AI Article Synopsis

  • The SOD2 gene is important for producing an antioxidant enzyme that may affect aging by reducing damage from free radicals.
  • Researchers discovered a new splice variant of SOD2 in human lymphoblastoid cell lines, linked to an intronic polymorphism that influences splicing.
  • There were notable differences in the frequencies of the 10T/9T intron 3 polymorphism between African-American and non-African-American elderly populations, suggesting potential implications for cardiovascular health.

Article Abstract

Background: The SOD2 gene encodes an antioxidant enzyme, mitochondrial superoxide dismutase. SOD2 polymorphisms are of interest because of their potential roles in the modulation of free radical-mediated macromolecular damage during aging.

Results: We identified a new splice variant of SOD2 in human lymphoblastoid cell lines (LCLs). The alternatively spliced product was originally detected by exon trapping of a minigene in order to examine the consequences of an intronic polymorphism found upstream of exon 4 (nucleotide 8136, 10T vs 9T). Examination of the transcripts derived from the endogenous loci in five LCLs with or without the intron 3 polymorphism revealed low levels of an in-frame deletion of exon 4 that were different from those detected by the exon trap assay. This suggested that exon trapping of the minigene unmasked the effect of the 10T vs 9T polymorphism on the splicing of the adjacent exon. We also determined the frequencies of single nucleotide polymorphisms in a sample of US African-Americans and non-African-Americans ages 65 years and older who participated in the 1999 wave of the National Long Term Care Survey (NLTCS). Particularly striking differences between African-Americans and non-African-Americans were found for the frequencies of genotypes at the 10T/9T intron 3 polymorphism.

Conclusion: Exon trapping can unmask in vitro splicing differences caused by a 10T/9T intron 3 polymorphism. Given the recent evidence that SOD2 is in a region on chromosome 6 linked to susceptibility to hypertension, it will be of interest to investigate possible associations of this polymorphism with cardiovascular disorders.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1819367PMC
http://dx.doi.org/10.1186/1471-2350-8-7DOI Listing

Publication Analysis

Top Keywords

exon trapping
12
sod2 polymorphisms
8
polymorphism splicing
8
detected exon
8
trapping minigene
8
intron polymorphism
8
african-americans non-african-americans
8
10t/9t intron
8
exon
7
polymorphism
6

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!