The human transcriptome across tissues and individuals
Open accessAbstract
Expression, genetic variation, and tissues: Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this variation on the regulation of gene expression. Furthermore, only a few tissues have been examined per genetic variant. In order to examine how genetic expression varies among tissues within individuals, the Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative genetic traits that affect gene expression and determined which of these exhibit tissue-specific expression patterns. Melé et al.measured how transcription varies among tissues, and Rivas et al.looked at how truncated protein variants affect expression across tissues. Science, this issue p.648, p.660, p.666; see also p.640
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Brain alternative splicing patterns are more distinct than in other organ systems.
“alternative splicing patterns are more distinct than in other organ systems (82).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [82]
Several studies have demonstrated that genes carrying microexons are preferentially expressed in brain and their splicing is dysregulated in autism spectrum disorder.
“several studies have demonstrated that genes carrying microexons are preferentially expressed in brain and their splicing is dysregulated in ASD (30, 82, 83).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [82]
DroNc-seq profiled seven frozen post-mortem human hippocampus and PFC samples from five adults aged 40-65, archived 3.5-5.5 years by GTEx.
“we profiled seven frozen post-mortem samples of human hippocampus and PFC from five adults (40–65 years old), archived for 3.5–5.5 years by the GTEx project18”
From Massively parallel single-nucleus RNA-seq with DroNc-seq (2017) · cites this paper as [18]
Expression profiling during human brain aging is challenging because postmortem tissue can take hours to days to stabilize.
“Expression profiling during human brain aging is particularly challenging since it can take hours to days before postmortem tissue is stabilized (Melé et al., 2015; Soreq et al., 2017; Trabzuni et al., 2011).”
From Atlas of the aging mouse brain reveals white matter as vulnerable foci (2023) · cites this paper as Melé et al., 2015
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- Authors
- Melé, M., Ferreira, P. G., Reverter, F., DeLuca, D. S., Monlong, J., Sammeth, M., Young, T. R., Goldmann, J. M., Pervouchine, D. D., Sullivan, T. J., Johnson, R., Segrè, A. V., Djebali, S., Niarchou, A., Consortium, T. G., Wright, F. A., Lappalainen, T., Calvo, M., Getz, G., Dermitzakis, E. T., Ardlie, K. G., & Guigó, R.
- Affiliations
- Harvard University (US)
- University of Geneva (CH)
- Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain.
- Broad Institute (US)
- Universitat Pompeu Fabra (ES)
- Radboud University Nijmegen (NL)
- North Carolina State University (US)
- Corresponding author
- Melé, Marta
- Ferreira, Pedro G.
- Ardlie, Kristin G.
- Guigó, Roderic
- ORCID
- Venue
- Science
- Published
- 2015-05-08
- Volume
- 348
- Issue
- 6235
- Pages
- 660-665
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4547472
- OpenAlex
- W1816176398
- Cited by
- 1,304
- References
- 67
- Citations by year
- 2026: 44 · 2025: 84 · 2024: 103 · 2023: 87 · 2022: 105 · 2021: 140 · 2020: 148 · 2019: 111 · 2018: 153 · 2017: 158 · 2016: 116 · 2015: 52 · 2014: 2
- FWCI
- 69.29
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- United States National Institutes of Health (HHSN261200800001E, 10XS170, 10XS171, 10X172, 12ST1039, 10ST1035, HHSN268201000029C, R01 DA006227-17, R01 MH090941)
- National Institute of Mental Health
- National Institute on Drug Abuse
- National Heart, Lung, and Blood Institute
- National Human Genome Research Institute
- National Cancer Institute
- National Institute of Neurological Disorders and Stroke
- European Research Council
- Louis-Jeantet Foundation
- Swiss National Science Foundation
- University of North Carolina-Chapel Hill (R01 MH090936)
- Spanish Ministerio de Ciencia e Innovación (BIO2011-26205)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Single-cell and spatial transcriptomics
- Keywords
- human transcriptome, tissue-specific gene expression, GTEx, blood transcriptome, sex differences, ethnicity, age effects
- MeSH terms
- Female, Gene Expression Regulation, Humans, Male, Organ Specificity, Phenotype, Sex Factors, Genome, Human, Alternative Splicing, Sequence Analysis, RNA, Polymorphism, Single Nucleotide, Gene Expression Profiling, Transcriptome
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