Abstract
Supergenes underlying complex trait polymorphisms ensure that sets of coadapted alleles remain genetically linked. Despite their prevalence in nature, the mechanisms of supergene effects on genome regulation are poorly understood. In the fire ant Solenopsis invicta, a supergene containing over 500 individual genes influences trait variation in multiple castes to collectively underpin a colony level social polymorphism. Here, we present results of an integrative investigation of supergene effects on gene regulation. We present analyses of ATAC-seq data to investigate variation in chromatin accessibility by supergene genotype and STARR-seq data to characterize enhancer activity by supergene haplotype. Integration with gene co-expression analyses, newly mapped intact transposable elements (TEs), and previously identified copy number variants (CNVs) collectively reveals widespread effects of the supergene on chromatin structure, gene transcription, and regulatory element activity, with a genome-wide bias for open chromatin and increased expression in the presence of the derived supergene haplotype, particularly in regions that harbor intact TEs. Integrated consideration of CNVs and regulatory element divergence suggests each evolved in concert to shape the expression of supergene encoded factors, including several transcription factors that may directly contribute to the trans-regulatory footprint of a heteromorphic social chromosome. Overall, we show how genome structure in the form of a supergene has wide-reaching effects on gene regulation and gene expression.
| Original language | English |
|---|---|
| Article number | msaf112 |
| Journal | Molecular Biology and Evolution |
| Volume | 42 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 1 2025 |
Bibliographical note
Publisher Copyright:© 2025 The Author(s).
Funding
We thank the Drosophila Genomics Resource Center (NIH Grant 2P40OD010949) for maintenance of and access to cell lines, the University of Georgia Genomics and Bioinformatics Core for sequencing of ATAC-seq libraries, and the Genomics Core Facility at the Lewis-Sigler Institute for Integrative Genomics at Princeton University for sequencing of STARR-seq libraries. We thank the Drosophila Genomics Resource Center (NIH Grant 2P40OD010949) for maintenance of and access to cell lines, the University of Georgia Genomics and Bioinformatics Core for sequencing of ATAC-seq libraries, and the Genomics Core Facility at the Lewis-Sigler Institute for Integrative Genomics at Princeton University for sequencing of STARR-seq libraries. Funding This work was supported by the U.S. National Science Foundation grants 1754476 to S.D.K. and B.G.H., 1755130 to B.G.H., and 2105033 to M.A.D.G. and support to B.M.J. from the University of Kentucky. This work was supported by the U.S. National Science Foundation grants 1754476 to S.D.K. and B.G.H., 1755130 to B.G.H., and 2105033 to M.A.D.G. and support to B.M.J. from the University of Kentucky.
| Funders | Funder number |
|---|---|
| ATAC-seq | |
| University of Kentucky | |
| U.S. National Science Foundation (NSF) | |
| NIH | 2P40OD010949 |
| National Science Foundation Arctic Social Science Program | 1754476, 1755130, 2105033 |
Keywords
- epigenetics
- evolution
- gene regulation
- supergenes
- trait polymorphism
ASJC Scopus subject areas
- Ecology, Evolution, Behavior and Systematics
- Molecular Biology
- Genetics