Human genomics. The human transcriptome across tissues and individuals.
Authors | |
Keywords | |
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. |
Year of Publication | 2015
|
Journal | Science
|
Volume | 348
|
Issue | 6235
|
Pages | 660-5
|
Date Published | 2015 May 08
|
ISSN | 1095-9203
|
URL | |
DOI | 10.1126/science.aaa0355
|
PubMed ID | 25954002
|
PubMed Central ID | PMC4547472
|
Links | |
Grant list | R01 DA006227-17 / DA / NIDA NIH HHS / United States
R01 DA006227 / DA / NIDA NIH HHS / United States
R01 MH090936 / MH / NIMH NIH HHS / United States
HHSN261200800001E / PHS HHS / United States
HHSN268201000029C / PHS HHS / United States
R01 MH090941 / MH / NIMH NIH HHS / United States
HHSN261200800001C / RC / CCR NIH HHS / United States
HHSN268201000029C / HL / NHLBI NIH HHS / United States
HHSN261200800001E / CA / NCI NIH HHS / United States
|