Brain-related genes are specifically enriched with long phase 1 introns.

Autor: Baulin EF; Institute of Mathematical Problems of Biology RAS-the Branch of Keldysh Institute of Applied Mathematics of Russian Academy of Sciences, Pushchino, Moscow Region, Russia.; Phystech School of Applied Mathematics and Informatics, Moscow Institute of Physics and Technology (National Research University), Dolgoprudny, Moscow Region, Russia., Kulakovskiy IV; Institute of Mathematical Problems of Biology RAS-the Branch of Keldysh Institute of Applied Mathematics of Russian Academy of Sciences, Pushchino, Moscow Region, Russia.; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia., Roytberg MA; Institute of Mathematical Problems of Biology RAS-the Branch of Keldysh Institute of Applied Mathematics of Russian Academy of Sciences, Pushchino, Moscow Region, Russia.; Phystech School of Applied Mathematics and Informatics, Moscow Institute of Physics and Technology (National Research University), Dolgoprudny, Moscow Region, Russia., Astakhova TV; Institute of Mathematical Problems of Biology RAS-the Branch of Keldysh Institute of Applied Mathematics of Russian Academy of Sciences, Pushchino, Moscow Region, Russia.
Jazyk: angličtina
Zdroj: PloS one [PLoS One] 2020 May 29; Vol. 15 (5), pp. e0233978. Date of Electronic Publication: 2020 May 29 (Print Publication: 2020).
DOI: 10.1371/journal.pone.0233978
Abstrakt: Intronic gene regions are mostly considered in the scope of gene expression regulation, such as alternative splicing. However, relations between basic statistical properties of introns are much rarely studied in detail, despite vast available data. Particularly, little is known regarding the relationship between the intron length and the intron phase. Intron phase distribution is significantly different at different intron length thresholds. In this study, we performed GO enrichment analysis of gene sets with a particular intron phase at varying intron length thresholds using a list of 13823 orthologous human-mouse gene pairs. We found a specific group of 153 genes with phase 1 introns longer than 50 kilobases that were specifically expressed in brain, functionally related to synaptic signaling, and strongly associated with schizophrenia and other mental disorders. We propose that the prevalence of long phase 1 introns arises from the presence of the signal peptide sequence and is connected with 1-1 exon shuffling.
Competing Interests: The authors have declared that no competing interests exist.
Databáze: MEDLINE
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