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2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

Abstract : Nonsense mutations cause about 10% of genetic disease cases, and no treatments are available. Nonsense mutations can be corrected by molecules with nonsense mutation readthrough activity. An extract of the mushroom Lepista inversa has recently shown high-efficiency correction of UGA and UAA nonsense mutations. One active constituent of this extract is 2,6-diaminopurine (DAP). In Calu-6 cancer cells, in which TP53 gene has a UGA nonsense mutation, DAP treatment increases p53 level. It also decreases the growth of tumors arising from Calu-6 cells injected into immunodeficient nude mice. DAP acts by interfering with the activity of a tRNA-specific 2'-O-methyltransferase (FTSJ1) responsible for cytosine 34 modification in tRNATrp. Low-toxicity and high-efficiency UGA nonsense mutation correction make DAP a good candidate for the development of treatments for genetic diseases caused by nonsense mutations.
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https://hal.univ-lorraine.fr/hal-02515244
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Submitted on : Tuesday, March 24, 2020 - 10:44:10 AM
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Carole Trzaska, Séverine Amand, Christine Bailly, Catherine Leroy, Virginie Marchand, et al.. 2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations. Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.1509. ⟨10.1038/s41467-020-15140-z⟩. ⟨hal-02515244⟩

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