Abstract
Genes with short 5'UTR introns have higher expression than genes with no or long 5'UTR introns. Complex evolutionary forces act on these introns.
Highlights
35% of human genes contain introns within the 5’ untranslated region (UTR)
Previous estimates of the percentage of genes with 5’UTR intron (5UI) ranged between 22% and 26% [18] and 38% [19] in humans, suggesting that the Reference Sequence (RefSeq) collection had no major bias in terms of presence or absence of 5UIs compared to other previously used datasets
Even though there was a correlation between the lengths of 5UIs and 5’UTR exons overall, this correlation was slight and was driven by the genes with the longest 5UIs (Figure 1c; Pearson correlation coefficient or Pearson correlation coefficient (PCC) = 0.21, P < 2.2e-16)
Summary
35% of human genes contain introns within the 5’ untranslated region (UTR). Introns in 5’UTRs differ from those in coding regions and 3’UTRs with respect to nucleotide composition, length distribution and density. Despite their presumed impact on gene regulation, the evolution and possible functions of 5’UTR introns remain largely unexplored. Neutral or nearly neutral population genetic processes under general, non-adaptive conditions have been suggested to result in dynamic gains and losses of introns. Such neutral processes could account for some of the observed patterns of intron presence [5], but do not rule out the possibility that adaptive processes are simultaneously contributing to the maintenance of some introns.
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