016/S0925-4773(97)00032-4. PMID9256341.
Stelnicki EJ, Kömüves LG, Holmes D, Clavin W, Harrison MR, Adzick NS, Largman C (Oct 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; Research in Biological Diversity. 62 (1): 33–41. doi:10.1046/j.1432-0436.1997.6210033.x. PMID9373945.
Iimura T, Takeda K, Goseki M, Maruoka Y, Sasaki S, Oida S (1998). "Characterization of two length cDNA for human MSX-2 from dental pulp-derived cells". DNA Sequence. 8 (1–2): 87–92. doi:10.3109/10425179709020891. PMID9522127.
Newberry EP, Latifi T, Towler DA (Aug 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. PMID10451362.
Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE (Apr 2000). "Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification". Nature Genetics. 24 (4): 387–90. doi:10.1038/74224. PMID10742103.
Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W (May 2000). "Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna". Human Molecular Genetics. 9 (8): 1251–5. doi:10.1093/hmg/9.8.1251. PMID10767351.
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 (Suppl A): S50–4. doi:10.1053/plac.1999.0514. PMID10831122.
Masuda Y, Sasaki A, Shibuya H, Ueno N, Ikeda K, Watanabe K (Feb 2001). "Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function". The Journal of Biological Chemistry. 276 (7): 5331–8. doi:10.1074/jbc.M008590200. PMID11084035.
Shirakabe K, Terasawa K, Miyama K, Shibuya H, Nishida E (Oct 2001). "Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5". Genes to Cells. 6 (10): 851–6. doi:10.1046/j.1365-2443.2001.00466.x. PMID11683913.