MYF6: Difference between revisions
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MYF-6 is expressed exclusively in skeletal muscle, and it is expressed at a higher levels in adult skeletal muscle than all of the other genes in the muscle regulatory factor factor gene family. MYF-6 is different from the other myogenic regulatory factor genes due to its two-phase expression. Initially, MYF-6 is transiently expressed along with [[MYF5|MYF-5]] in the [[somite]]s during the early stages of myogenesis.<ref name=":0">Moretti, I. ''et al''. MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity. ''Nat. Commun.'' 7:12397 doi: 10.1038/ncomms12397 (2016).</ref> However, it is primarily expressed postnatally. This suggests that it serves an important role in the maintenance and repair of adult skeletal muscle.<ref name=":0" /> The role of MYF-6 expression in the somites during embryogenesis is currently unknown. | MYF-6 is expressed exclusively in skeletal muscle, and it is expressed at a higher levels in adult skeletal muscle than all of the other genes in the muscle regulatory factor factor gene family. MYF-6 is different from the other myogenic regulatory factor genes due to its two-phase expression. Initially, MYF-6 is transiently expressed along with [[MYF5|MYF-5]] in the [[somite]]s during the early stages of myogenesis.<ref name=":0">Moretti, I. ''et al''. MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity. ''Nat. Commun.'' 7:12397 doi: 10.1038/ncomms12397 (2016).</ref> However, it is primarily expressed postnatally. This suggests that it serves an important role in the maintenance and repair of adult skeletal muscle.<ref name=":0" /> The role of MYF-6 expression in the somites during embryogenesis is currently unknown. | ||
The MYF-6 gene is physically linked to the MYF-5 gene on chromosome 12, and mutations in the MYF-6 gene typically exhibit reduced levels of MYF-5.<ref>{{Cite journal|last=Arnold|first=H. H.|last2=Braun|first2=T.|date=1996-02-01|title=Targeted inactivation of myogenic factor genes reveals their role during mouse myogenesis: a review | The MYF-6 gene is physically linked to the MYF-5 gene on chromosome 12, and mutations in the MYF-6 gene typically exhibit reduced levels of MYF-5.<ref>{{Cite journal|last=Arnold|first=H. H.|last2=Braun|first2=T.|date=1996-02-01|title=Targeted inactivation of myogenic factor genes reveals their role during mouse myogenesis: a review|journal=The International Journal of Developmental Biology|volume=40|issue=1|pages=345–353|issn=0214-6282|pmid=8735947}}</ref> Despite reductions in muscle mass of the back, MYF6 mutants still exhibit fairly normal skeletal muscle. While this demonstrates that MYF-6 might not be essential for the formation of myofibers, it is thought that [[myogenin]] compensates for the absence of functional MYF-6.<ref>Miner J. H. & Wold B. Herculin, a fourth member of the MyoD family of myogenic regulatory genes. Proc Natl Acad Sci USA 87, 1089–1093 (1990)</ref> | ||
== Clinical significance == | == Clinical significance == | ||
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| last10 = Hübner | first10 = C. | | last10 = Hübner | first10 = C. | ||
| title = Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy | | title = Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy | ||
| journal = Neuromuscular | | journal = Neuromuscular Disorders | ||
| volume = 10 | | volume = 10 | ||
| issue = 8 | | issue = 8 | ||
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{{Transcription factors|g1}} | {{Transcription factors|g1}} | ||
[[Category:Transcription factors]] | [[Category:Transcription factors]] | ||
{{gene-12-stub}} | {{gene-12-stub}} | ||
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Myogenic factor 6 (herculin) is a protein that in humans is encoded by the MYF6 gene. [1] Also known in the medical literature as MRF4 and herculin), MYF6 is a myogenic regulatory factor (MRF) in the process known as myogenesis.[2][3]
Function
MYF6 is a member of the myogenic factors (MYF) family that regulate myogenesis and muscle regeneration. Myogenics factor are basic helix-loop-helix (bHLH) transcription factors. MYF-6 is a gene that encodes a protein involved in the regulation of myogenesis. Specifically, it induces the maturation of myotubes into myofibers. The portion of the protein integral to myogenesis regulation is a basic helix-loop-helix (bHLH) domain that is conserved among all of the genes in the MRF family.
MYF-6 is expressed exclusively in skeletal muscle, and it is expressed at a higher levels in adult skeletal muscle than all of the other genes in the muscle regulatory factor factor gene family. MYF-6 is different from the other myogenic regulatory factor genes due to its two-phase expression. Initially, MYF-6 is transiently expressed along with MYF-5 in the somites during the early stages of myogenesis.[4] However, it is primarily expressed postnatally. This suggests that it serves an important role in the maintenance and repair of adult skeletal muscle.[4] The role of MYF-6 expression in the somites during embryogenesis is currently unknown.
The MYF-6 gene is physically linked to the MYF-5 gene on chromosome 12, and mutations in the MYF-6 gene typically exhibit reduced levels of MYF-5.[5] Despite reductions in muscle mass of the back, MYF6 mutants still exhibit fairly normal skeletal muscle. While this demonstrates that MYF-6 might not be essential for the formation of myofibers, it is thought that myogenin compensates for the absence of functional MYF-6.[6]
Clinical significance
Mutations in the MYF6 gene are associated with autosomal dominant centronuclear myopathy (ADCNM) and Becker's muscular dystrophy.[7]
References
- ↑ "Entrez Gene: Myogenic factor 6 (herculin)". Retrieved 2013-08-19.
- ↑ Braun T, Bober E, Winter B, Rosenthal N, Arnold HH (March 1990). "Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12". EMBO J. 9 (3): 821–31. PMC 551742. PMID 2311584.
- ↑ Cupelli L, Renault B, Leblanc-Straceski J, Banks A, Ward D, Kucherlapati RS, Krauter K (1996). "Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106". Cytogenet. Cell Genet. 72 (2–3): 250–1. doi:10.1159/000134201. PMID 8978788.
- ↑ 4.0 4.1 Moretti, I. et al. MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity. Nat. Commun. 7:12397 doi: 10.1038/ncomms12397 (2016).
- ↑ Arnold, H. H.; Braun, T. (1996-02-01). "Targeted inactivation of myogenic factor genes reveals their role during mouse myogenesis: a review". The International Journal of Developmental Biology. 40 (1): 345–353. ISSN 0214-6282. PMID 8735947.
- ↑ Miner J. H. & Wold B. Herculin, a fourth member of the MyoD family of myogenic regulatory genes. Proc Natl Acad Sci USA 87, 1089–1093 (1990)
- ↑ Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hübner C (December 2000). "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy". Neuromuscul. Disord. 10 (8): 572–7. doi:10.1016/S0960-8966(00)00150-4. PMID 11053684.
Further reading
- Braun, T.; Arnold, H. H. (1991). "The four human muscle regulatory helix-loop-helix proteins Myf3-Myf6 exhibit similar hetero-dimerization and DNA binding properties". Nucleic Acids Research. 19 (20): 5645–5651. doi:10.1093/nar/19.20.5645. PMC 328970. PMID 1945842.
- Langlands, K.; Yin, X.; Anand, G.; Prochownik, E. V. (1997). "Differential interactions of Id proteins with basic-helix-loop-helix transcription factors". The Journal of Biological Chemistry. 272 (32): 19785–19793. doi:10.1074/jbc.272.32.19785. PMID 9242638.
- Kong, Y.; Flick, M. J.; Kudla, A. J.; Konieczny, S. F. (1997). "Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD". Molecular and Cellular Biology. 17 (8): 4750–4760. doi:10.1128/mcb.17.8.4750. PMC 232327. PMID 9234731.
- Onions, J.; Hermann, S.; Grundström, T. (2000). "A novel type of calmodulin interaction in the inhibition of basic helix-loop-helix transcription factors". Biochemistry. 39 (15): 4366–4374. doi:10.1021/bi992533u. PMID 10757985.
- Cupelli, L.; Renault, B.; Leblanc-Straceski, J.; Banks, A.; Ward, D.; Kucherlapati, R. S.; Krauter, K. (1996). "Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106". Cytogenetics and Cell Genetics. 72 (2–3): 250–251. doi:10.1159/000134201. PMID 8978788.
- Kosek, D. J.; Kim, J. S.; Petrella, J. K.; Cross, J. M.; Bamman, M. M. (2006). "Efficacy of 3 days/wk resistance training on myofiber hypertrophy and myogenic mechanisms in young vs. Older adults". Journal of Applied Physiology. 101 (2): 531–544. doi:10.1152/japplphysiol.01474.2005. PMID 16614355.
- Black, B. L.; Molkentin, J. D.; Olson, E. N. (1998). "Multiple roles for the MyoD basic region in transmission of transcriptional activation signals and interaction with MEF2". Molecular and Cellular Biology. 18 (1): 69–77. doi:10.1128/mcb.18.1.69. PMC 121453. PMID 9418854.
- Braun, T.; Bober, E.; Winter, B.; Rosenthal, N.; Arnold, H. H. (1990). "Myf-6, a new member of the human gene family of myogenic determination factors: Evidence for a gene cluster on chromosome 12". The EMBO Journal. 9 (3): 821–831. PMC 551742. PMID 2311584.
- Kerst, B.; Mennerich, D.; Schuelke, M.; Stoltenburg-Didinger, G.; Von Moers, A.; Gossrau, R.; Van Landeghem, F. K.; Speer, A.; Braun, T.; Hübner, C. (2000). "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy". Neuromuscular Disorders. 10 (8): 572–577. doi:10.1016/S0960-8966(00)00150-4. PMID 11053684.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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