scholarly journals Effect of intron size on splicing efficiency in retroviral transcripts

1982 ◽  
Vol 10 (19) ◽  
pp. 6177-6190 ◽  
Author(s):  
Bryan R. Cullen ◽  
John J. Kopchick ◽  
Dennis W. Stacey
Genetics ◽  
2003 ◽  
Vol 165 (4) ◽  
pp. 1843-1851 ◽  
Author(s):  
John Parsch

AbstractIntron sizes show an asymmetrical distribution in a number of organisms, with a large number of “short” introns clustered around a minimal intron length and a much broader distribution of longer introns. In Drosophila melanogaster, the short intron class is centered around 61 bp. The narrow length distribution suggests that natural selection may play a role in maintaining intron size. A comparison of 15 orthologous introns among species of the D. melanogaster subgroup indicates that, in general, short introns are not under greater DNA sequence or length constraints than long introns. There is a bias toward deletions in all introns (deletion/insertion ratio is 1.66), and the vast majority of indels are of short length (<10 bp). Indels occurring on the internal branches of the phylogenetic tree are significantly longer than those occurring on the terminal branches. These results are consistent with a compensatory model of intron length evolution in which slightly deleterious short deletions are frequently fixed within species by genetic drift, and relatively rare larger insertions that restore intron length are fixed by positive selection. A comparison of paralogous introns shared among duplicated genes suggests that length constraints differ between introns within the same gene. The janusA, janusB, and ocnus genes share two short introns derived from a common ancestor. The first of these introns shows significantly fewer indels than the second intron, although the two introns show a comparable number of substitutions. This indicates that intron-specific selective constraints have been maintained following gene duplication, which preceded the divergence of the D. melanogaster species subgroup.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Verônica R. de Melo Costa ◽  
Julianus Pfeuffer ◽  
Annita Louloupi ◽  
Ulf A. V. Ørom ◽  
Rosario M. Piro

Abstract Background Introns are generally removed from primary transcripts to form mature RNA molecules in a post-transcriptional process called splicing. An efficient splicing of primary transcripts is an essential step in gene expression and its misregulation is related to numerous human diseases. Thus, to better understand the dynamics of this process and the perturbations that might be caused by aberrant transcript processing it is important to quantify splicing efficiency. Results Here, we introduce SPLICE-q, a fast and user-friendly Python tool for genome-wide SPLICing Efficiency quantification. It supports studies focusing on the implications of splicing efficiency in transcript processing dynamics. SPLICE-q uses aligned reads from strand-specific RNA-seq to quantify splicing efficiency for each intron individually and allows the user to select different levels of restrictiveness concerning the introns’ overlap with other genomic elements such as exons of other genes. We applied SPLICE-q to globally assess the dynamics of intron excision in yeast and human nascent RNA-seq. We also show its application using total RNA-seq from a patient-matched prostate cancer sample. Conclusions Our analyses illustrate that SPLICE-q is suitable to detect a progressive increase of splicing efficiency throughout a time course of nascent RNA-seq and it might be useful when it comes to understanding cancer progression beyond mere gene expression levels. SPLICE-q is available at: https://github.com/vrmelo/SPLICE-q


2004 ◽  
Vol 127A (3) ◽  
pp. 268-276 ◽  
Author(s):  
Jocelyne M. Lew ◽  
Yan Ling Fei ◽  
Kirk Aleck ◽  
Benjamin J. Blencowe ◽  
Rosanna Weksberg ◽  
...  

2013 ◽  
Vol 56 (10) ◽  
pp. 968-974 ◽  
Author(s):  
Wu JiaYan ◽  
Xiao JingFa ◽  
Wang LingPing ◽  
Zhong Jun ◽  
Yin HongYan ◽  
...  

2012 ◽  
Vol 8 ◽  
pp. EBO.S9758 ◽  
Author(s):  
Dapeng Wang ◽  
Yao Su ◽  
Xumin Wang ◽  
Hongxing Lei ◽  
Jun Yu

2016 ◽  
Vol 30 (17) ◽  
pp. 2005-2017 ◽  
Author(s):  
Ivana Gotic ◽  
Saeed Omidi ◽  
Fabienne Fleury-Olela ◽  
Nacho Molina ◽  
Felix Naef ◽  
...  

RNA ◽  
2021 ◽  
pp. rna.078329.120
Author(s):  
Valentin Jacquier ◽  
Manon Prevot ◽  
Thierry Gostan ◽  
Remy Bordonne ◽  
Sofia Benkhelifa-Ziyyat ◽  
...  

Spinal Muscular Atrophy (SMA) is a devastating neurodegenerative disease caused by reduced amounts of the ubiquitously expressed Survival of Motor Neuron (SMN) protein. In agreement with its crucial role in the biogenesis of spliceosomal snRNPs, SMN-deficiency is correlated to numerous splicing alterations in patient cells and various tissues of SMA mouse models. Among the snRNPs whose assembly is impacted by SMN-deficiency, those involved in the minor spliceosome are particularly affected. Importantly, splicing of several, but not all U12-dependent introns has been shown to be affected in different SMA models. Here, we have investigated the molecular determinants of this differential splicing in spinal cords from SMA mice. We show that the branchpoint sequence (BPS) is a key element controlling splicing efficiency of minor introns. Unexpectedly, splicing of several minor introns with suboptimal BPS is not affected in SMA mice. Using in vitro splicing experiments and oligonucleotides targeting minor or major snRNAs, we show for the first time that splicing of these introns involves both the minor and major machineries. Our results strongly suggest that splicing of a subset of minor introns is not affected in SMA mice because components of the major spliceosome compensate for the loss of minor splicing activity.


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