Widespread RNA and DNA Sequence Differences in the Human Transcriptome

被引：319

作者：

Li, Mingyao ^{[2
,3
]}

Wang, Isabel X. ^{[1
]}

Li, Yun ^{[4
,5
]}

Bruzel, Alan ^{[1
]}

Richards, Allison L. ^{[6
]}

Toung, Jonathan M. ^{[7
]}

Cheung, Vivian G. ^{[1
,8
,9
]}

机构：

[1] Howard Hughes Med Inst, Chevy Chase, MD 20815 USA

[2] Univ Penn, Sch Med, Dept Biostat, Philadelphia, PA 19104 USA

[3] Univ Penn, Sch Med, Dept Epidemiol, Philadelphia, PA 19104 USA

[4] Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27599 USA

[5] Univ N Carolina, Sch Med, Dept Biostat, Chapel Hill, NC 27599 USA

[6] Univ Penn, Sch Med, Cell & Mol Biol Grad Program, Philadelphia, PA 19104 USA

[7] Univ Penn, Sch Med, Genom & Computat Biol Grad Program, Philadelphia, PA 19104 USA

[8] Univ Penn, Sch Med, Dept Genet, Philadelphia, PA 19104 USA

[9] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

来源：

SCIENCE | 2011年 / 333卷 / 6038期

基金：

美国国家卫生研究院;

关键词：

MESSENGER-RNA; EDITING SITES; IDENTIFICATION; POLYMERASE; CONVERSION; CEPH;

D O I：

10.1126/science.1207018

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：53 / 58

页数：6

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