“MEF2C”的意思、由来-开放百科全书

Genomics

The gene is located at 5q14.3 on the minus (Crick) strand and is 200,723 bases in length. The encoded protein has 473 amino acids with a predicted molecular weight of 51.221 kiloDaltons. Three isoforms have been identified. Several post translational modifications have been identified including phosphorylation on serine-59 and serine-396, sumoylation on lysine-391, acetylation on lysine-4 and proteolytic cleavage.

Interactions

Biological significance

This gene is involved in cardiac morphogenesis and myogenesis and vascular development. It may also be involved in neurogenesis and in the development of cortical architecture. Mice without a functional copy of the Mef2c gene die before birth and have abnormalities in the heart and vascular system.^[12] It is one of the targets of an oncomiR, MIRN21.

In humans mutations of this gene result in autosomal dominant mental retardation 20 (MRD20),^[13] characterised by severe psychomotor impairment, periodic tremor and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features, mild thinning of the corpus callosum and delay of white matter myelination in the occipital lobes^[14]

MEF2C-binding site is associated with minor allele of SNP rs630923, associated with the risk of multiple sclerosis, and responsible for reduced CXCR5 gene promoter activity in B-cells during activation, that could lead to decreased autoimmune response ^[15]

See also

References

1. ^{{cite journal | vauthors = Leifer D, Krainc D, Yu YT, McDermott J, Breitbart RE, Heng J, Neve RL, Kosofsky B, Nadal-Ginard B, Lipton SA | title = MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 90 | issue = 4 | pages = 1546–50 | date = Feb 1993 | pmid = 7679508 | pmc = 45911 | doi = 10.1073/pnas.90.4.1546 }}
2. ^{{cite journal | vauthors = McDermott JC, Cardoso MC, Yu YT, Andres V, Leifer D, Krainc D, Lipton SA, Nadal-Ginard B | title = hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors | journal = Molecular and Cellular Biology | volume = 13 | issue = 4 | pages = 2564–77 | date = Apr 1993 | pmid = 8455629 | pmc = 359588 | doi = 10.1128/mcb.13.4.2564}}
3. ^{{cite journal | vauthors = Molkentin JD, Black BL, Martin JF, Olson EN | title = Mutational analysis of the DNA binding, dimerization, and transcriptional activation domains of MEF2C | journal = Molecular and Cellular Biology | volume = 16 | issue = 6 | pages = 2627–36 | date = Jun 1996 | pmid = 8649370 | pmc = 231253 | doi=10.1128/mcb.16.6.2627}}
4. ^{{cite web | title = Entrez Gene: MEF2C myocyte enhancer factor 2C| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4208| accessdate = }}
5. ^{{cite journal | vauthors = Sartorelli V, Huang J, Hamamori Y, Kedes L | title = Molecular mechanisms of myogenic coactivation by p300: direct interaction with the activation domain of MyoD and with the MADS box of MEF2C | journal = Molecular and Cellular Biology | volume = 17 | issue = 2 | pages = 1010–26 | date = Feb 1997 | pmid = 9001254 | pmc = 231826 | doi = 10.1128/mcb.17.2.1010}}
6. ^{{cite journal | vauthors = Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, Th'ng J, Han J, Yang XJ | title = HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor | journal = Molecular and Cellular Biology | volume = 19 | issue = 11 | pages = 7816–27 | date = Nov 1999 | pmid = 10523670 | pmc = 84849 | doi = 10.1128/mcb.19.11.7816}}
7. ^{{cite journal | vauthors = Wang AH, Yang XJ | title = Histone deacetylase 4 possesses intrinsic nuclear import and export signals | journal = Molecular and Cellular Biology | volume = 21 | issue = 17 | pages = 5992–6005 | date = Sep 2001 | pmid = 11486037 | pmc = 87317 | doi = 10.1128/MCB.21.17.5992-6005.2001 }}
8. ^{{cite journal | vauthors = Yang CC, Ornatsky OI, McDermott JC, Cruz TF, Prody CA | title = Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1 | journal = Nucleic Acids Research | volume = 26 | issue = 20 | pages = 4771–7 | date = Oct 1998 | pmid = 9753748 | pmc = 147902 | doi = 10.1093/nar/26.20.4771 }}
9. ^{{cite journal | vauthors = Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE | title = SOX18 directly interacts with MEF2C in endothelial cells | journal = Biochemical and Biophysical Research Communications | volume = 287 | issue = 2 | pages = 493–500 | date = Sep 2001 | pmid = 11554755 | doi = 10.1006/bbrc.2001.5589 }}
10. ^{{cite journal | vauthors = Krainc D, Bai G, Okamoto S, Carles M, Kusiak JW, Brent RN, Lipton SA | title = Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1 | journal = The Journal of Biological Chemistry | volume = 273 | issue = 40 | pages = 26218–24 | date = Oct 1998 | pmid = 9748305 | doi = 10.1074/jbc.273.40.26218 }}
11. ^{{cite journal | vauthors = Maeda T, Gupta MP, Stewart AF | title = TEF-1 and MEF2 transcription factors interact to regulate muscle-specific promoters | journal = Biochemical and Biophysical Research Communications | volume = 294 | issue = 4 | pages = 791–7 | date = Jun 2002 | pmid = 12061776 | doi = 10.1016/S0006-291X(02)00556-9 }}
12. ^{{cite journal | vauthors = Bi W, Drake CJ, Schwarz JJ | title = The transcription factor MEF2C-null mouse exhibits complex vascular malformations and reduced cardiac expression of angiopoietin 1 and VEGF | journal = Developmental Biology | volume = 211 | issue = 2 | pages = 255–67 | date = Jul 1999 | pmid = 10395786 | doi = 10.1006/dbio.1999.9307 }}
13. ^{{OMIM|613443}}
14. ^{{cite journal | vauthors = Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P | title = Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C | journal = American Journal of Medical Genetics Part B | volume = 153B | issue = 5 | pages = 1042–51 | date = Jul 2010 | pmid = 20333642 | doi = 10.1002/ajmg.b.31071 }}
15. ^{{cite journal | vauthors = Mitkin NA, Muratova AM, Schwartz AM, Kuprash DV | title = The A Allele of the Single-Nucleotide Polymorphism rs630923 Creates a Binding Site for MEF2C Resulting in Reduced CXCR5 Promoter Activity in B-Cell Lymphoblastic Cell Lines | journal = Front. Immunol. | volume = 7 | issue = 515 | pages = 515 | date = Nov 2016 | pmid = 27909439 | doi = 10.3389/fimmu.2016.00515 | pmc=5112242}}

Genomics

Interactions

Biological significance

See also

References

Further reading

External links