Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9909018 | Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis | 2005 | 6 Pages |
Abstract
The main role of superoxide dismutases (SODs) is to eliminate reactive oxygen species in cells and tissues. Extracellular SOD (EC-SOD/SOD3) is a major superoxide scavenger and it is located on cell surfaces and primarily in extracellular matrix, and binds heparan sulfates by its carboxyterminal portion. Human EC-SOD gene is located on chromosome 4 and comprises three exons and two introns. The SOD3 coding sequence is entirely located within exon 3 and has missense polymorphisms. The Arg213Gly mutation affects the function of the carboxyterminus and correlates with several diseases. In this work, we explored genetic variants within EC-SOD gene of subjects living in southern Italy. Four new variations were detected: one was silent mutation, while three were missense variations that give rise to amino acid substitutions at position 131 (FÂ >Â C), 160 (VÂ >Â L) and 202 (RÂ >Â L) in the mature product. The Arg213Gly variant was not found. The missense mutations in the DNA of assayed 2400 chromosomes had frequencies of 5.34% for the F131C variation, 0.25% for the V160L variation and 0.84% for the R202L variation. The effect of these alterations on the metabolic activity and diseases remains to be further explained.
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Authors
Salvatore Campo, Adriana M. Sardo, Giuseppe M. Campo, Angela D'Ascola, Angela Avenoso, Maria Castaldo, Carlo Saitta, Amalia Lania, Antonino Saitta, Alberto Calatroni,