منابع مشابه
Splicing fidelity, enhancers, and disease.
Eukaryotic pre-mRNA splicing allows for a large, diverse proteome to be coded by a relatively small genome. Alternative splicing events are well regulated, but when mutations disrupt the splice sites or regulatory elements, disease can occur. Similarly, mutations can cause disease through aberrant transcript production. Enhancers, one of the splicing regulatory elements, are frequent targets of...
متن کاملMechanisms of fidelity in pre-mRNA splicing.
The pre-mRNA splicing machinery consists of five small nuclear RNAs (U1, U2, U4, U5 and U6) and more than fifty proteins. Over the past year, important advances have been made in understanding how these factors function to achieve fidelity in splicing. Of particular note were the discoveries that the splicing factor U2AF(35) recognizes the AG dinucleotide at the 3' splice site early in spliceos...
متن کاملTranscriptional mutagenesis reduces splicing fidelity in mammalian cells
Splicing fidelity is essential to the maintenance of cellular functions and viability, and mutations or natural variations in pre-mRNA sequences and consequent alteration of splicing have been implicated in the etiology and progression of numerous diseases. The extent to which transcriptional errors or lesion-induced transcriptional mutagenesis (TM) influences splicing fidelity is not currently...
متن کاملEvolutionary impact of limited splicing fidelity in mammalian genes.
The functional significance of most alternative splicing (AS) events, especially frame-shifting ones, has been controversial. Using human-mouse comparison, we demonstrate that frame-preserving AS events adapt and get fixed more rapidly than frame-shifting AS events; selection for smaller exon size is stronger in frame-preserving exons than in frame-shifting ones. These results suggest AS events...
متن کاملExon sequences at the splice junctions affect splicing fidelity and alternative splicing.
Identification of splice sites is essential for the expression of most eukaryotic genes, allowing accurate splicing of pre-mRNAs. The splice sites are recognized by the splicing machinery based on sequences within the pre-mRNA. Here, we show that the exon sequences at the splice junctions play a significant, previously unrecognized role in the selection of 3' splice sites during the second step...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: RNA Biology
سال: 2013
ISSN: 1547-6286,1555-8584
DOI: 10.4161/rna.25245