Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
نویسندگان
چکیده
منابع مشابه
Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2
Spinal Muscular Atrophy is caused by homozygous loss of SMN1. All patients retain at least one copy of SMN2 which produces an identical protein but at lower levels due to a silent mutation in exon 7 which results in predominant exclusion of the exon. Therapies targeting the splicing of SMN2 exon 7 have been in development for several years, and their efficacy has been measured using either in v...
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Comparative analysis of alternative splicing of orthologous genes from fruit flies (Drosophila melanogaster and Drosophila pseudoobscura) and mosquito (Anopheles gambiae) demonstrated that both in the fruit fly genes and in fruit fly-mosquito comparisons, constitutive exons and splicing sites are more conserved than alternative ones. While >97% of constitutive D. melanogaster exons are conserve...
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Alternative splicing can alter genome sequence and as a consequence, many genes change to oncogenes. This event can also affect protein function and diversity. The growing number of study elucidate the pathological influence of impaired alternative splicing events on numerous disease including cancer. Here, we would like to highlight the significant role of alternative splicing in cancer biolog...
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assessment of deep word knowledge in elementary and advanced iranian efl learners: a comparison of selective and productive wat tasks
testing plays a vital role in any language teaching program. it allows teachers and stakeholders, including program administrators, parents, admissions officers and prospective employers to be assured that the learners are progressing according to an accepted standard (douglas, 2010). the problems currently facing language testers have both practical and theoretical implications but the first i...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2016
ISSN: 2054-345X
DOI: 10.1038/hgv.2016.40