Widespread RNA and DNA sequence differences in the human transcriptome.

Widespread RNA and DNA sequence differences in the human transcriptome.
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DOI:
10.1126/science.1207018
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发表时间:
2011-07-01
期刊:
Science (New York, N.Y.)
影响因子:
--
通讯作者:
Cheung VG
Cheung VG
中科院分区:
其他
文献类型:
--
作者:
Li M;Wang IX;Li Y;Bruzel A;Richards AL;Toung JM;Cheung VG

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从DNA到RNA的信息传递是一个关键过程。我们比较了27个个体的人类B细胞的RNA序列与相同个体的相应DNA序列,发现了超过10,000个RNA序列与DNA序列不匹配的外显子位点。观察到所有12种可能的不一致性类别。这些差异是非随机的,因为在多个个体和不同的细胞类型中发现了许多位点,包括原代皮肤细胞和脑组织。使用质谱法,我们检测到从不一致的RNA序列翻译的肽,因此不完全对应于DNA序列。人类转录组中这些广泛存在的RNA-DNA差异提供了基因组变异尚未探索的方面。
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.
DOI: 10.1038/nature06258
发表时间: 2007-10-18
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