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MYF6

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens

MYF6
Identifiers
AliasesMYF6, CNM3, MRF4, bHLHc4, myf-6, Myf6, myogenic factor 6
External IDsOMIM:159991;MGI:97253;HomoloGene:1850;GeneCards:MYF6;OMA:MYF6 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for MYF6
Genomic location for MYF6
Band12q21.31Start80,707,634bp[1]
End80,709,474bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for MYF6
Genomic location for MYF6
Band10 D1|10 55.96 cMStart107,328,714bp[2]
End107,330,598bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • glutes

  • Skeletal muscle tissue of rectus abdominis

  • triceps brachii muscle

  • gastrocnemius muscle

  • biceps brachii

  • muscle of thigh

  • deltoid muscle

  • thoracic diaphragm

  • Skeletal muscle tissue of biceps brachii

  • quadriceps femoris muscle
Top expressed in
  • muscle of thigh

  • temporal muscle

  • medial head of gastrocnemius muscle

  • sternocleidomastoid muscle

  • triceps brachii muscle

  • digastric muscle

  • intercostal muscle

  • soleus muscle

  • extraocular muscle

  • quadriceps femoris muscle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4618

17878

Ensembl

ENSG00000111046

ENSMUSG00000035923

UniProt

P23409

P15375

RefSeq (mRNA)

NM_002469

NM_008657

RefSeq (protein)

NP_002460

NP_032683

Location (UCSC)Chr 12: 80.71 – 80.71 MbChr 10: 107.33 – 107.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myogenic factor 6 (also known as Mrf4 or herculin) is aprotein that in humans is encoded by the MYF6gene.[5]This gene is also known in the biomedical literature asMRF4 andherculin. MYF6 is amyogenic regulatory factor (MRF) involved in the process known asmyogenesis.[6][7]

Function

[edit]

MYF6/Mrf4 is a member of themyogenic factor (MRF) family of transcription factors that regulate skeletal musclemyogenesis and muscle regeneration. Myogenic factors arebasic helix-loop-helix (bHLH)transcription factors.MYF6 is a gene that encodes a protein involved in the regulation ofmyogenesis. 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 withMyf-5 in thesomites 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 theMYF6 gene are associated with autosomal dominantcentronuclear myopathy (ADCNM) andBecker's muscular dystrophy.[12]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000111046Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000035923Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^"Entrez Gene: Myogenic factor 6 (herculin)". Retrieved2013-08-19.
  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".The EMBO Journal.9 (3):821–831.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, et al. (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.
  8. ^Kassar-Duchossoy L, Gayraud-Morel B, Gomès D, Rocancourt D, Buckingham M, Shinin V, et al. (September 2004). "Mrf4 determines skeletal muscle identity in Myf5:Myod double-mutant mice".Nature.431 (7007):466–471.Bibcode:2004Natur.431..466K.doi:10.1038/nature02876.PMID 15386014.S2CID 4413512.
  9. ^Moretti I, Ciciliot S, Dyar KA, Abraham R, Murgia M, Agatea L, et al. (August 2016)."MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity".Nature Communications.7 12397.Bibcode:2016NatCo...712397M.doi:10.1038/ncomms12397.PMC 4976255.PMID 27484840.
  10. ^Arnold HH, Braun T (February 1996). "Targeted inactivation of myogenic factor genes reveals their role during mouse myogenesis: a review".The International Journal of Developmental Biology.40 (1):345–353.PMID 8735947.
  11. ^Hinits Y, Osborn DP, Carvajal JJ, Rigby PW, Hughes SM (August 2007)."Mrf4 (myf6) is dynamically expressed in differentiated zebrafish skeletal muscle".Gene Expression 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, et al. (December 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.S2CID 29535555.

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous
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