Biology:Msh homeobox 2

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Homeobox protein MSX-2 is a protein that in humans is encoded by the MSX2 gene.[1][2][3]

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.[3] 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.[4] Expression of msx2 leads to the proliferation, migration and osteogenic differentiation of neural crest cells during embryogenesis and bone fracture.[5] 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.[6][7] 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.[8] 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.[9]

Interactions

Msh homeobox 2 has been shown to interact with DLX5,[10] DLX2[10] and MSX1.[10]

References

  1. ↑ "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. May 1996. PMID 8668339. 
  2. ↑ "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. March 1996. doi:10.1007/BF02185781. PMID 8786091. 
  3. ↑ 3.0 3.1 "Entrez Gene: MSX2 msh homeobox 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4488. 
  4. ↑ Rifas, L (July 1997). "Gestational exposure to ethanol suppresses msx2 expression in developing mouse embryos.". Proc Natl Acad Sci U S A 94 (14): 7549–54. doi:10.1073/pnas.94.14.7549. PMID 9207129. Bibcode: 1997PNAS...94.7549R. 
  5. ↑ "microRNA-203 promotes proliferation, differentiation, and migration of osteoblasts by upregulation of Msh homeobox 2". Journal of Cellular Physiology 234 (10): 17639–17648. March 2019. doi:10.1002/jcp.28387. PMID 30854680. 
  6. ↑ "The expressions of claudin-1 and E-cadherin in junctional epithelium". Journal of Periodontal Research 45 (4): 579–82. August 2010. doi:10.1111/j.1600-0765.2009.01258.x. PMID 20337884. 
  7. ↑ "Wogonin suppresses human alveolar adenocarcinoma cell A549 migration in inflammatory microenvironment by modulating the IL-6/STAT3 signaling pathway". Molecular Carcinogenesis 54 (Suppl 1): E81-93. June 2015. doi:10.1002/mc.22182. PMID 24976450. 
  8. ↑ "Lens-specific deletion of the Msx2 gene increased apoptosis by enhancing the caspase-3/caspase-8 signaling pathway". The Journal of International Medical Research 46 (7): 2843–2855. July 2018. doi:10.1177/0300060518774687. PMID 29921154. 
  9. ↑ "Genetic basis of potential therapeutic strategies for craniosynostosis". American Journal of Medical Genetics. Part A 152A (12): 3007–15. December 2010. doi:10.1002/ajmg.a.33703. PMID 21082653. 
  10. ↑ 10.0 10.1 10.2 "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism". Molecular and Cellular Biology 17 (5): 2920–32. May 1997. doi:10.1128/mcb.17.5.2920. PMID 9111364. 

Further reading

  • "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. July 1993. doi:10.1006/bbrc.1993.1802. PMID 7687426. 
  • "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. April 1995. doi:10.1006/bbrc.1995.1497. PMID 7726844. 
  • "[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. December 1994. doi:10.5357/koubyou.61.590. PMID 7897272. 
  • "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. July 1993. doi:10.1016/0167-4781(93)90086-s. PMID 8101453. 
  • "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis". Cell 75 (3): 443–50. November 1993. doi:10.1016/0092-8674(93)90379-5. PMID 8106171. 
  • "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. December 1996. doi:10.1093/hmg/5.12.1915. PMID 8968743. 
  • "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. March 1997. doi:10.1016/S0378-1119(96)00706-8. PMID 9073066. 
  • "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism". Molecular and Cellular Biology 17 (5): 2920–32. May 1997. doi:10.1128/mcb.17.5.2920. PMID 9111364. 
  • "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. July 1997. doi:10.1016/S0925-4773(97)00032-4. PMID 9256341. 
  • "Structure-function analysis of Msx2-mediated transcriptional suppression". Biochemistry 36 (34): 10451–62. August 1997. doi:10.1021/bi971008x. PMID 9265625. 
  • "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. October 1997. doi:10.1046/j.1432-0436.1997.6210033.x. PMID 9373945. 
  • "Characterization of two length cDNA for human MSX-2 from dental pulp-derived cells". DNA Sequence 8 (1–2): 87–92. 1998. doi:10.3109/10425179709020891. PMID 9522127. 
  • "The RRM domain of MINT, a novel Msx2 binding protein, recognizes and regulates the rat osteocalcin promoter". Biochemistry 38 (33): 10678–90. August 1999. doi:10.1021/bi990967j. PMID 10451362. 
  • "Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification". Nature Genetics 24 (4): 387–90. April 2000. doi:10.1038/74224. PMID 10742103. 
  • "Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna". Human Molecular Genetics 9 (8): 1251–5. May 2000. doi:10.1093/hmg/9.8.1251. PMID 10767351. 
  • "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. 2000. doi:10.1053/plac.1999.0514. PMID 10831122. 
  • "Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function". The Journal of Biological Chemistry 276 (7): 5331–8. February 2001. doi:10.1074/jbc.M008590200. PMID 11084035. 
  • "Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5". Genes to Cells 6 (10): 851–6. October 2001. doi:10.1046/j.1365-2443.2001.00466.x. PMID 11683913. 

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.




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