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• W3193984652 endingPage "9685" @default.
• W3193984652 startingPage "9665" @default.
• W3193984652 abstract "Abstract Transcripts containing premature termination codons (PTCs) can be subject to nonsense-associated alternative splicing (NAS). Two models have been evoked to explain this, scanning and splice motif disruption. The latter postulates that exonic cis motifs, such as exonic splice enhancers (ESEs), are disrupted by nonsense mutations. We employ genome-wide transcriptomic and k-mer enrichment methods to scrutinize this model. First, we show that ESEs are prone to disruptive nonsense mutations owing to their purine richness and paucity of TGA, TAA and TAG. The motif model correctly predicts that NAS rates should be low (we estimate 5–30%) and approximately in line with estimates for the rate at which random point mutations disrupt splicing (8–20%). Further, we find that, as expected, NAS-associated PTCs are predictable from nucleotide-based machine learning approaches to predict splice disruption and, at least for pathogenic variants, are enriched in ESEs. Finally, we find that both in and out of frame mutations to TAA, TGA or TAG are associated with exon skipping. While a higher relative frequency of such skip-inducing mutations in-frame than out of frame lends some credence to the scanning model, these results reinforce the importance of considering splice motif modulation to understand the etiology of PTC-associated disease." @default.
• W3193984652 created "2021-08-30" @default.
• W3193984652 creator A5027887140 @default.
• W3193984652 creator A5029145656 @default.
• W3193984652 creator A5031902962 @default.
• W3193984652 creator A5052138156 @default.
• W3193984652 creator A5071113889 @default.
• W3193984652 creator A5080432908 @default.
• W3193984652 date "2021-09-01" @default.
• W3193984652 modified "2023-09-24" @default.
• W3193984652 title "Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption" @default.
• W3193984652 cites W1268830682 @default.
• W3193984652 cites W1500827124 @default.
• W3193984652 cites W1501820843 @default.
• W3193984652 cites W1839131225 @default.
• W3193984652 cites W1964145189 @default.
• W3193984652 cites W1965748552 @default.
• W3193984652 cites W1967757221 @default.
• W3193984652 cites W1971292110 @default.
• W3193984652 cites W1972760080 @default.
• W3193984652 cites W1972953584 @default.
• W3193984652 cites W1974176052 @default.
• W3193984652 cites W1983954245 @default.
• W3193984652 cites W1985886710 @default.
• W3193984652 cites W1986223165 @default.
• W3193984652 cites W1988750240 @default.
• W3193984652 cites W1992127683 @default.
• W3193984652 cites W1995523951 @default.
• W3193984652 cites W1996279504 @default.
• W3193984652 cites W1996302084 @default.
• W3193984652 cites W2001921163 @default.
• W3193984652 cites W2002111438 @default.
• W3193984652 cites W2007615385 @default.
• W3193984652 cites W2009757848 @default.
• W3193984652 cites W2010475189 @default.
• W3193984652 cites W2011807848 @default.
• W3193984652 cites W2014027189 @default.
• W3193984652 cites W2015087800 @default.
• W3193984652 cites W2015249201 @default.
• W3193984652 cites W2016718617 @default.
• W3193984652 cites W2019810012 @default.
• W3193984652 cites W2020200036 @default.
• W3193984652 cites W2023648355 @default.
• W3193984652 cites W2025943989 @default.
• W3193984652 cites W2026462693 @default.
• W3193984652 cites W2028597809 @default.
• W3193984652 cites W2029760674 @default.
• W3193984652 cites W2030335925 @default.
• W3193984652 cites W2033144162 @default.
• W3193984652 cites W2034546315 @default.
• W3193984652 cites W2034691490 @default.
• W3193984652 cites W2034972401 @default.
• W3193984652 cites W2035041709 @default.
• W3193984652 cites W2038921819 @default.
• W3193984652 cites W2042396822 @default.
• W3193984652 cites W2054380003 @default.
• W3193984652 cites W2056571800 @default.
• W3193984652 cites W2063318299 @default.
• W3193984652 cites W2066231767 @default.
• W3193984652 cites W2066841033 @default.
• W3193984652 cites W2070766958 @default.
• W3193984652 cites W2071271399 @default.
• W3193984652 cites W2075661710 @default.
• W3193984652 cites W2081646062 @default.
• W3193984652 cites W2082773579 @default.
• W3193984652 cites W2085811948 @default.
• W3193984652 cites W2088338354 @default.
• W3193984652 cites W2097117811 @default.
• W3193984652 cites W2099028592 @default.
• W3193984652 cites W2099927467 @default.
• W3193984652 cites W2100008304 @default.
• W3193984652 cites W2101990520 @default.
• W3193984652 cites W2102046311 @default.
• W3193984652 cites W2102619694 @default.
• W3193984652 cites W2103534177 @default.
• W3193984652 cites W2103767482 @default.
• W3193984652 cites W2104281302 @default.
• W3193984652 cites W2104549677 @default.
• W3193984652 cites W2105840727 @default.
• W3193984652 cites W2106334539 @default.
• W3193984652 cites W2106685977 @default.
• W3193984652 cites W2107277218 @default.
• W3193984652 cites W2107612435 @default.
• W3193984652 cites W2108234281 @default.
• W3193984652 cites W2111815225 @default.
• W3193984652 cites W2112001822 @default.
• W3193984652 cites W2114791882 @default.
• W3193984652 cites W2118551099 @default.
• W3193984652 cites W2120943069 @default.
• W3193984652 cites W2126148683 @default.
• W3193984652 cites W2126330038 @default.
• W3193984652 cites W2127708937 @default.
• W3193984652 cites W2131094158 @default.
• W3193984652 cites W2135653026 @default.
• W3193984652 cites W2137898238 @default.
• W3193984652 cites W2142386149 @default.
• W3193984652 cites W2146292423 @default.
• W3193984652 cites W2146577466 @default.

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