The human transcriptome across tissues and individuals

• Type: Article in International Scientific Journal
• Date: 2015

Authors

Melé, M (Author) Other; Ferreira, PG (Author) Other; Reverter, F (Author) Other; DeLuca, DS (Author) Other; Monlong, J (Author) Other; Sammeth, M (Author) Other; Young, TR (Author) Other; Goldmann, JM (Author) Other; Pervouchine, DD (Author) Other; Sullivan, TJ (Author) Other; Johnson, R (Author) Other; Segrè, AV (Author) Other; Djebali, S (Author) Other; Niarchou, A (Author) Other; Wright, FA (Author) Other; Lappalainen, T (Author) Other; Calvo, M (Author) Other; Getz, G (Author) Other; Dermitzakis, ET (Author) Other; Ardlie, KG (Author) Other; Guigó, R (Author) Other

Journal

Title: Science

Vol. 348

Pages: 660-665

ISSN: 0036-8075

Publisher: American Association for the Advancement of Science

Indexing

Scopus - 902 Citations

Scientific classification

CORDIS: Natural sciences > Biological sciences > Biology > Computational biology

FOS: Natural sciences > Computer and information sciences ; Natural sciences > Biological sciences

Other information

Authenticus ID: P-00Q-55B

DOI: 10.1126/science.aaa0355

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific