Published December 2, 2024
| Version v1
Journal article
Open
Cell type and dynamic state govern genetic regulation of gene expression in heterogeneous differentiating cultures
Creators
- 1. Johns Hopkins University
- 2. University of Chicago
Description
Identifying the molecular effects of human genetic variation across cellular contexts is crucial for understanding the mechanisms underlying disease-associated loci, yet many cell types and developmental stages remain underexplored. Here, we harnessed the potential of heterogeneous differentiating cultures (HDCs), an in vitro system in which pluripotent cells asynchronously differentiate into a broad spectrum of cell types. We generated HDCs for 53 human donors and collected single-cell RNA sequencing data from over 900,000 cells. We identified expression quantitative trait loci in 29 cell types and characterized regulatory dynamics across diverse differentiation trajectories. This revealed novel regulatory variants for genes involved in key developmental and disease-related processes while replicating known effects from primary tissues and dynamic regulatory effects associated with a range of complex traits.
Data availability
Raw sequencing data are available in the SRA: SRP496700. Processed single-cell expression data, cell metadata, and pseudocell topic loadings are available at GEO under accession GEO: GSE266500. Genotype data for the YRI population is available through the International Genome Sample Resource at ISGR: https://www.internationalgenome.org/data-portal/population/YRI. Code needed to reproduce the analyses described in this paper is available in a snakemake workflow at Github: https://github.com/jmp448/hdcQTL (and Zenodo: https://doi.org/10.5281/zenodo.14009254). Full summary statistics and lists of all significant variant-gene pairs are available at Zenodo: https://zenodo.org/records/13694387.Files
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Additional details
Identifiers
- DOI
- 10.1016/j.xgen.2024.100701
- Other
- oai:uchicago.tind.io:14358
Funding
- National Institues of Health
- R21HG011170
- National Institues of Health
- R35GM131726
- National Institues of Health
- R35GM139580
- National Institues of Health
- F31HG012896
- National Institues of Health
- T32GM139782