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Frequent alternative splicing of human genes
A A Mironov1, J W Fickett, M S Gelfand
1State Center of Biotechnology NIIGenetika, Moscow, 113545, Russia.
Genome Research
|December 30, 1999
Summary
Alternative splicing, a process creating varied proteins, is prevalent in 35% of human genes. Most events occur in 5' untranslated regions, indicating broad regulatory roles in gene expression.
Area of Science:
- Genetics
- Molecular Biology
- Bioinformatics
Background:
- Alternative splicing generates diverse proteins and expression patterns, similar to distinct genes.
- The prevalence of alternative splicing across the human genome remains unquantified.
Purpose of the Study:
- To quantify the prevalence of alternative splicing in human genes.
- To inventory exon-intron structures and identify alternative splicing events.
Main Methods:
- Utilized a spliced alignment algorithm to analyze exon-intron structures.
- Employed EST contigs from the TIGR Human Gene Index for human gene analysis.
Main Results:
- Alternative splicing was detected in 35% of the analyzed human genes.
- The majority of alternative splicing events were identified in 5' untranslated regions.
- Alternative splices in coding regions often generated additional protein domains.
Conclusions:
- Alternative splicing is a widespread phenomenon in the human genome.
- Alternative splicing in 5' untranslated regions suggests significant roles in gene regulation.
- The study provides a foundational inventory of alternative splicing events, requiring further verification.