Adaptive functions of structural variants in human brain development DOI Creative Commons
Wanqiu Ding, Xiangshang Li, Jie Zhang

et al.

Science Advances, Journal Year: 2024, Volume and Issue: 10(14)

Published: April 5, 2024

Quantifying the structural variants (SVs) in nonhuman primates could provide a niche to clarify genetic backgrounds underlying human-specific traits, but such resource is largely lacking. Here, we report an accurate SV map population of 562 rhesus macaques, verified by in-house benchmarks eight macaque genomes with long-read sequencing and another one genome assembly. This indicates stronger selective constrains on inversions at regulatory regions, suggesting strategy for prioritizing them most important functions. Accordingly, identified 75 prioritized them. The top-ranked have substantially shaped human transcriptome, through their dual effects reconfiguring ancestral genomic architecture introducing regional mutation hotspots inverted regions. As proof concept, linked APCDD1 , located these down-regulated specifically humans, neuronal maturation cognitive ability. We thus highlight shaping uniqueness brain development.

Language: Английский

A chromosomal inversion contributes to divergence in multiple traits between deer mouse ecotypes DOI
Emily R. Hager, Olivia S. Harringmeyer, T. Brock Wooldridge

et al.

Science, Journal Year: 2022, Volume and Issue: 377(6604), P. 399 - 405

Published: July 21, 2022

How locally adapted ecotypes are established and maintained within a species is long-standing question in evolutionary biology. Using forest prairie of deer mice (

Language: Английский

Citations

98

Supergene origin and maintenance in Atlantic cod DOI Creative Commons
Michael Matschiner, Julia M. I. Barth, Ole K. Tørresen

et al.

Nature Ecology & Evolution, Journal Year: 2022, Volume and Issue: 6(4), P. 469 - 481

Published: Feb. 17, 2022

Abstract Supergenes are sets of genes that inherited as a single marker and encode complex phenotypes through their joint action. They identified in an increasing number organisms, yet origins evolution remain enigmatic. In Atlantic cod, four megabase-scale supergenes have been linked to migratory lifestyle environmental adaptations. Here we investigate the origin maintenance these analysis whole-genome-sequencing data, including new long-read-based genome assembly for non-migratory cod individual. We corroborate finding chromosomal inversions underlie all supergenes, show they originated at different times between 0.40 1.66 million years ago. reveal gene flux supergene haplotypes where stationary co-occur conclude this is driven by conversion, on basis increase GC content exchanged sites. Additionally, find evidence double crossover haplotypes, leading exchange ~275 kilobase fragment with potentially involved adaptation low salinity Baltic Sea. Our results suggest can be maintained over long timescales same way hybridizing species, selective purging introduced genetic variation.

Language: Английский

Citations

90

Chromosomal inversion polymorphisms shape the genomic landscape of deer mice DOI Creative Commons
Olivia S. Harringmeyer, Hopi E. Hoekstra

Nature Ecology & Evolution, Journal Year: 2022, Volume and Issue: 6(12), P. 1965 - 1979

Published: Oct. 17, 2022

Abstract Chromosomal inversions are an important form of structural variation that can affect recombination, chromosome structure and fitness. However, because be challenging to detect, the prevalence hence significance segregating within species remains largely unknown, especially in natural populations mammals. Here, by combining population-genomic long-read sequencing analyses a single, widespread deer mouse ( Peromyscus maniculatus ), we identified 21 polymorphic large (1.5–43.8 Mb) cause near-complete suppression recombination when heterozygous (0–0.03 cM Mb −1 ). We found inversion breakpoints frequently occur centromeric telomeric regions often flanked long inverted repeats (0.5–50 kb), suggesting they probably arose via ectopic recombination. By genotyping across species’ range, do not harbour deleterious mutational loads, many likely maintained as polymorphisms divergent selection. Comparisons forest prairie ecotypes mice revealed 13 contribute differentiation between populations, which five exhibit significant associations with traits implicated local adaptation. Taken together, these results show have impact on genome genetic diversity facilitate adaptation range this species.

Language: Английский

Citations

81

How chromosomal inversions reorient the evolutionary process DOI Creative Commons
Emma L. Berdan, Nick Barton, Roger K. Butlin

et al.

Journal of Evolutionary Biology, Journal Year: 2023, Volume and Issue: 36(12), P. 1761 - 1782

Published: Nov. 9, 2023

Abstract Inversions are structural mutations that reverse the sequence of a chromosome segment and reduce effective rate recombination in heterozygous state. They play major role adaptation, as well other evolutionary processes such speciation. Although inversions have been studied since 1920s, they remain difficult to investigate because reduced conferred by them strengthens effects drift hitchhiking, which turn can obscure signatures selection. Nonetheless, numerous found be under Given recent advances population genetic theory empirical study, here we review how different mechanisms selection affect evolution inversions. A key difference between mutations, single nucleotide variants, is fitness an inversion may affected larger number frequently interacting processes. This considerably complicates analysis causes underlying We discuss extent these disentangled, approach. often roles adaptation speciation, but direct their obscured characteristic makes so unique (reduced arrangements). In this review, examine impact evolution, weaving together both theoretical studies. emphasize most patterns overdetermined (i.e. caused multiple processes), highlight new technologies provide path forward towards disentangling mechanisms.

Language: Английский

Citations

48

A single gene orchestrates androgen variation underlying male mating morphs in ruffs DOI
Jasmine L. Loveland, Alex Zemella, Vladimir Jovanović

et al.

Science, Journal Year: 2025, Volume and Issue: 387(6732), P. 406 - 412

Published: Jan. 23, 2025

Androgens are pleiotropic and play pivotal roles in the formation variation of sexual phenotypes. We show that differences circulating androgens between three male mating morphs ruff sandpipers linked to 17-beta hydroxysteroid dehydrogenase 2 (HSD17B2), encoded by a gene within supergene determines morphs. Low-testosterone males had higher HSD17B2 expression blood than high-testosterone males, as well brain areas related social behaviors testosterone production. Derived isozymes, which absent but preferentially expressed low-testosterone converted androstenedione faster ancestral isozyme. Thus, combination evolutionary changes regulation, sequence, structure single introduces endocrine underlying reproductive

Language: Английский

Citations

5

Leveraging a phased pangenome for haplotype design of hybrid potato DOI Creative Commons
Lin Cheng, Nan Wang, Zhigui Bao

et al.

Nature, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 22, 2025

Language: Английский

Citations

4

The Genomic Architecture and Evolutionary Fates of Supergenes DOI Creative Commons
Juanita Gutiérrez‐Valencia, P. William Hughes, Emma L. Berdan

et al.

Genome Biology and Evolution, Journal Year: 2021, Volume and Issue: 13(5)

Published: March 16, 2021

Supergenes are genomic regions containing sets of tightly linked loci that control multi-trait phenotypic polymorphisms under balancing selection. Recent advances in genomics have uncovered significant variation both the architecture as well mode origin supergenes across diverse organismal systems. Although role for has been much discussed, differences also subsequently affect evolutionary trajectory and rate degeneration supergene haplotypes. In this review, we synthesize recent work historical models evolution, highlighting how affects their fate. We discuss findings on classic involved governing ant colony social form, mimicry butterflies, heterostyly flowering plants relate to theoretical expectations. Furthermore, use forward simulations demonstrate supergenes. Finally, implications evolution haplotypes long-term fate balanced governed by

Language: Английский

Citations

84

Locally Adaptive Inversions Modulate Genetic Variation at Different Geographic Scales in a Seaweed Fly DOI Creative Commons
Claire Mérot, Emma L. Berdan, Hugo Cayuela

et al.

Molecular Biology and Evolution, Journal Year: 2021, Volume and Issue: 38(9), P. 3953 - 3971

Published: May 5, 2021

Across a species range, multiple sources of environmental heterogeneity, at both small and large scales, create complex landscapes selection, which may challenge adaptation, particularly when gene flow is high. One key to multidimensional adaptation reside in the heterogeneity recombination along genome. Structural variants, like chromosomal inversions, reduce recombination, increasing linkage disequilibrium among loci potentially massive scale. In this study, we examined how inversions shape genetic variation across range ask their contribution face varies geographic scales. We sampled seaweed fly Coelopa frigida bioclimatic gradient stretching 10° latitude, salinity gradient, heterogeneous, patchy habitats. generated chromosome-level genome assembly analyze 1,446 low-coverage whole genomes collected those gradients. found several nonrecombining genomic regions, including putative inversions. contrast collinear low-recombining regions differentiated populations more strongly, either an ecogeographic cline or fine-grained These were associated with factors adaptive phenotypes, albeit contrasting patterns. Altogether, our results highlight importance shaping local

Language: Английский

Citations

74

Genomic structural variants constrain and facilitate adaptation in natural populations of Theobroma cacao , the chocolate tree DOI Open Access
Tuomas Hämälä, Eric Wafula, Mark J. Guiltinan

et al.

Proceedings of the National Academy of Sciences, Journal Year: 2021, Volume and Issue: 118(35)

Published: Aug. 18, 2021

Significance Genomic structural variants (SVs) are frequent contributors to adaptation and speciation, but our understanding of their overall fitness consequences is limited, with data analyses primarily available for humans short-lived domesticated species. Here, we use 31 high-quality genome assemblies study the evolutionary impact SVs among natural populations Theobroma cacao . We find that most deleterious thus constrain adaptation. These detrimental effects likely arise as a direct result impaired gene function an indirect suppressed recombination. Yet detect several may contribute local mainly through traits involved in pathogen resistance. Overall, provide important insight into processes underlying populations.

Language: Английский

Citations

71

Inversion invasions: when the genetic basis of local adaptation is concentrated within inversions in the face of gene flow DOI
Sara M. Schaal, Benjamin C. Haller, Katie E. Lotterhos

et al.

Philosophical Transactions of the Royal Society B Biological Sciences, Journal Year: 2022, Volume and Issue: 377(1856)

Published: June 13, 2022

Across many species where inversions have been implicated in local adaptation, genomes often evolve to contain multiple, large that arise early divergence. Why this occurs has yet be resolved. To address gap, we built forward-time simulations which flexible characteristics and can invade a metapopulation undergoing spatially divergent selection for highly polygenic trait. In our simulations, typically arose divergence, captured standing genetic variation upon mutation, then accumulated small-effect loci over time. Under special conditions, could also late adaptation capture locally adapted alleles. Polygenic behaved similarly single supergene of effect were detectable by genome scans. Our results show adaptive found empirical studies (e.g. multiple large, old are F ST outliers, sometimes overlapping with other inversions) consistent architecture, do not need any large-effect genes play an important role adaptation. By combining population quantitative framework, give deeper understanding the specific conditions needed involved when architecture is polygenic. This article part theme issue ‘Genomic supergenes: causes evolutionary consequences’.

Language: Английский

Citations

58