期刊
SCIENCE
卷 348, 期 6235, 页码 660-665出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aaa0355
关键词
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资金
- Common Fund of the Office of the Director of the National Institutes of Health
- National Cancer Institute (NCI)
- National Human Genome Research Institute
- National Heart, Lung, and Blood Institute
- National Institute on Drug Abuse
- National Institute of Mental Health
- National Institute of Neurological Disorders and Stroke
- United States National Institutes of Health [HHSN261200800001E, 10XS170, 10XS171, 10X172, 12ST1039, 10ST1035, HHSN268201000029C, R01 DA006227-17, R01 MH090941]
- European Research Council
- Swiss National Science Foundation
- Louis-Jeantet Foundation [R01 MH090936]
- Spanish Ministerio de Ciencia e Innovacion (MICINN) [BIO2011-26205]
- Generalitat de Catalunya [2014 SGR 464, 2014 SGR 1319]
- European Research Council-European Commission [294653]
- European Research Council (ERC) [294653] Funding Source: European Research Council (ERC)
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.
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