Incomplete recombination suppression fuels extensive haplotype diversity in a butterfly colour pattern supergene

Supergenes can evolve when recombination-suppressing mechanisms like inversions promote co-inheritance of alleles at two or more polymorphic loci that affect a complex trait. Theory shows that such genetic architectures can be favoured under balancing selection or local adaptation in the face of gene flow, but they can also bring costs associated with reduced opportunities for recombination. These costs may in turn be offset by rare 'gene flux' between inverted and ancestral haplotypes, with a range of possible outcomes. We aimed to shed light on these processes by investigating the 'BC supergene', a large genomic region comprising multiple rearrangements associated with three distinct wing colour morphs in Danaus chrysippus, a butterfly known as the African monarch, African queen and plain tiger. Using whole-genome resequencing data from 174 individuals, we first confirm the effects of BC on wing colour pattern: background melanism is associated with SNPs in the promoter region of yellow, within an inverted subregion of the supergene, while forewing tip pattern is most likely associated with copy-number variation in a separate subregion of the supergene. We then show that haplotype diversity within the supergene is surprisingly extensive: there are at least six divergent haplotype groups that experience suppressed recombination with respect to each other. Despite high divergence between these haplotype groups, we identify an unexpectedly large number of natural recombinant haplotypes. Several of the inferred crossovers occurred between adjacent inversion 'modules', while others occurred within inversions. Furthermore, we show that new haplotype groups have arisen through recombination between two pre-existing ones. Specifically, an allele for dark colouration in the promoter of yellow has recombined into distinct haplotype backgrounds on at least two separate occasions. Overall, our findings paint a picture of dynamic evolution of supergene haplotypes, fuelled by incomplete recombination suppression.

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Publication Details

Journal
PLoS Biology
Published
2025-02-28
DOI
https://doi.org/10.1371/journal.pbio.3003043
Citations
6
Primary Topic
Genetic diversity and population structure
Type
article
Field-Weighted Citation Impact
10.90

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article

Incomplete recombination suppression fuels extensive haplotype diversity in a butterfly colour pattern supergene

Reinier F. Terblanche, Dino J. Martins, Kennedy Saitoti Omufwoko, Rishi De‐Kayne et al.
6 citations
PLoS Biology
Genetic diversity and population structure
10.90
article

Incomplete recombination suppression fuels extensive haplotype diversity in a butterfly colour pattern supergene

Reinier F. Terblanche, Dino J. Martins, Kennedy Saitoti Omufwoko, Rishi De‐Kayne, Steve C. Collins, Simon H. Martin, I. Gordon
article en
6 citations

Abstract

Supergenes can evolve when recombination-suppressing mechanisms like inversions promote co-inheritance of alleles at two or more polymorphic loci that affect a complex trait. Theory shows that such genetic architectures can be favoured under balancing selection or local adaptation in the face of gene flow, but they can also bring costs associated with reduced opportunities for recombination. These costs may in turn be offset by rare 'gene flux' between inverted and ancestral haplotypes, with a range of possible outcomes. We aimed to shed light on these processes by investigating the 'BC supergene', a large genomic region comprising multiple rearrangements associated with three distinct wing colour morphs in Danaus chrysippus, a butterfly known as the African monarch, African queen and plain tiger. Using whole-genome resequencing data from 174 individuals, we first confirm the effects of BC on wing colour pattern: background melanism is associated with SNPs in the promoter region of yellow, within an inverted subregion of the supergene, while forewing tip pattern is most likely associated with copy-number variation in a separate subregion of the supergene. We then show that haplotype diversity within the supergene is surprisingly extensive: there are at least six divergent haplotype groups that experience suppressed recombination with respect to each other. Despite high divergence between these haplotype groups, we identify an unexpectedly large number of natural recombinant haplotypes. Several of the inferred crossovers occurred between adjacent inversion 'modules', while others occurred within inversions. Furthermore, we show that new haplotype groups have arisen through recombination between two pre-existing ones. Specifically, an allele for dark colouration in the promoter of yellow has recombined into distinct haplotype backgrounds on at least two separate occasions. Overall, our findings paint a picture of dynamic evolution of supergene haplotypes, fuelled by incomplete recombination suppression.

PLoS BiologyVol. 23(2)
Princeton University (US), Stellenbosch University (ZA), University of Rwanda (RW), Mpala Research Center and Wildlife Foundation (KE), Stony Brook University (US), University of California, Berkeley (US), University of Edinburgh (GB)
National Geographic Society, Royal Society, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
Life in Land
Openalex Percentile: Top 2%
Genetic diversity and population structure
10.90
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