Review
doi: 10.1016/j.gde.2014.05.006.
Epub 2014 Jul 5.
Dynamic RNA modifications in disease
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- PMID: 25005745
- DOI: 10.1016/j.gde.2014.05.006
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Review
Dynamic RNA modifications in disease
Curr Opin Genet Dev.
2014 Jun.
Abstract
While the presence of 6-methyladenosine (m6A) modifications in mRNA was noted several decades ago, the first enzyme reversing this modification was identified very recently. Today we know of two methyltransferases introducing m6A in mRNA--METTL3 and METTL14--and two demethylases that remove it have been identified-FTO (ALKBH9) and ALKBH5. The conserved role of m6A seems to relate to meiosis, and mice lacking ALKBH5 are infertile. While loss-of-function mutation in FTO causes a recessive lethal syndrome, sequence variants in introns of the FTO gene are associated with obesity and type 2 diabetes.
Copyright © 2014 Elsevier Ltd. All rights reserved.
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