We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Noisy splicing drives mRNA isoform diversity in human cells.
- Authors
Pickrell, Joseph K; Pai, Athma A; Gilad, Yoav; Pritchard, Jonathan K
- Abstract
While the majority of multiexonic human genes show some evidence of alternative splicing, it is unclear what fraction of observed splice forms is functionally relevant. In this study, we examine the extent of alternative splicing in human cells using deep RNA sequencing and de novo identification of splice junctions. We demonstrate the existence of a large class of low abundance isoforms, encompassing approximately 150,000 previously unannotated splice junctions in our data. Newly-identified splice sites show little evidence of evolutionary conservation, suggesting that the majority are due to erroneous splice site choice. We show that sequence motifs involved in the recognition of exons are enriched in the vicinity of unconserved splice sites. We estimate that the average intron has a splicing error rate of approximately 0.7% and show that introns in highly expressed genes are spliced more accurately, likely due to their shorter length. These results implicate noisy splicing as an important property of genome evolution.
- Publication
PLoS genetics, 2010, Vol 6, Issue 12, pe1001236
- ISSN
1553-7404
- Publication type
Journal Article
- DOI
10.1371/journal.pgen.1001236