Msh homeobox 2: Difference between revisions
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{{ | '''Homeobox protein MSX-2''' is a [[protein]] that in humans is encoded by the ''MSX2'' [[gene]].<ref name="pmid8668339">{{cite journal | vauthors = Takahashi C, Akiyama N, Matsuzaki T, Takai S, Kitayama H, Noda M | title = Characterization of a human MSX-2 cDNA and its fragment isolated as a transformation suppressor gene against v-Ki-ras oncogene | journal = Oncogene | volume = 12 | issue = 10 | pages = 2137–46 | date = May 1996 | pmid = 8668339 | pmc = | doi = }}</ref><ref name="pmid8786091">{{cite journal | vauthors = Kostrzewa M, Grady DL, Moyzis RK, Flöter L, Müller U | title = Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35 | journal = Human Genetics | volume = 97 | issue = 3 | pages = 399–403 | date = Mar 1996 | pmid = 8786091 | pmc = | doi = 10.1007/BF02185781 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MSX2 msh homeobox 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4488| accessdate = }}</ref> | ||
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== 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.<ref name="entrez"/> | |||
==References== | == Interactions == | ||
{{reflist | |||
==Further reading== | Msh homeobox 2 has been shown to [[Protein-protein interaction|interact]] with [[DLX5]],<ref name=pmid9111364>{{cite journal | vauthors = Zhang H, Hu G, Wang H, Sciavolino P, Iler N, Shen MM, Abate-Shen C | title = Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism | journal = Molecular and Cellular Biology | volume = 17 | issue = 5 | pages = 2920–32 | date = May 1997 | pmid = 9111364 | pmc = 232144 | doi=10.1128/mcb.17.5.2920}}</ref> [[DLX2]]<ref name=pmid9111364/> and [[MSX1]].<ref name=pmid9111364/> | ||
== References == | |||
{{reflist}} | |||
== Further reading == | |||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Suzuki M, Tanaka M, Iwase T, Naito Y, Sugimura H, Kino I | title = Over-expression of HOX-8, the human homologue of the mouse Hox-8 homeobox gene, in human tumors | journal = Biochemical and Biophysical Research Communications | volume = 194 | issue = 1 | pages = 187–93 | date = Jul 1993 | pmid = 7687426 | doi = 10.1006/bbrc.1993.1802 }} | |||
* {{cite journal | vauthors = Semenza GL, Wang GL, Kundu R | title = DNA binding and transcriptional properties of wild-type and mutant forms of the homeodomain protein Msx2 | journal = Biochemical and Biophysical Research Communications | volume = 209 | issue = 1 | pages = 257–62 | date = Apr 1995 | pmid = 7726844 | doi = 10.1006/bbrc.1995.1497 }} | |||
*{{cite journal | * {{cite journal | vauthors = Iimura T | title = [Molecular cloning and expression of homeobox-containing genes during hard tissue development] | journal = Kōkūbyō Gakkai Zasshi. The Journal of the Stomatological Society, Japan | volume = 61 | issue = 4 | pages = 590–604 | date = Dec 1994 | pmid = 7897272 | doi = 10.5357/koubyou.61.590 }} | ||
*{{cite journal | * {{cite journal | vauthors = Hodgkinson JE, Davidson CL, Beresford J, Sharpe PT | title = Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells | journal = Biochimica et Biophysica Acta | volume = 1174 | issue = 1 | pages = 11–6 | date = Jul 1993 | pmid = 8101453 | doi = 10.1016/0167-4781(93)90086-s }} | ||
*{{cite journal | * {{cite journal | vauthors = Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB | title = A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis | journal = Cell | volume = 75 | issue = 3 | pages = 443–50 | date = Nov 1993 | pmid = 8106171 | doi = 10.1016/0092-8674(93)90379-5 }} | ||
*{{cite journal | * {{cite journal | vauthors = Ma L, Golden S, Wu L, Maxson R | title = 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 | journal = Human Molecular Genetics | volume = 5 | issue = 12 | pages = 1915–20 | date = Dec 1996 | pmid = 8968743 | doi = 10.1093/hmg/5.12.1915 }} | ||
*{{cite journal | * {{cite journal | vauthors = Quinn LM, Johnson BV, Nicholl J, Sutherland GR, Kalionis B | title = Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4 | journal = Gene | volume = 187 | issue = 1 | pages = 55–61 | date = Mar 1997 | pmid = 9073066 | doi = 10.1016/S0378-1119(96)00706-8 }} | ||
*{{cite journal | * {{cite journal | vauthors = Zhang H, Hu G, Wang H, Sciavolino P, Iler N, Shen MM, Abate-Shen C | title = Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism | journal = Molecular and Cellular Biology | volume = 17 | issue = 5 | pages = 2920–32 | date = May 1997 | pmid = 9111364 | pmc = 232144 | doi = 10.1128/mcb.17.5.2920}} | ||
*{{cite journal | * {{cite journal | vauthors = Wu L, Wu H, Ma L, Sangiorgi F, Wu N, Bell JR, Lyons GE, Maxson R | title = Miz1, a novel zinc finger transcription factor that interacts with Msx2 and enhances its affinity for DNA | journal = Mechanisms of Development | volume = 65 | issue = 1-2 | pages = 3–17 | date = Jul 1997 | pmid = 9256341 | doi = 10.1016/S0925-4773(97)00032-4 }} | ||
*{{cite journal | * {{cite journal | vauthors = Newberry EP, Latifi T, Battaile JT, Towler DA | title = Structure-function analysis of Msx2-mediated transcriptional suppression | journal = Biochemistry | volume = 36 | issue = 34 | pages = 10451–62 | date = Aug 1997 | pmid = 9265625 | doi = 10.1021/bi971008x }} | ||
*{{cite journal | * {{cite journal | vauthors = Stelnicki EJ, Kömüves LG, Holmes D, Clavin W, Harrison MR, Adzick NS, Largman C | title = The human homeobox genes MSX-1, MSX-2, and MOX-1 are differentially expressed in the dermis and epidermis in fetal and adult skin | journal = Differentiation; Research in Biological Diversity | volume = 62 | issue = 1 | pages = 33–41 | date = Oct 1997 | pmid = 9373945 | doi = 10.1046/j.1432-0436.1997.6210033.x }} | ||
*{{cite journal | * {{cite journal | vauthors = Iimura T, Takeda K, Goseki M, Maruoka Y, Sasaki S, Oida S | title = Characterization of two length cDNA for human MSX-2 from dental pulp-derived cells | journal = DNA Sequence | volume = 8 | issue = 1-2 | pages = 87–92 | year = 1998 | pmid = 9522127 | doi = 10.3109/10425179709020891 }} | ||
*{{cite journal | * {{cite journal | vauthors = Newberry EP, Latifi T, Towler DA | title = The RRM domain of MINT, a novel Msx2 binding protein, recognizes and regulates the rat osteocalcin promoter | journal = Biochemistry | volume = 38 | issue = 33 | pages = 10678–90 | date = Aug 1999 | pmid = 10451362 | doi = 10.1021/bi990967j }} | ||
*{{cite journal | * {{cite journal | vauthors = Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE | title = Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification | journal = Nature Genetics | volume = 24 | issue = 4 | pages = 387–90 | date = Apr 2000 | pmid = 10742103 | doi = 10.1038/74224 }} | ||
*{{cite journal | * {{cite journal | vauthors = Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W | title = Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna | journal = Human Molecular Genetics | volume = 9 | issue = 8 | pages = 1251–5 | date = May 2000 | pmid = 10767351 | doi = 10.1093/hmg/9.8.1251 }} | ||
*{{cite journal | * {{cite journal | vauthors = Quinn LM, Latham SE, Kalionis B | title = The homeobox genes MSX2 and MOX2 are candidates for regulating epithelial-mesenchymal cell interactions in the human placenta | journal = Placenta | volume = 21 Suppl A | issue = Suppl A | pages = S50-4 | year = 2000 | pmid = 10831122 | doi = 10.1053/plac.1999.0514 }} | ||
*{{cite journal | * {{cite journal | vauthors = Masuda Y, Sasaki A, Shibuya H, Ueno N, Ikeda K, Watanabe K | title = Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function | journal = The Journal of Biological Chemistry | volume = 276 | issue = 7 | pages = 5331–8 | date = Feb 2001 | pmid = 11084035 | doi = 10.1074/jbc.M008590200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Shirakabe K, Terasawa K, Miyama K, Shibuya H, Nishida E | title = Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5 | journal = Genes to Cells | volume = 6 | issue = 10 | pages = 851–6 | date = Oct 2001 | pmid = 11683913 | doi = 10.1046/j.1365-2443.2001.00466.x }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
== External links == | == External links == | ||
* [https://www.ncbi.nlm.nih.gov/books/NBK1128/ GeneReviews/NCBI/UW/NIH entry on Enlarged Parietal Foramina/Cranium Bifidum] | |||
* {{MeshName|MSX2+protein,+human}} | * {{MeshName|MSX2+protein,+human}} | ||
* {{UCSC genome browser|MSX2}} | |||
* {{UCSC gene details|MSX2}} | |||
{{NLM content}} | |||
{{PDB Gallery|geneid=4488}} | |||
{{Transcription factors|g3}} | |||
{{DEFAULTSORT:Msh Homeobox 2}} | |||
{{ | |||
[[Category:Transcription factors]] | [[Category:Transcription factors]] | ||
[[Category:Human proteins]] | |||
{{gene-5-stub}} |
Latest revision as of 09:08, 5 September 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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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]
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 (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. PMID 8668339.
- ↑ 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. PMID 8786091.
- ↑ 3.0 3.1 "Entrez Gene: MSX2 msh homeobox 2".
- ↑ 4.0 4.1 4.2 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. doi:10.1128/mcb.17.5.2920. PMC 232144. PMID 9111364.
Further reading
- 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. PMID 7687426.
- 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. PMID 7726844.
- 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. PMID 7897272.
- 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. PMID 8101453.
- 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. PMID 8106171.
- 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. PMID 8968743.
- 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. 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. doi:10.1128/mcb.17.5.2920. PMC 232144. PMID 9111364.
- 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. PMID 9256341.
- Newberry EP, Latifi T, Battaile JT, Towler DA (Aug 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, 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. 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. doi:10.3109/10425179709020891. PMID 9522127.
- 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. PMID 10451362.
- 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. PMID 10742103.
- 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. 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. doi:10.1053/plac.1999.0514. PMID 10831122.
- 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. PMID 11084035.
- 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. PMID 11683913.
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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