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Updated: Jul 16, 2026
08:35
Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
SOD2 polymorphisms: unmasking the effect of polymorphism on splicing
Jing Shao1, Lishan Chen, Brian Marrs
1Department of Pathology, University of Washington, Seattle, Washington, USA. jshao@u.washington.edu
BMC Medical Genetics
|March 3, 2007
Summary
Researchers discovered a new SOD2 splice variant and found that an intron 3 polymorphism influences its expression. This SOD2 polymorphism shows distinct frequencies in older African-Americans and non-African-Americans, suggesting potential links to aging and cardiovascular health.
Area of Science:
- Genetics
- Molecular Biology
- Aging Research
Background:
- The SOD2 gene encodes mitochondrial superoxide dismutase, an antioxidant enzyme.
- SOD2 polymorphisms are studied for their role in age-related free radical damage.
Purpose of the Study:
- To identify novel SOD2 splice variants.
- To investigate the impact of an intronic polymorphism on SOD2 splicing and its frequency in aging populations.
Main Methods:
- Exon trapping of a minigene to study splicing.
- Analysis of endogenous SOD2 transcripts in lymphoblastoid cell lines (LCLs).
- Genotyping of SOD2 polymorphisms in elderly participants of the National Long Term Care Survey (NLTCS).
Main Results:
- A novel SOD2 splice variant with an in-frame deletion of exon 4 was identified.
- Exon trapping unmasked the effect of a 10T/9T intron 3 polymorphism on splicing.
- Significant differences in the 10T/9T intron 3 polymorphism genotype frequencies were observed between African-American and non-African-American elderly individuals.
Conclusions:
- The 10T/9T intron 3 polymorphism affects SOD2 splicing in vitro.
- Investigating the association of this SOD2 polymorphism with cardiovascular disorders is warranted, given its location on chromosome 6 and linkage to hypertension susceptibility.
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