We are analyzing https://link.springer.com/article/10.1007/s004390100598.

Title:
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? | Human Genetics
Description:
More than 98% of Duchenne muscular dystrophy (DMD) mutations result in the premature termination of the dystrophin open reading frame at various points over its 11-kb length. Despite this wide variation in coding potential (0%–98.6% of the full-length protein), the truncating mutations are associated with a surprisingly uniform severity of phenotype. This uniformity is probably attributable to ablation of the message by nonsense-mediated decay (NMD). The rare truncating mutations that occur near the 3
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article, privacy, cookies, content, muscular, dystrophin, access, information, publish, search, dystrophy, mutations, variation, gene, guys, london, data, log, journal, research, genetics, mutant, variable, phenotypes, nonsensemediated, decay, kerr, sewry, robb, duchenne, open, phenotype, nmd, discover, hospital, medicine, springer, optional, personal, parties, policy, find, track, human, long, dystrophins, evasion, published, september, cite,

Topics {✒️}

month download article/chapter duchenne muscular dystrophy long mutant dystrophins rare truncating mutations therapeutic gene editing dystrophin gene mutations privacy choices/manage cookies 1007/s004390100598 access full article pdf wide variation underlying variation frameshift mutation disease progression related subjects dystrophin gene truncated dystrophin rescues european economic area nonsense-mediated decay original investigation published surprisingly uniform severity st thomas' school conditions privacy policy full-length protein imperial college school accepting optional cookies extremely variable phenotypes main content log journal finder publish molecular genetics mutant genes article log article kerr check access instant access article cite information privacy policy personal data books a muscular optional cookies manage preferences truncating mutations variable phenotypes data protection essential cookies cookies skip subscription content similar content 11-kb length

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Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

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         headline:Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
         description: More than 98% of Duchenne muscular dystrophy (DMD) mutations result in the premature termination of the dystrophin open reading frame at various points over its 11-kb length. Despite this wide variation in coding potential (0%–98.6% of the full-length protein), the truncating mutations are associated with a surprisingly uniform severity of phenotype. This uniformity is probably attributable to ablation of the message by nonsense-mediated decay (NMD). The rare truncating mutations that occur near the 3' end of the dystrophin gene (beyond exon 70) can however result in extremely variable phenotypes (both intra- and inter-familially). We suggest that all proteins encoded by such mutant genes are capable in principle of rescuing the DMD phenotype but that NMD abrogates the opportunity to effect this rescue. The observed variability may therefore reflect an underlying variation in the efficiency of NMD between individuals. We discuss this hypothesis with particular reference to a well-characterised Becker muscular dystrophy patient with a frameshift mutation, where expression of a truncated dystrophin rescues the muscular but not mental phenotype.
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      headline:Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
      description: More than 98% of Duchenne muscular dystrophy (DMD) mutations result in the premature termination of the dystrophin open reading frame at various points over its 11-kb length. Despite this wide variation in coding potential (0%–98.6% of the full-length protein), the truncating mutations are associated with a surprisingly uniform severity of phenotype. This uniformity is probably attributable to ablation of the message by nonsense-mediated decay (NMD). The rare truncating mutations that occur near the 3' end of the dystrophin gene (beyond exon 70) can however result in extremely variable phenotypes (both intra- and inter-familially). We suggest that all proteins encoded by such mutant genes are capable in principle of rescuing the DMD phenotype but that NMD abrogates the opportunity to effect this rescue. The observed variability may therefore reflect an underlying variation in the efficiency of NMD between individuals. We discuss this hypothesis with particular reference to a well-characterised Becker muscular dystrophy patient with a frameshift mutation, where expression of a truncated dystrophin rescues the muscular but not mental phenotype.
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