The human transcriptome across tissues and individuals

TitleThe human transcriptome across tissues and individuals
Publication TypeJournal Article
Year of Publication2015
AuthorsMelé M, Ferreira PG, Reverter F, DeLuca DS, Monlong J, Sammeth M, Young TR, Goldmann JM, Pervouchine DD, Sullivan TJ, Johnson R, Segrè AV, Djebali S, Niarchou A, Consortium TGTE, Wright FA, Lappalainen T, Calvo M, Getz G, Dermitzakis ET, Ardlie KG, Guigó R
JournalScience (New York, N.Y.)
Volume348
Pagination660–665
Date PublishedMay
ISSN1095-9203
Abstract

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.

URLhttp://www.ncbi.nlm.nih.gov/pubmed/25954002
DOI10.1126/science.aaa0355
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Abstract: http://www.sciencemag.org/cgi/content/abstract/348/6235/660?ijkey=4lywH0bsHCaDw&keytype=ref&siteid=sci

Reprint: http://www.sciencemag.org/cgi/rapidpdf/348/6235/660?ijkey=4lywH0bsHCaDw&keytype=ref&siteid=sci

Full Text: http://www.sciencemag.org/cgi/content/full/348/6235/660?ijkey=4lywH0bsHCaDw&keytype=ref&siteid=sci