Published October 21, 2020 | Version v1
Journal article Open

Gene expression variability in human and chimpanzee populations share common determinants

  • 1. University of Chicago
  • 2. University of California, San Francisco

Description

Inter-individual variation in gene expression has been shown to be heritable and is often associated with differences in disease susceptibility between individuals. Many studies focused on mapping associations between genetic and gene regulatory variation, yet much less attention has been paid to the evolutionary processes that shape the observed differences in gene regulation between individuals in humans or any other primate. To begin addressing this gap, we performed a comparative analysis of gene expression variability and expression quantitative trait loci (eQTLs) in humans and chimpanzees, using gene expression data from primary heart samples. We found that expression variability in both species is often determined by non-genetic sources, such as cell-type heterogeneity. However, we also provide evidence that inter-individual variation in gene regulation can be genetically controlled, and that the degree of such variability is generally conserved in humans and chimpanzees. In particular, we found a significant overlap of orthologous genes associated with eQTLs in both species. We conclude that gene expression variability in humans and chimpanzees often evolves under similar evolutionary pressures.

Data availability

RNA-Seq data available under GEO accession number GSE151397. Raw whole genome sequencing data under SRA accession PRJNA635393. Processed whole genome sequencing data available as variant calls at European variation archive, EVA accession PRJEB39475.

The following data sets were generated:

Fair BJ Blake LE Chavarria C Sarkar A Pavlovic BJ Gilad YY (2020) NCBI Gene Expression Omnibus ID GSE151397. Gene expression variability in human and chimpanzee populations share common determinants. https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE151397

Fair BJ Blake LE Chavarria C Sarkar A Pavlovic BJ Gilad YY (2020) NCBI BioProject ID PRJNA635393. Whole genome sequencing of 39 captive born chimpanzees. https://www.ncbi.nlm.nih.gov/bioproject/PRJNA635393/

Fair BJ (2020) EBI European Variation Archive ID PRJEB39475. Whole genome sequencing of 39 captive born chimpanzees. https://www.ebi.ac.uk/eva/?eva-study=PRJEB39475

The following previously published data sets were used:

Pavlovic BJ Blake LE Chavarria C Gilad Y (2018) NCBI Gene Expression Omnibus ID GSE110471. A Comparative Assessment of iPSC Derived Cardiomyocytes with Heart Tissues in Humans and Chimpanzees. https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE110471

The GTEx Consortium (2019) dbGaP ID phs000424.v8.p2. GTEx Analysis V8. https://www.gtexportal.org/home/datasets

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Additional details

Identifiers

DOI
10.7554/eLife.59929
Other
oai:uchicago.tind.io:9918

Funding

National Institute of General Medical Sciences
R35GM131726

UChicago Information

Division(s)
Biological Sciences Division
Department(s)
Human Genetics, Medicine