Results 31 to 40 of about 12,984 (193)
The Exon Junction Complex and intron removal prevent re-splicing of mRNA.
PLoS Genetics, 2021 Accurate splice site selection is critical for fruitful gene expression. Recently, the mammalian EJC was shown to repress competing, cryptic, splice sites (SS). However, the evolutionary generality of this remains unclear.
Brian Joseph, Eric C Lai
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Molecular Therapy: Nucleic Acids, 2016 While 9% of human pathogenic variants have an established effect on pre-mRNA splicing, it is suspected that an additional 20% of otherwise classified variants also affect splicing.
Atze J Bergsma +4 more
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Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro [PDF]
Royal Society Open Science, 2019 The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product.
Jonathan Cook +2 more
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Activation of cryptic splice sites in murine sarcoma virus-124 mutants [PDF]
Journal of Virology, 1990 We have examined splice site activation in relation to intron structure in murine sarcoma virus (MuSV)-124 RNA. MuSV-124 contains inactive murine leukemia virus env gene splice sites (termed 5' env and 3' env) as well as cryptic sites in the gag and v-mos genes (termed 5' gag and 3' mos) which are activated for thermosensitive splicing by a 1,487-base ...
M, de Mars, P E, Cizdziel, E C, Murphy
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Computational analysis of splicing errors and mutations in human transcripts
BMC Genomics, 2008 Background Most retained introns found in human cDNAs generated by high-throughput sequencing projects seem to result from underspliced transcripts, and thus they capture intermediate steps of pre-mRNA splicing.
Gelfand Mikhail S +1 more
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Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals. [PDF]
PLoS Genetics, 2006 Splice site selection is a key element of pre-mRNA splicing. Although it is known to involve specific recognition of short consensus sequences by the splicing machinery, the mechanisms by which 5' splice sites are accurately identified remain ...
Keren Borensztajn +5 more
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Activation of a cryptic 5′ splice site by U1 snRNA
RNA, 2001 In the course of analyzing 5' splice site mutations in the second intron of Schizosaccharomyces pombe cdc2, we identified a cryptic 5' junction containing a nonconsensus nucleotide at position +2. An even more unusual feature of this cryptic 5' junction was its pattern of activation. By analyzing the profile of splicing products for an extensive series
C J, Alvarez, J A, Wise
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An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome. [PDF]
Sci Rep, 2018 AbstractAlternate splicing is a critical regulator of gene expression in eukaryotes, however genetic mutations can cause erroneous splicing and disease. Most recorded splicing disorders are caused by mutations of splice donor/acceptor sites, however intronic mutations can affect splicing.
Ogier JM +5 more
europepmc +6 more sources
Frontiers in Genetics, 2020 Splice isoform structure and abundance can be affected by either noncoding or masquerading coding variants that alter the structure or abundance of transcripts.
Eliseos J. Mucaki +5 more
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HGG Advances, 2022 Summary: Predicting the pathogenicity of acceptor splice-site variants outside the essential AG is challenging, due to high sequence diversity of the extended splice-site region. Critical analysis of 24,445 intronic extended acceptor splice-site variants
Samantha J. Bryen +12 more
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