人类转录组中广泛存在的 RNA 和 DNA 序列差异。
Widespread RNA and DNA sequence differences in the human transcriptome.
机构信息
Department of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
出版信息
Science. 2011 Jul 1;333(6038):53-8. doi: 10.1126/science.1207018. Epub 2011 May 19.
Abstract
The transmission of information from DNA to RNA is a critical process. We compared RNA sequences from human B cells of 27 individuals to the corresponding DNA sequences from the same individuals and uncovered more than 10,000 exonic sites where the RNA sequences do not match that of the DNA. All 12 possible categories of discordances were observed. These differences were nonrandom as many sites were found in multiple individuals and in different cell types, including primary skin cells and brain tissues. Using mass spectrometry, we detected peptides that are translated from the discordant RNA sequences and thus do not correspond exactly to the DNA sequences. These widespread RNA-DNA differences in the human transcriptome provide a yet unexplored aspect of genome variation.
摘要
从 DNA 到 RNA 的信息传递是一个关键过程。我们将 27 个人的人类 B 细胞的 RNA 序列与同一人的相应 DNA 序列进行比较，发现了超过 10000 个外显子位点，这些位点的 RNA 序列与 DNA 不匹配。观察到了所有 12 种可能的不一致类别。这些差异不是随机的，因为许多位点在多个个体和不同的细胞类型中都有发现，包括原代皮肤细胞和脑组织。使用质谱法，我们检测到了从这些不一致的 RNA 序列翻译而来的肽，因此它们与 DNA 序列不完全对应。人类转录组中这些广泛存在的 RNA-DNA 差异为基因组变异提供了一个尚未被探索的方面。
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