Identification of RNA editing sites in the SNP database.
Identification of RNA editing sites in the SNP database.
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DOI：
10.1093/nar/gki771
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发表时间：
2005
影响因子：
14.9
通讯作者：
Levanon EY
中科院分区：
文献类型：
--
作者：
Eisenberg E;Adamsky K;Cohen L;Amariglio N;Hirshberg A;Rechavi G;Levanon EY
人类遗传基因组变异与表型差异之间的关系是近年来研究的热点。这些研究受益于公共数据库（如dbSNP）中数百万条单核苷酸多态性（SNP）记录。随着SNP在疾病性状连锁分析中的作用越来越大，识别错误dbSNP记录的重要性也越来越大。特别是，对DNA和RNA编辑的丰富性的新认识要求仔细区分遗传的SNP和体细胞DNA和RNA修饰。为了证明一些SNP数据库记录实际上是体细胞修饰，我们专注于这些修饰的一种类型，即A到I RNA编辑，并为数百个实际上是编辑位点的dbSNP记录提供证据。我们提供了102个RNA编辑位点的列表，这些位点先前在dbSNP数据库中被注释为SNP，并通过实验验证了其中的7个。有趣的是，我们展示了dbSNP如何作为寻找新编辑位点的起点。对于这种特定类型的RNA编辑，我们的结果表明，鉴于人们越来越认识到体细胞序列修饰的重要性，需要对SNP数据库进行仔细分析。
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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影响因子：
30.8
作者：
Buetow, KH;Edmonson, MN;Cassidy, AB
通讯作者：
Cassidy, AB
影响因子：
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作者：
BRUSA, R;ZIMMERMANN, F;SPRENGEL, R
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SPRENGEL, R
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作者：
Esnault, C;Heidmann, O;Schwartz, O
通讯作者：
Schwartz, O
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作者：
Petersen-Mahrt, SK;Harris, RS;Neuberger, MS
通讯作者：
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影响因子：
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作者：
Blow, M;Futreal, PA;Stratton, MR
通讯作者：
Stratton, MR