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REVIEW: Spliceosomal Introns: Features, Functions, and Evolution


I. V. Poverennaya1,2,a* and M. A. Roytberg2,3,4#

1Vavilov Institute of General Genetics, Russian Academy of Sciences, 119991, Moscow, Russia

2Institute of Mathematical Problems in Biology, Keldysh Branch of Institute of Applied Mathematics, Russian Academy of Sciences, 142290 Pushchino, Moscow Region, Russia

3Moscow Institute of Physics and Technology, 141701 Dolgoprudny, Moscow Region, Russia

4Higher School of Economics, 101000 Moscow, Russia

* To whom correspondence should be addressed.

# Deceased.

Received March 26, 2020; Revised May 25, 2020; Accepted May 25, 2020
Spliceosomal introns, which have been found in most eukaryotic genes, are non-coding sequences excised from pre-mRNAs by a special complex called spliceosome during mRNA splicing. Introns occur in both protein- and RNA-coding genes and can be found in coding and untranslated gene regions. Because intron sequences vary greatly due to a high rate of polymorphism, the functions of intron had been for a long time associated only with alternative splicing, while intron evolution had been viewed not as an evolution of an individual genomic element, but rather considered within a framework of the evolution of the gene intron-exon structure. Here, we review the theories of intron origin, evolutionary events in the exon-intron structure, such as intron gain, loss, and sliding, intron functions known to date, and mechanisms by which changes in the intron features (length and phase) can affect the regulation of gene-mediated processes.
KEY WORDS: spliceosomal introns, intron phase, intron length, evolution, sliding, exon-intron structure

DOI: 10.1134/S0006297920070019