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Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons.
Melfi, Raffaella; Cancemi, Patrizia; Chiavetta, Roberta; Barra, Viviana; Lentini, Laura; Di Leonardo, Aldo.
Afiliación
  • Melfi R; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo, 90128 Palermo, Italy.
  • Cancemi P; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo, 90128 Palermo, Italy.
  • Chiavetta R; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo, 90128 Palermo, Italy.
  • Barra V; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo, 90128 Palermo, Italy.
  • Lentini L; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo, 90128 Palermo, Italy.
  • Di Leonardo A; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), University of Palermo, 90128 Palermo, Italy.
Int J Mol Sci ; 21(13)2020 Jul 06.
Article en En | MEDLINE | ID: mdl-32640650
Cystic fibrosis (CF) is caused by mutations in the gene encoding the transmembrane conductance regulator (CFTR) protein. Some CF patients are compound heterozygous or homozygous for nonsense mutations in the CFTR gene. This implies the presence in the transcript of premature termination codons (PTCs) responsible for a truncated CFTR protein and a more severe form of the disease. Aminoglycoside and PTC124 derivatives have been used for the read-through of PTCs to restore the full-length CFTR protein. However, in a precision medicine framework, the CRISPR/dCas13b-based molecular tool "REPAIRv2" (RNA Editing for Programmable A to I Replacement, version 2) could be a good alternative to restore the full-length CFTR protein. This RNA editing approach is based on the targeting of the deaminase domain of the hADAR2 enzyme fused to the dCas13b protein to a specific adenosine to be edited to inosine in the mutant mRNA. Targeting specificity is allowed by a guide RNA (gRNA) complementarily to the target region and recognized by the dCas13b protein. Here, we used the REPAIRv2 platform to edit the UGA PTC to UGG in different cell types, namely IB3-1 cells, HeLa, and FRT cells engineered to express H2BGFPopal and CFTRW1282X, respectively.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ARN Mensajero / Codón sin Sentido / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística / Sistemas CRISPR-Cas / Edición Génica / Mutación Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ARN Mensajero / Codón sin Sentido / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística / Sistemas CRISPR-Cas / Edición Génica / Mutación Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza