Introns are non-coding intervals that interrupt the coding
sequences of eukaryotic genes. Intron removal is performed
by a complicated molecular machinery, called the
spliceosome, concomitantly with gene transcription. Introns
and the splicing machinery (or at least their traces) are
found in every sequenced eukaryotic genome. Moreover, many
introns are found at homologous positions across different
kingdoms, suggesting that some originate in the earliest
Introns are largely devoid of function, yet in humans (and
mammals in general), they make up more than~40% of the
genome. The most obvious evolutionary advantage of the
interrupted coding sequences is that they increase
functional complexity by enabling alternate assemblies.
Introns provide a powerful source of variations for natural
selection in many other ways, since splicing is tightly
coupled with transcription and export from the nucleus, and
intronic sequences frequently harbor regulatory elements.
The proposed project aims at developing bioinformatics tools
and mathematical models that help understanding randomness
and natural selection that shape exon-intron architecture in
different eukaryotic lineages. In particular, we will
investigate intron turnover in fast-evolving genes,
selective constraints on intron length and mechanisms of
intron gain on a large scale, using annotated whole genomes.
In addition to providing new insights into the ways
evolution affects gene structure, the developed
methods will be useful to produce better annotations of
coding regions and functional intronic elements.
Fields of science
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