The human transcriptome across tissues and individuals

被引：906

作者：

Mele, Marta ^{[1
,2
]}

Ferreira, Pedro G. ^{[1
,3
,4
,5
,6
]}

Reverter, Ferran ^{[1
,7
,8
]}

DeLuca, David S. ^{[9
]}

Monlong, Jean ^{[1
,8
,10
]}

Sammeth, Michael ^{[1
,8
,11
]}

Young, Taylor R. ^{[9
]}

Goldmann, Jakob M. ^{[1
,8
,12
]}

Pervouchine, Dmitri D. ^{[1
,8
,13
]}

Sullivan, Timothy J. ^{[9
]}

Johnson, Rory ^{[1
,8
]}

Segre, Ayellet V. ^{[9
]}

Djebali, Sarah ^{[1
,8
]}

Niarchou, Anastasia ^{[3
,4
,5
,6
]}

Wright, Fred A. ^{[14
]}

Lappalainen, Tuuli ^{[3
,4
,5
,6
,15
,16
]}

Calvo, Miquel ^{[7
]}

Getz, Gad ^{[9
,17
,18
]}

Dermitzakis, Emmanouil T. ^{[3
,4
,5
,6
]}

Ardlie, Kristin G. ^{[9
]}

Guigo, Roderic ^{[1
,8
,19
,20
]}

机构：

[1] CRG, Barcelona, Catalonia, Spain

[2] Harvard Univ, Harvard Dept Stem Cell & Regenerat Biol, Cambridge, MA 02138 USA

[3] Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

[4] Univ Geneva, Inst Genet, Geneva, Switzerland

[5] Univ Geneva, Genom Geneva iGE3, Geneva, Switzerland

[6] Swiss Inst Bioinformat, Geneva, Switzerland

[7] UB, Fac Biol, Barcelona, Catalonia, Spain

[8] UPF, Barcelona, Catalonia, Spain

[9] Broad Inst & Harvard, Cambridge, MA USA

[10] McGill Univ, Montreal, PQ, Canada

[11] Natl Inst Sci Comp LNCC, Rio De Janeiro, Brazil

[12] Radboud Univ Nijmegen, NL-6525 ED Nijmegen, Netherlands

[13] Moscow MV Lomonosov State Univ, Fac Bioengn & Bioinformat, Moscow 119992, Russia

[14] N Carolina State Univ, Raleigh, NC 27695 USA

[15] New York Genome Ctr, New York, NY USA

[16] Columbia Univ, Dept Syst Biol, New York, NY USA

[17] Massachusetts Gen Hosp, Canc Ctr, Boston, MA 02114 USA

[18] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA

[19] Inst Hosp Mar Invest Med IMIM, Barcelona, Catalonia, Spain

[20] IRB, Joint CRG Barcelona Super Comp Ctr BSC, Program Computat Biol, Barcelona, Catalonia, Spain

来源：

SCIENCE | 2015年 / 348卷 / 6235期

基金：

瑞士国家科学基金会; 欧洲研究理事会; 美国国家卫生研究院;

关键词：

REVEALS; DISCOVERY;

D O I：

10.1126/science.aaa0355

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：

Transcriptional regulation and posttranscriptional processing underlie many cellular and organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue Expression (GTEx) project to investigate the patterns of transcriptome variation across individuals and tissues. Tissues exhibit characteristic transcriptional signatures that show stability in postmortem samples. These signatures are dominated by a relatively small number of genes-which is most clearly seen in blood-though few are exclusive to a particular tissue and vary more across tissues than individuals. Genes exhibiting high interindividual expression variation include disease candidates associated with sex, ethnicity, and age. Primary transcription is the major driver of cellular specificity, with splicing playing mostly a complementary role; except for the brain, which exhibits a more divergent splicing program. Variation in splicing, despite its stochasticity, may play in contrast a comparatively greater role in defining individual phenotypes.

引用

页码：660 / 665

页数：6

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