Published December 2, 2024 | Version v1
Journal article Open

Cell type and dynamic state govern genetic regulation of gene expression in heterogeneous differentiating cultures

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

Cell-type-and-dynamic-state-govern-genetic-regulation-of-gene-expression-in-heterogeneous-differentiating-cultures.pdf

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

UChicago Information

Division(s)
Biological Sciences Division
Department(s)
Genetics, Genomics, and Systems Biology, Human Genetics, Medicine