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10.1371/journal.pone.0184009 http://scihub22266oqcxt.onion/10.1371/journal.pone.0184009 C5581164!5581164 !28863137     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28863137 &cmd=llinks): Failed to open stream: HTTP request failed! 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Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA |pdf=|usr=}}{{28863137 }} gab.com Text Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA JO: PLoS One http://www.kidney.de/pget.php?&tw=1&pmid=28863137 #FOAvip Cystic Fibrosis is an autosomal recessive disorder caused by mutations in the CFTR gene. CRISPR mediated, template-dependent homology-directed gene editing has been used to correct the most common mutation, c.1521_1523delCTT / p.Phe508del (F508del) which affects ~70% of individuals, but the efficiency was relatively low. Here, we describe a high efficiency strategy for editing of three different rare CFTR mutations which together account for about 3% of individuals with Cystic Fibrosis. The mutations cause aberrant splicing of CFTR mRNA due to the creation of cryptic splice signals that result in the formation of pseudoexons containing premature stop codons c.1679+1634A>G (1811+1.6kbA>G) and c.3718-2477C>T (3849+10kbC>T), or an out-of-frame 5' extension to an existing exon c.3140-26A>G (3272-26A>G). We designed pairs of Cas9 guide RNAs to create targeted double-stranded breaks in CFTR either side of each mutation which resulted in high efficiency excision of the target genomic regions via non-homologous end-joining repair. When evaluated in a mini-gene splicing assay, we showed that targeted excision restored normal splicing for all three mutations. This approach could be used to correct aberrant splicing signals or remove disruptive transcription regulatory motifs caused by deep-intronic mutations in a range of other genetic disorders. Twit Text FOAVip Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA ????PLoS One http://www.kidney.de/pget.php?&tw=1&pmid=28863137 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28863137 #FOAvip English Wikipedia <ref>{{Cite pmid|28863137 }}</ref> Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA #MMPMID28863137 Sanz DJ ; Hollywood JA ; Scallan MF ; Harrison PT PLoS One 2017[]; 12 (9 ): e0184009 PMID28863137 show ga Cystic Fibrosis is an autosomal recessive disorder caused by mutations in the CFTR gene. CRISPR mediated, template-dependent homology-directed gene editing has been used to correct the most common mutation, c.1521_1523delCTT / p.Phe508del (F508del) which affects ~70% of individuals, but the efficiency was relatively low. Here, we describe a high efficiency strategy for editing of three different rare CFTR mutations which together account for about 3% of individuals with Cystic Fibrosis. The mutations cause aberrant splicing of CFTR mRNA due to the creation of cryptic splice signals that result in the formation of pseudoexons containing premature stop codons c.1679+1634A>G (1811+1.6kbA>G) and c.3718-2477C>T (3849+10kbC>T), or an out-of-frame 5' extension to an existing exon c.3140-26A>G (3272-26A>G). We designed pairs of Cas9 guide RNAs to create targeted double-stranded breaks in CFTR either side of each mutation which resulted in high efficiency excision of the target genomic regions via non-homologous end-joining repair. When evaluated in a mini-gene splicing assay, we showed that targeted excision restored normal splicing for all three mutations. This approach could be used to correct aberrant splicing signals or remove disruptive transcription regulatory motifs caused by deep-intronic mutations in a range of other genetic disorders. |*CRISPR-Cas Systems [MESH] |*Codon [MESH] |Alternative Splicing [MESH] |Amino Acid Motifs [MESH] |Cell Separation [MESH] |Cystic Fibrosis Transmembrane Conductance Regulator/*genetics/metabolism [MESH] |Cystic Fibrosis/*genetics/metabolism [MESH] |Exons [MESH] |Flow Cytometry [MESH] |Gene Deletion [MESH] |Humans [MESH] |Introns [MESH] |Mutation [MESH] |Oligonucleotides/genetics [MESH] |RNA, Guide, CRISPR-Cas Systems/*genetics [MESH]Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic s(epmc).pdf DeepDyve Pubget Overpricing