2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations - Université de Lorraine Access content directly
Journal Articles Nature Communications Year : 2020

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

Eric Westhof
  • Function : Author
  • PersonId : 837072

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.
Fichier principal
Vignette du fichier
2-6-Diaminopurine_as_a_highly_potent_corrector_of_UGA.pdf (1.46 Mo) Télécharger le fichier
Origin : Publication funded by an institution
Loading...

Dates and versions

hal-02515244 , version 1 (24-03-2020)

Licence

Attribution

Identifiers

Cite

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, 2020, 11 (1), pp.1509. ⟨10.1038/s41467-020-15140-z⟩. ⟨hal-02515244⟩
375 View
189 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More