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Updated: Jun 29, 2026
13:10
Use of Alu Element Containing Minigenes to Analyze Circular RNAs
Published on: March 10, 2020
Diverse splicing patterns of exonized Alu elements in human tissues
Lan Lin1, Shihao Shen, Anne Tye
1Department of Internal Medicine, University of Iowa, Iowa City, Iowa, USA.
Plos Genetics
|October 9, 2008
Summary
New exons in primates often arise from Alu elements. This study reveals diverse splicing patterns, including tissue-specific regulation, suggesting adaptive benefits during human evolution.
Area of Science:
- Genomics
- Evolutionary Biology
- Molecular Biology
Background:
- Exonization of Alu elements is a key driver of new exon formation in primate genomes.
- Previous studies indicated most Alu-derived exons are alternatively spliced with low transcript inclusion.
Purpose of the Study:
- To investigate diverse splicing patterns of exonized Alu elements in human tissues.
- To explore the functional and evolutionary implications of Alu exonization.
Main Methods:
- Analysis of Exon array data from 330 Alu-derived exons across 11 human tissues.
- Experimental validation using detailed RT-PCR and real-time qPCR analyses.
Main Results:
- Demonstrated constitutive and tissue-specific splicing patterns for Alu-derived exons.
- Identified ancient Alu elements as common sources for these exons.
- Found muscle-specific Alu exon inclusion in SEPN1 may regulate its function.
- Observed a human-specific increase in transcript inclusion and muscle specificity for the SEPN1 Alu exon.
Conclusions:
- Alu exonization contributes to transcriptome diversity with varied splicing regulation.
- Some Alu exonization events may confer adaptive advantages in primate evolution.
- Tissue-specific regulation of Alu-derived exons, like in SEPN1, can impact gene function and potentially human health.
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