Published online 12 August 2005
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Identification of RNA editing sites in the SNP database
1School of Physics and Astronomy, Raymond and Beverly Sackler Faculty of Exact Sciences, TAU Tel Aviv 69978, Israel 2Department of Pediatric Hemato-Oncology, Safra Children's Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University Tel Aviv 69978, Israel 3Department of Oral Pathology, School of Dental Medicine, Tel Aviv University Tel Aviv 69978, Israel 4Compugen Ltd 72 Pinchas Rosen Street, Tel Aviv 69512, Israel
*To whom correspondence should be addressed. Tel: +972 3 765 8503; Fax: +972 3 765 8555; Email: erez{at}compugen.co.il
Received July 7, 2005. Revised July 29, 2005. Accepted July 29, 2005.
The relationship between human inherited genomic variations and phenotypic differences has been the focus of much research effort in recent years. These studies benefit from millions of single-nucleotide polymorphism (SNP) records available in public databases, such as dbSNP. The importance of identifying false dbSNP records increases with the growing role played by SNPs in linkage analysis for disease traits. In particular, the emerging understanding of the abundance of DNA and RNA editing calls for a careful distinction between inherited SNPs and somatic DNA and RNA modifications. In order to demonstrate that some of the SNP database records are actually somatic modification, we focus on one type of these modifications, namely A-to-I RNA editing, and present evidence for hundreds of dbSNP records that are actually editing sites. We provide a list of 102 RNA editing sites previously annotated in dbSNP database as SNPs, and experimentally validate seven of these. Interestingly, we show how dbSNP can serve as a starting point to look for new editing sites. Our results, for this particular type of RNA editing, demonstrate the need for a careful analysis of SNP databases in light of the increasing recognition of the significance of somatic sequence modifications.
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