MYF6

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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
Band12q21.31Start80,707,498 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 (herculin) is a protein that in humans is encoded by the MYF6 gene. [5] Also known in the medical literature as MRF4 and herculin), MYF6 is a myogenic regulatory factor (MRF) in the process known as myogenesis.[6][7]

Function[edit]

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.[8] However, it is primarily expressed postnatally. This suggests that it serves an important role in the maintenance and repair of adult skeletal muscle.[8] 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.[9] 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.[10]

Clinical significance[edit]

Mutations in the MYF6 gene are associated with autosomal dominant centronuclear myopathy (ADCNM) and Becker's muscular dystrophy.[11]

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. PMC 551742Freely accessible. 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. ^ a b Moretti, I. et al. MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity. Nat. Commun. 7:12397 doi: 10.1038/ncomms12397 (2016).
  9. ^ 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. 
  10. ^ 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)
  11. ^ 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.