Nejvíce citovaný článek - PubMed ID 33751096
Genetic variation underpins evolutionary change, but mutation accumulation increases genetic load. Various factors affect the extent of load, such as population size and breeding system, but other important determinants remain unexplored. In particular, whole-genome duplication (WGD)-a pervasive macromutation occurring broadly across Eukaryotes-remains poorly understood in terms of its impact on neutral and selective processes within populations. Using iterative forward simulations and empirical analysis of 632 short- and 16 long-read sequenced individuals of Arabidopsis arenosa (in 23 diploid and 42 natural autotetraploid populations), we measure the effects of WGD on genome-wide diversity and mutation load. Our simulations show how genetic variation gradually rises in autotetraploids due to increased mutational target size. Moreover, mutation load increases due to relaxed purifying selection as ploidies rise, when deleterious mutations are masked by additional chromosome copies. Empirical data confirm these patterns, showing significant increases in nucleotide diversity, ratios of nonsynonymous to synonymous SNPs, and numbers of indels and large structural variants in A. arenosa autotetraploids. However, a rather modest increase in load proxies together with a broad distribution and niche of autotetraploids suggests load accumulation has not yet limited their successful expansion. Overall, we demonstrate a complex interplay between neutral processes and purifying selection in shaping genetic variation following WGD and highlight ploidy as an important determinant of mutation load, genetic diversity, and therefore adaptive potential in natural populations.
- Klíčová slova
- Arabidopsis, evolution, genetic load, genomics, natural selection,
- MeSH
- akumulace mutací * MeSH
- Arabidopsis * genetika MeSH
- duplikace genu MeSH
- genetická zátěž * MeSH
- genom rostlinný * MeSH
- jednonukleotidový polymorfismus MeSH
- molekulární evoluce MeSH
- mutace INDEL MeSH
- selekce (genetika) MeSH
- strukturální variace genomu MeSH
- tetraploidie * MeSH
- Publikační typ
- časopisecké články MeSH
Polyploidization (whole-genome duplication, WGD) is a widespread large-effect macromutation with far-reaching genomic, phenotypic, and evolutionary consequences. Yet, we do not know whether the consistent phenotypic changes that are associated with polyploidization translate into predictable changes in ecological preferences. Niche modeling studies in mixed-ploidy species provide an opportunity to compare recently originated polyploids with their lower-ploidy ancestors. However, the available isolated studies provide contrasting results and the diverse methodologies used limit generalization. Based on 25,857 georeferenced ploidy-verified occurrence data for 129 mixed-ploidy flowering plant species, we tested in a unified statistical framework whether WGD is associated with consistent changes in climatic niche and in past, current, and predicted future range size. We found that 74% of species exhibited significant niche shifts associated with ploidy transition. However, there was no consistent environmental parameter underlying ploidy differentiation across species, nor was there consistent support for polyploid range or niche expansion in a subset of 75 densely sampled species with sufficient data for modeling. Our results demonstrate that polyploidization is an important factor affecting niche evolution of a species, but the environmental parameters underlying the ploidy-related niche shifts vary from species to species, demonstrating limited predictability of the outcomes of WGD in ecological space.
- Klíčová slova
- ecological differentiation, environmental niche modelling, meta-analysis, niche evolution, polyploidy,
- MeSH
- biologická evoluce MeSH
- duplikace genu * MeSH
- ekosystém * MeSH
- genom rostlinný * MeSH
- Magnoliopsida * genetika MeSH
- ploidie MeSH
- podnebí * MeSH
- polyploidie * MeSH
- Publikační typ
- časopisecké články MeSH
Numerous plant species are expanding their native ranges due to anthropogenic environmental change. Because cytotypes of polyploid complexes often show similar morphologies, there may be unnoticed range expansions (i.e. cryptic invasions) of one cytotype into regions where only the other cytotype is native. We critically revised herbarium specimens of diploid and tetraploid Centaurea stoebe, collected across Europe between 1790 and 2023. Based on their distribution in natural and relict habitats and phylogeographic data, we estimated the native ranges of both cytotypes. Diploids are native across their entire European range, whereas tetraploids are native only to South-Eastern Europe and have recently expanded their range toward Central Europe. The proportion of tetraploids has exponentially increased over time in their expanded but not in their native range. This cryptic invasion predominantly occurred in ruderal habitats and enlarged the climatic niche of tetraploids toward a more oceanic climate. We conclude that spatio-temporally explicit assessments of range shifts, habitat preferences and niche evolution can improve our understanding of cryptic invasions. We also emphasize the value of herbarium specimens for accurate estimation of species´ native ranges, with fundamental implications for the design of research studies and the assessment of biodiversity trends.
- Klíčová slova
- Centaurea stoebe (spotted knapweed), climatic niche, colonization ability, cryptic invasion, herbarium specimens, polyploidy, range expansion, ruderal habitats,
- MeSH
- Centaurea * genetika fyziologie MeSH
- diploidie MeSH
- ekosystém MeSH
- fylogeografie MeSH
- polyploidie * MeSH
- zavlečené druhy * MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
BACKGROUND: Polyploidisation often results in genome rearrangements that may involve changes in both the single-copy sequences and the repetitive genome fraction. In this study, we performed a comprehensive comparative analysis of repetitive DNA, with a particular focus on ribosomal DNA (rDNA), in Brachypodium hybridum (2n = 4x = 30, subgenome composition DDSS), an allotetraploid resulting from a natural cross between two diploid species that resemble the modern B. distachyon (2n = 10; DD) and B. stacei (2n = 20; SS). Taking advantage of the recurrent origin of B. hybridum, we investigated two genotypes, Bhyb26 and ABR113, differing markedly in their evolutionary age (1.4 and 0.14 Mya, respectively) and which resulted from opposite cross directions. To identify the origin of rDNA loci we employed cytogenetic and molecular methods (FISH, gCAPS and Southern hybridisation), phylogenetic and genomic approaches. RESULTS: Unlike the general maintenance of doubled gene dosage in B. hybridum, the rRNA genes showed a remarkable tendency towards diploidisation at both locus and unit levels. While the partial elimination of 35S rDNA units occurred in the younger ABR113 lineage, unidirectional elimination of the entire locus was observed in the older Bhyb26 lineage. Additionally, a novel 5S rDNA family was amplified in Bhyb26 replacing the parental units. The 35S and 5S rDNA units were preferentially eliminated from the S- and D-subgenome, respectively. Thus, in the more ancient B. hybridum lineage, Bhyb26, 5S and 35S rRNA genes are likely expressed from different subgenomes, highlighting the complexity of polyploid regulatory networks. CONCLUSION: Comparative analyses between two B. hybridum lineages of distinct evolutionary ages revealed that although the recent lineage ABR113 exhibited an additive pattern of rDNA loci distribution, the ancient lineage Bhyb26 demonstrated a pronounced tendency toward diploidisation manifested by the reduction in the number of both 35S and 5S loci. In conclusion, the age of the allopolyploid appears to be a decisive factor in rDNA turnover in B. hybridum.
- Klíčová slova
- Brachypodium hybridum, 35S rDNA IGS, FISH, 5S rDNA NTS, nrITS, rDNA loci,
- MeSH
- Brachypodium * genetika MeSH
- fylogeneze * MeSH
- genetická variace MeSH
- genom rostlinný MeSH
- geny rRNA genetika MeSH
- molekulární evoluce * MeSH
- polyploidie * MeSH
- ribozomální DNA genetika MeSH
- RNA ribozomální genetika MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- ribozomální DNA MeSH
- RNA ribozomální MeSH
The molecular underpinnings and consequences of cycles of whole-genome duplication (WGD) and subsequent gene loss through subgenome fractionation remain largely elusive. Endogenous drivers, such as transposable elements (TEs), have been postulated to shape genome-wide dominance and biased fractionation, leading to a conserved least-fractionated (LF) subgenome and a degenerated most-fractionated (MF) subgenome. In contrast, the role of exogenous factors, such as those induced by environmental stresses, has been overlooked. In this study, a chromosome-scale assembly of the alpine buckler mustard (Biscutella laevigata; Brassicaceae) that underwent a WGD event about 11 million years ago is coupled with transcriptional responses to heat, cold, drought, and herbivory to assess how gene expression is associated with differential gene retention across the MF and LF subgenomes. Counteracting the impact of TEs in reducing the expression and retention of nearby genes across the MF subgenome, dosage balance is highlighted as a main endogenous promoter of the retention of duplicated gene products under purifying selection. Consistent with the "turn a hobby into a job" model, about one-third of environment-responsive duplicates exhibit novel expression patterns, with one copy typically remaining conditionally expressed, whereas the other copy has evolved constitutive expression, highlighting exogenous factors as a major driver of gene retention. Showing uneven patterns of fractionation, with regions remaining unbiased, but with others showing high bias and significant enrichment in environment-responsive genes, this mesopolyploid genome presents evolutionary signatures consistent with an interplay of endogenous and exogenous factors having driven gene content following WGD-fractionation cycles.
- Klíčová slova
- conditionally expressed genes, dosage balance, environmental stress, subgenome dominance, transposable elements, whole-genome duplication,
- MeSH
- Brassicaceae genetika MeSH
- duplikace genu MeSH
- fyziologický stres MeSH
- genom rostlinný * MeSH
- molekulární evoluce MeSH
- regulace genové exprese u rostlin MeSH
- transpozibilní elementy DNA MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- transpozibilní elementy DNA MeSH
Model species continue to underpin groundbreaking plant science research. At the same time, the phylogenetic resolution of the land plant tree of life continues to improve. The intersection of these 2 research paths creates a unique opportunity to further extend the usefulness of model species across larger taxonomic groups. Here we promote the utility of the Arabidopsis thaliana model species, especially the ability to connect its genetic and functional resources, to species across the entire Brassicales order. We focus on the utility of using genomics and phylogenomics to bridge the evolution and diversification of several traits across the Brassicales to the resources in Arabidopsis, thereby extending scope from a model species by establishing a "model clade." These Brassicales-wide traits are discussed in the context of both the model species Arabidopsis and the family Brassicaceae. We promote the utility of such a "model clade" and make suggestions for building global networks to support future studies in the model order Brassicales.
Our results indicate the existence of interploidy gene flow in Cystopteris fragilis, resulting in sexual triploid and diploid gametophytes from pentaploid parents. Similar evolutionary dynamics might operate in other fern complexes and need further investigation. Polyploidization and hybridization are a key evolutionary processes in ferns. Here, we outline an interploidy gene flow pathway operating in the polyploid Cystopteris fragilis complex. The conditions necessary for the existence of this pathway were tested. A total of 365 C. fragilis individuals were collected covering representatives of all three predominant ploidy levels (tetraploid, pentaploid, and hexaploid), cultivated, had their ploidy level estimated by flow cytometry, and their spores collected. The spores, as well as gametophytes and sporophytes established from them, were analysed by flow cytometry. Spore abortion rate was also estimated. In tetraploids, we observed the formation of unreduced (tetraploid) spores (ca 2%). Collected pentaploid individuals indicate ongoing hybridization between ploidy levels. Pentaploids formed up to 52% viable spores, ca 79% of them reduced, i.e. diploid and triploid. Reduced spores formed viable gametophytes, and, in the case of triploids, filial hexaploid sporophytes, showing evidence of sexual reproduction. Some tetraploid sporophytes reproduce apomictically (based on uniform ploidy of their metagenesis up to filial sporophytes). Triploid and diploid gametophytes from pentaploid parents are able to mate among themselves, or with "normal" reduced gametophytes from the sexual tetraploid sporophytes (the dominant ploidy level in the sporophytes in this populations), to produce tetraploid, pentaploid, and hexaploid sporophytes, allowing for geneflow from the pentaploids to both the tetraploid and hexaploid populations. Similar evolutionary dynamics might operate in other fern complexes and need further investigation.
- Klíčová slova
- Apomixis, Cystopteris, Diplospores, Ferns, Flow cytometry, Gametophytes, Interploidy gene flow, Mixed mating, Ploidy reduction, Sporogenesis,
- Publikační typ
- časopisecké články MeSH
Polyploidization can provide a wealth of genetic variation for adaptive evolution and speciation, but understanding the mechanisms of subgenome evolution as well as its dynamics and ultimate consequences remains elusive. Here, we report the telomere-to-telomere (T2T) gap-free reference genome of allotetraploid horseradish (Armoracia rusticana) sequenced using a comprehensive strategy. The (epi)genomic architecture and 3D chromatin structure of the A and B subgenomes differ significantly, suggesting that both the dynamics of the dominant long terminal repeat retrotransposons and DNA methylation have played critical roles in subgenome diversification. Investigation of the genetic basis of biosynthesis of glucosinolates (GSLs) and horseradish peroxidases reveals both the important role of polyploidization and subgenome differentiation in shaping the key traits. Continuous duplication and divergence of essential genes of GSL biosynthesis (e.g., FMOGS-OX, IGMT, and GH1 gene family) contribute to the broad GSL profile in horseradish. Overall, the T2T assembly of the allotetraploid horseradish genome expands our understanding of polyploid genome evolution and provides a fundamental genetic resource for breeding and genetic improvement of horseradish.
Success or failure of plants to cope with freezing temperatures can critically influence plant distribution and adaptation to new habitats. Especially in alpine environments, frost is a likely major selective force driving adaptation. In Arabidopsis arenosa (L.) Lawalrée, alpine populations have evolved independently in different mountain ranges, enabling studying mechanisms of acclimation and adaptation to alpine environments. We tested for heritable, parallel differentiation in freezing resistance, cold acclimation potential and ice management strategies using eight alpine and eight foothill populations. Plants from three European mountain ranges (Niedere Tauern, Făgăraș and Tatra Mountains) were grown from seeds of tetraploid populations in four common gardens, together with diploid populations from the Tatra Mountains. Freezing resistance was assessed using controlled freezing treatments and measuring effective quantum yield of photosystem II, and ice management strategies by infrared video thermography and cryomicroscopy. The alpine ecotype had a higher cold acclimation potential than the foothill ecotype, whereby this differentiation was more pronounced in tetraploid than diploid populations. However, no ecotypic differentiation was found in one region (Făgăraș), where the ancient lineage had a different evolutionary history. Upon freezing, an ice lens within a lacuna between the palisade and spongy parenchyma tissues was formed by separation of leaf tissues, a mechanism not previously reported for herbaceous species. The dynamic adjustment of freezing resistance to temperature conditions may be particularly important in alpine environments characterized by large temperature fluctuations. Furthermore, the formation of an extracellular ice lens may be a useful strategy to avoid tissue damage during freezing.
- Klíčová slova
- Adaptation, cold acclimation, freezing resistance, ice nucleation, parallel evolution, polyploidization,
- MeSH
- aklimatizace MeSH
- Arabidopsis * genetika MeSH
- ekosystém MeSH
- fotosystém II (proteinový komplex) MeSH
- led MeSH
- rostliny MeSH
- tetraploidie MeSH
- zmrazování MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- fotosystém II (proteinový komplex) MeSH
- led MeSH
Whole-genome duplication is a common mutation in eukaryotes with far-reaching phenotypic effects. The resulting morphological, physiological and fitness consequences and how they affect the survival probability of polyploid lineages are intensively studied, but little is known about the effect of genome doubling on the evolutionary potential of populations. Historically, it has been argued polyploids should be less able to adapt because gene duplication dilutes the effects of alleles, such that polyploids are less likely to evolve new adaptive gene complexes compared with diploids. In this paper, I investigate the short- and long-term consequences of genome doubling on the additive genetic variance of populations. To do so, I extended the classical models of quantitative traits under stabilizing selection to study the evolution of the additive variance of the trait under study after a shift from diploidy to tetraploidy. I found that, for realistic allele-dosage effects, polyploidization is associated with an initial decrease in adaptive potential. In the long term, the better masking of recessive deleterious mutations associated with polyploidy compensates for the initial decrease in additive variance. The time for the tetraploid populations to reach or exceed the additive variance of their diploid progenitors is generally lower than 200 generations. These results highlight that polyploidization per se has a negligible negative effect on the adaptive potential of populations in the short term, and a substantial positive effect in the long term.
- Klíčová slova
- additive variance, evolvability, polyploidy, quantitative genetics,
- MeSH
- diploidie * MeSH
- duplikace genu MeSH
- fenotyp MeSH
- lidé MeSH
- polyploidie * MeSH
- tetraploidie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
