Biology:MEF2B

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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

Myocyte enhancer binding factor 2B (MEF2B) is a transcription factor part of the MEF2 gene family including MEF2A, MEF2C, and MEF2D.[1][2] However, MEF2B is distant from the other three branches of MEF2 genes as it lacks the protein-coding Holliday junction recognition protein C-terminal (HJURP_C) region in vertebrates.[3]

Functions

The MEF2 gene family is expressed in muscle-specific gene activation and maintenance during development.[3][4] MEF2B mRNA is present in skeletal, smooth, brain and heart muscles.[5] MEF2B is directly involved in smooth muscle myosin heavy chain (SMHC) gene regulation. Overexpression of MEF2B will activate the SMHC promoter in smooth muscle when it is bound to the A/T-rich element of the promoter.[5]

Interactions

MEF2B has been shown to interact with CABIN1.[6][7]

Clinical relevance

Recurrent mutations in this gene have been associated with cases of diffuse large B-cell lymphoma.[8] In its mutated form, MEF2B can lead to deregulation of the proto-oncogene BCL6 expression in diffuse large B-cell lymphomas (DLBCL).[9] Mutations of MEF2B enhance its transcriptional activity due to either a disruption with its corepressor CABIN1 or causing the gene to become insensitive to inhibitory signaling events.[9]

See also

References

  1. Krenács, Dóra; Borbényi, Zita; Bedekovics, Judit; Méhes, Gábor; Bagdi, Enikő; Krenács, László (2015-09-01). "Pattern of MEF2B expression in lymphoid tissues and in malignant lymphomas". Virchows Archiv 467 (3): 345–355. doi:10.1007/s00428-015-1796-6. ISSN 1432-2307. PMID 26089142. https://publicatio.bibl.u-szeged.hu/27166/1/Krenacs.pdf. 
  2. Rodríguez, Andrés I.; Csányi, Gábor; Ranayhossaini, Daniel J.; Feck, Douglas M.; Blose, Kory J.; Assatourian, Lillian; Vorp, David A.; Pagano, Patrick J. (2015-02-01). "MEF2B-Nox1 signaling is critical for stretch-induced phenotypic modulation of vascular smooth muscle cells". Arteriosclerosis, Thrombosis, and Vascular Biology 35 (2): 430–438. doi:10.1161/ATVBAHA.114.304936. ISSN 1524-4636. PMID 25550204. 
  3. 3.0 3.1 Wu, Wenwu; de Folter, Stefan; Shen, Xia; Zhang, Wenqian; Tao, Shiheng (2011-01-01). "Vertebrate paralogous MEF2 genes: origin, conservation, and evolution". PLOS ONE 6 (3): e17334. doi:10.1371/journal.pone.0017334. ISSN 1932-6203. PMID 21394201. Bibcode2011PLoSO...617334W. 
  4. Buchberger, A.; Arnold, H. H. (1999-06-01). "The MADS domain containing transcription factor cMef2a is expressed in heart and skeletal muscle during embryonic chick development". Development Genes and Evolution 209 (6): 376–381. doi:10.1007/s004270050267. ISSN 0949-944X. PMID 10370120. 
  5. 5.0 5.1 Katoh, Y.; Molkentin, J. D.; Dave, V.; Olson, E. N.; Periasamy, M. (1998-01-16). "MEF2B is a component of a smooth muscle-specific complex that binds an A/T-rich element important for smooth muscle myosin heavy chain gene expression". The Journal of Biological Chemistry 273 (3): 1511–1518. doi:10.1074/jbc.273.3.1511. ISSN 0021-9258. PMID 9430690. 
  6. "Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2". Nature 422 (6933): 730–4. Apr 2003. doi:10.1038/nature01555. PMID 12700764. Bibcode2003Natur.422..730H. 
  7. "Apoptosis of T cells mediated by Ca2+-induced release of the transcription factor MEF2". Science 286 (5440): 790–3. Oct 1999. doi:10.1126/science.286.5440.790. PMID 10531067. 
  8. "Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma". Nature 476 (7360): 298–303. Aug 2011. doi:10.1038/nature10351. PMID 21796119. PMC 3210554. Bibcode2011Natur.476..298M. https://researchonline.jcu.edu.au/43192/6/43192_Morin%20et%20al_2011.pdf. 
  9. 9.0 9.1 Ying, Carol Y.; Dominguez-Sola, David; Fabi, Melissa; Lorenz, Ivo C.; Hussein, Shafinaz; Bansal, Mukesh; Califano, Andrea; Pasqualucci, Laura et al. (2013-10-01). "MEF2B mutations lead to deregulated expression of the oncogene BCL6 in diffuse large B cell lymphoma". Nature Immunology 14 (10): 1084–1092. doi:10.1038/ni.2688. ISSN 1529-2916. PMID 23974956. 

Further reading

External links