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MYF6
Identifiers
Aliases	MYF6, CNM3, MRF4, bHLHc4, myf-6, Myf6, myogenic factor 6
External IDs	OMIM: 159991; MGI: 97253; HomoloGene: 1850; GeneCards: MYF6; OMA:MYF6 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12q21.31 Start 80,707,634 bp End 80,709,474 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 D1|10 55.96 cM Start 107,328,714 bp End 107,330,598 bp
RNA expression pattern Bgee Human Mouse (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 DNA binding protein dimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding E-box binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleoplasm RNA polymerase II transcription regulator complex nucleus Biological process somitogenesis cell differentiation regulation of transcription, DNA-templated positive regulation of muscle cell differentiation regulation of transcription by RNA polymerase II muscle cell fate commitment muscle organ development transcription by RNA polymerase II positive regulation of skeletal muscle fiber development multicellular organism development positive regulation of transcription, DNA-templated positive regulation of myoblast fusion skeletal muscle tissue regeneration positive regulation of myoblast differentiation muscle tissue morphogenesis skeletal muscle cell differentiation negative regulation of transcription, DNA-templated skeletal muscle tissue development positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 10: 107.33 – 107.33 Mb PubMed search
Wikidata
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Myogenic factor 6 (also known as Mrf4 or herculin) is a protein that in humans is encoded by the MYF6 gene. 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.

Function

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. 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.

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. 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.

Clinical significance

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000111046 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000035923 – Ensembl, 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)". 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". 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

• Braun T, Arnold HH (October 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 EV (August 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 MJ, Kudla AJ, Konieczny SF (August 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 (April 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 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.
• Kosek DJ, Kim JS, Petrella JK, Cross JM, Bamman MM (August 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 BL, Molkentin JD, Olson EN (January 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 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.
• 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.

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

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