MYF6

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
MYF6
Identifiers
AliasesMYF6, CNM3, MRF4, bHLHc4, myf-6, Myf6, myogenic factor 6
External IDsMGI: 97253 HomoloGene: 1850 GeneCards: MYF6
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for MYF6
Genomic location for MYF6
Band12q21.31Start80,707,634 bp[1]
End80,709,474 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002469

NM_008657

RefSeq (protein)

NP_002460

NP_032683

Location (UCSC)Chr 12: 80.71 – 80.71 MbChr 10: 107.49 – 107.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myogenic factor 6 (also known as Mrf4 or herculin) is a protein that in humans is encoded by the MYF6 gene. [5] This gene is also known in the biomedical literature as MRF4 and herculin. MYF6 is a myogenic regulatory factor (MRF) involved in the process known as myogenesis.[6][7]

Function[edit]

MYF6/Mrf4 is a member of the myogenic factor (MRF) family of transcription factors that regulate skeletal muscle myogenesis and muscle regeneration. Myogenic factors are basic helix-loop-helix (bHLH) transcription factors. MYF6 is a gene that encodes a protein involved in the regulation of myogenesis. The precise role(s) of Myf6/Mrf4 in myogenesis are unclear, although in mice it is able to initiate myogenesis in the absence of Myf5 and MyoD, two other MRFs.[8] The portion of the protein integral to myogenesis regulation requires the basic helix-loop-helix (bHLH) domain that is conserved among all of the genes in the MRF family.

MYF6 is expressed exclusively in skeletal muscle, and it is expressed at a higher levels in adult skeletal muscle than all of the other MRF family genes. In mouse, Myf6/Mrf4 differs somewhat from the other MRF genes due to its two-phase expression. Initially, Myf6 is transiently expressed along with Myf-5 in the somites during the early stages of myogenesis. However, it is more noticeably expressed postnatally. This suggests that it serves an important role in the maintenance and repair of adult skeletal muscle.[9]

The MYF6 gene is physically linked to the MYF5 gene on chromosome 12, and similar linkage is observed in all vertebrates. Mutations in the mouse Myf6 gene typically exhibit reduced levels of Myf5.[10] Despite reductions in muscle mass of the back and defective rib formation, Myf6 mutants still exhibit fairly normal skeletal muscle. This demonstrates that Myf6 is not essential for the formation of most myofibers, at least in the strains of mice tested.

In zebrafish, Myf6/Mrf4 is expressed in all terminally differentiated muscle examined, but expression has not been reported in muscle precursor cells.[11]

Clinical significance[edit]

Mutations in the MYF6 gene are associated with autosomal dominant centronuclear myopathy (ADCNM) and Becker's muscular dystrophy.[12]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111046 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035923 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: Myogenic factor 6 (herculin)". Retrieved 2013-08-19.
  6. ^ 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. doi:10.1002/j.1460-2075.1990.tb08179.x. PMC 551742. PMID 2311584.
  7. ^ 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.
  8. ^ Kassar-Duchossoy L, Gayraud-Morel B, Gomes D, Rocancourt D, Buckingham M, Shinin V, Tajbakhsh S (2004). "Mrf4 determines skeletal muscle identity in Myf5:Myod double-mutant mice". Nature. 431 (7007): 466–71. doi:10.1038/nature02876. PMID 15386014.
  9. ^ Moretti, I. et al. MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity. Nat. Commun. 7:12397 doi: 10.1038/ncomms12397 (2016).
  10. ^ 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.
  11. ^ Hinits Y, Osborn DP, Carvajal JJ, Rigby PW, Hughes SM (2007). "Mrf4 (myf6) is dynamically expressed in differentiated zebrafish skeletal muscle". Gene Expr Patterns. 7 (7): 738–745. doi:10.1016/j.modgep.2007.06.003. PMC 3001336. PMID 17638597.
  12. ^ 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[edit]

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