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Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
Published on: August 26, 2018
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Brain-related genes are specifically enriched with long phase 1 introns
Eugene F Baulin1,2, Ivan V Kulakovskiy1,3, Mikhail A Roytberg1,2
1Institute of Mathematical Problems of Biology RAS-the Branch of Keldysh Institute of Applied Mathematics of Russian Academy of Sciences, Pushchino, Moscow Region, Russia.
Plos One
|May 30, 2020
Summary
Long phase 1 introns, over 50 kilobases, are linked to brain-specific genes involved in synaptic signaling and mental disorders like schizophrenia. This suggests a connection to signal peptide sequences and exon shuffling.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- Introns are non-coding DNA sequences within genes.
- Intron length and phase are basic statistical properties.
- The relationship between intron length and phase is underexplored.
Purpose of the Study:
- Investigate the relationship between intron length and intron phase.
- Identify genes with specific intron characteristics.
- Explore functional and disease associations of these genes.
Main Methods:
- Utilized Gene Ontology (GO) enrichment analysis.
- Analyzed 13823 orthologous human-mouse gene pairs.
- Examined intron phase distribution across varying intron length thresholds.
Main Results:
- Discovered 153 genes with phase 1 introns > 50 kilobases.
- These genes are brain-specific and involved in synaptic signaling.
- Found strong associations with schizophrenia and mental disorders.
Conclusions:
- Long phase 1 introns may arise from signal peptide sequences.
- This phenomenon is potentially linked to 1-1 exon shuffling.
- Highlights a novel genetic link between intron structure and neurological disorders.
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