Msh homeobox 2

Homeobox protein MSX-2 is a protein that in humans is encoded by the MSX2 gene.^[4][5][6]

Function

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.^[6] Msx2 is a homeobox gene localized on human chromosome 5 that encodes a transcription repressor and activator (MSX-2) responsible for craniofacial and limb-bud development. Cells will express msx2 when exposed to signaling molecules BMP-2 and BMP-4 in situ.^[7] Expression of msx2 leads to the proliferation, migration and osteogenic differentiation of neural crest cells during embryogenesis and bone fracture.^[8] It is well documented that expression of cell-cell adhesion molecules such as E-cadherins will promote structural integrity and an epithelial arrangement of cells, while expression of N-cadherin and vimentin promote mesenchymal arrangement and cell migration.^[9][10] Msx2 downregulates E-cadherins and upregulates N-cadherin and vimentin which indicates its role in inducing epithelial mesenchymal transition (EMT). Germline knockout mice have been created for this gene (Msx2 +/-) in order to examine functional loss.^[11] Clinical studies on craniosynostosis, or the premature fusion of cranial structures, have shown the condition to be genetically linked to mutation in the msx2 homeobox gene.^[12]

Interactions

Msh homeobox 2 has been shown to

Further reading

• Suzuki M, Tanaka M, Iwase T, Naito Y, Sugimura H, Kino I (July 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.
  S2CID 27890243
  .
• Semenza GL, Wang GL, Kundu R (April 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.
  PMID 7726844
  .
• Iimura T (December 1994). "[Molecular cloning and expression of homeobox-containing genes during hard tissue development]". Kokubyo Gakkai Zasshi. The Journal of the Stomatological Society, Japan. 61 (4): 590–604.
  S2CID 2781509
  .
• Hodgkinson JE, Davidson CL, Beresford J, Sharpe PT (July 1993). "Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1174 (1): 11–6.
  PMID 8101453
  .
• Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB (November 1993). "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis". Cell. 75 (3): 443–50.
  S2CID 13650758
  .
• Ma L, Golden S, Wu L, Maxson R (December 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.
  PMID 8968743
  .
• Quinn LM, Johnson BV, Nicholl J,
  PMID 9073066
  .
• Zhang H, Hu G, Wang H, Sciavolino P, Iler N, Shen MM, Abate-Shen C (May 1997). "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism". Molecular and Cellular Biology. 17 (5): 2920–32.
  PMID 9111364
  .
• Wu L, Wu H, Ma L, Sangiorgi F, Wu N, Bell JR, Lyons GE, Maxson R (July 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.
  S2CID 11835268
  .
• Newberry EP, Latifi T, Battaile JT, Towler DA (August 1997). "Structure-function analysis of Msx2-mediated transcriptional suppression". Biochemistry. 36 (34): 10451–62.
  PMID 9265625
  .
• Stelnicki EJ, Kömüves LG, Holmes D, Clavin W, Harrison MR, Adzick NS, Largman C (October 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.
  PMID 9373945
  .
• 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.
  PMID 9522127
  .
• Newberry EP, Latifi T, Towler DA (August 1999). "The RRM domain of MINT, a novel Msx2 binding protein, recognizes and regulates the rat osteocalcin promoter". Biochemistry. 38 (33): 10678–90.
  PMID 10451362
  .
• Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE (April 2000). "Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification". Nature Genetics. 24 (4): 387–90.
  S2CID 21030594
  .
• 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.
  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 (Suppl A): S50-4.
  PMID 10831122
  .
• Masuda Y, Sasaki A, Shibuya H, Ueno N, Ikeda K, Watanabe K (February 2001). "Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function". The Journal of Biological Chemistry. 276 (7): 5331–8.
  PMID 11084035
  .
• Shirakabe K, Terasawa K, Miyama K, Shibuya H, Nishida E (October 2001). "Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5". Genes to Cells. 6 (10): 851–6.
  S2CID 22071040
  .

External links

• GeneReviews/NCBI/UW/NIH entry on Enlarged Parietal Foramina/Cranium Bifidum
• MSX2+protein,+human at the U.S. 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.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

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