Biology subjects

Avia, K.

Publications and source records attributed to Avia, K..

18 recordsLinked to original sources

bioRxiv2026

Genomic forecasting links climate-associated variation to spring phenology in the European wild apple, a crop wild relative of the cultivated apple

Climate-associated genomic variation is often used as a proxy for adaptive potential, yet whether it reflects adaptation with phenotypic consequences, rather than demography alone, is rarely tested in long-lived species. Genomic offsets forecast climate maladaptation from genotype-environment models but are seldom validated against phenotypes. We combined whole-genome resequencing, SNP and transposable element insertion polymorphism (TIP) variation, landscape genomics, genome-wide association, genomic offset, and common-garden phenotyping in the European wild apple (Malus sylvestris Mill.), a crop wild relative with a complex demographic history, to test this. Results: Of 148 resequenced accessions (135 wild, 13 cultivated), 89 wild individuals formed the core dataset. Population structure was associated with Last Glacial Maximum precipitation rather than contemporary climate, and genetic diversity increased from west to east. Genome-environment associations across 9.75 million SNPs identified climate-associated loci enriched in photoperiod-related flowering-time genes, with limited overlap with phenotype-associated loci. SNP-based genomic offset was associated with bud-break timing in the Saclay common garden (marginal R2 = 0.31), with higher offsets corresponding to earlier bud break, but not with growth or ecophysiological traits. This association depended on Austrian and Romanian populations and was clearest in non-admixed wild individuals. Offsets based on TIPs or glacial climate did not predict measured phenotypes. Conclusions: Climate association, phenotypic relevance, and predictive power of genomic variation are separable. In a long-lived tree, genomic offset predicted spring phenology, a key adaptive trait, but this signal varied across provenances and ancestries and was absent for transposable elements. Genomic offsets can therefore forecast potential phenological maladaptation, provided they are validated against phenotypes such as bud break.

ecology↗

bioRxiv2026

Genetic analysis of grapevine wood composition identifies glycosyltransferases involved in the biosynthesis of stilbene glycosides

Although wood extractives may play important roles in defense against pathogens, few studies have explored the genetic determinism of their accumulation. In this work, we have used a non-targeted metabolomic approach to perform a genetic analysis of grapevine (Vitis vinifera) wood extractive composition in a progeny from a cross between Riesling and Gewurztraminer. Metabolic quantitative trait loci (mQTL) analyses of cane and trunk wood extractives revealed a number of mQTLs. Analysis of one of these mQTL has led to the identification of a cluster of six UDP glycosyltransferase (UGT) genes linked to the accumulation of resveratrol-glucoside (piceid) in both canes and trunks. Detailed biochemical and structural characterization of these six UGTs highlighted a surprising functional diversity among this small gene family, as well as one UGT gene as a key determinant of the constitutive accumulation of piceid in lignified grapevine tissues. Molecular evolution analyses showed that the UGTs in this gene cluster were globally under strong purifying selection, suggesting important biological roles of the corresponding proteins. Moreover, the functional characterization showed that distinct UGT genes were involved in the biosynthesis of cis- and trans- isomers of piceid, suggesting that these isomers may play different biological roles in grapevine.

plant biology↗

bioRxiv2026

Comparison of the performance of sporophytes derived from narrow and wide genetic crosses between strains of the cultivated kelp Saccharina latissima

Seaweed mariculture allows sustainable production of large quantities of biomass for multiple downstream applications but the genotypes cultivated by this industry need to be improved to increase efficiency and cost-effectiveness. It is important that the genetic improvement of cultivated strains does not lead to the introduction of foreign genetic material into wild seaweed populations, which are already under threat from global heating. To circumvent this problem, efforts are being made to develop breeding approaches based on the use of locally-resourced genetic material. The aim of this study was to evaluate the potential effectiveness of this 'local' breeding strategy compared to a classical breeding approach based on wide genetic crosses. Analyses of growth rates and cell wall composition of F1 hybrids derived from either intra- or inter-population crosses between Saccharina latissima strains from two localities, southern Brittany, France and the Faroe Islands, did not identify any clear advantage of inter- compared to intra-population crosses. Breeding based on locally-resourced strains would therefore appear to be a valid approach for current strain selection programs. The study also established a large collection of gametophyte strains from multiple sites for future breeding programs and showed that these strains retained the capacity to become fertile after more than ten years in culture.

genetics↗

bioRxiv2026

Climate drives plasticity and genetic adaptation in apple trees

BackgroundPerennial crops respond to climate change through phenotypic plasticity and local adaptation, yet how these responses are orchestrated at the molecular level and reshaped by domestication remains poorly understood. ResultsWe grew 1,249 seedlings from five populations of M. domestica, M. orientalis, and M. sylvestris under four simulated European climates, quantified 12 phenotypic traits, performed RNA sequencing on 96 individuals, and integrated these data with previously published genome-wide polymorphism data from M. sylvestris to disentangle conserved climate responses from local adaptation. Climate was the dominant driver of phenotypic and transcriptional variation, revealing 344 conserved climate-responsive genes enriched for stress responses, nutrient metabolism, and cell wall biosynthesis. These genes are under strong purifying selection and carry fewer deleterious mutations. In contrast, genome-environment association analyses identified 217 loci associated with temperature and precipitation gradients, only a subset of which showed climate-responsive expression and elevated genomic differentiation. Population-level expression divergence closely mirrored neutral genetic differentiation, indicating that most transcriptomic divergence reflects demographic history rather than adaptive regulatory evolution. Domestication reshaped molecular diversity and mutation load without disrupting the conserved climate-response program. ConclusionsClimate responses in apple are primarily mediated by an evolutionarily conserved transcriptional program maintained by strong purifying selection, whereas local adaptation relies on largely distinct, population-specific loci. These findings reveal that conserved plasticity constitutes the dominant molecular response to climatic variation, whereas local adaptation contributes a secondary, population-specific layer of evolutionary change.

evolutionary biology↗

bioRxiv2025

Comparative assessment of genomic, phenomic, and metabolomic prediction models in biparental grapevine breeding populations

Accelerating grapevine breeding for disease resistance and climate adaptation remains constrained by long generation cycles. We benchmarked genomic (SNP), phenomic (NIRS), and metabolomic (untargeted LC-MS) prediction for 24 agronomic traits in a biparental population phenotyped over three years. Seven statistical frameworks and four tissue x timepoint combinations (wood; vineyard leaves at budbreak and flowering; greenhouse leaves at flowering) were evaluated, together with feature-wise BLUPs across samples. Cross-year and cross-population analyses with two additional populations assessed temporal robustness and transferability. Genomic prediction was most accurate (up to r = 0.83), metabolomic prediction was intermediate (up to r = 0.59), and phenomic prediction was lowest (up to r = 0.39) despite its lower acquisition cost. Metabolite features were more heritable than NIR wavelengths, for which most unexplained variation remained residual under the fitted model. Multi-omics integration produced limited overall gains. These results support genomic selection as the primary approach, with metabolomic or phenomic screening considered only for traits and sampling designs that show reproducible predictive signal.

genomics↗

bioRxiv2025

Uncovering the genetic basis of agronomic traits in over 1,000 grapevine genotypes derived from a disease resistance breeding program

Breeding disease-resistant grapevines that retain agronomic performance under variable climates requires loci and predictions that transfer across related hybrid families. We analyzed 1,081 genotypes from 95 crosses within the French INRAE-ResDur breeding program for 13 phenology, yield and berry-composition traits evaluated at five sites from 2006 to 2024. We integrated within-family QTL mapping, kinship- and population-adjusted multiple-population QTL mapping in 772 progeny, and structure-aware GWAS in 899-968 individuals, depending on the trait, together with cross-environment, cross-trait and local genomic estimated breeding-value analyses. Genetic and phenotypic differentiation among families strongly affected locus detection. Of 76 family-QTL intervals, seven, representing six trait-region hypotheses, were locally concordant across all three mapping frameworks. The strongest recurrent evidence involved a chromosome-16 region for veraison and harvest date, where a localGEBV block at 14.69 Mb ranked first for veraison and second for harvest; chromosome-14 cluster traits and chromosome-1 compactness emerged as additional validation priorities. Cross-environment meta-analysis detected no common fixed-effect association at 5% FDR but revealed extensive heterogeneous evidence. Cross-trait analysis grouped 270 significant marker tests into 54 candidate multi-trait regions, without establishing biological pleiotropy. Population-adjusted localGEBV yielded a mean leave-one-population-out correlation of 0.470 between phenotypic BLUPs and genomic scores across traits. These results distinguish compact haplotype-validation targets from background- and environment-dependent signals, supporting a staged strategy that combines marker- assisted selection for validated recurrent regions with externally validated multi-trait, multi- environment genomic prediction for polygenic traits.

genetics↗

bioRxiv2025

Gene flow from the European wild apple and selection shaped the domesticated apple (Malus domestica Borkh.) genome

How selection and demography shape genomes of long-lived crops remains largely unresolved. Using apple (Malus domestica) as a model, we integrate 218 whole genomes (68 cultivated dessert/cider; 150 wild: M. sieversii, M. orientalis, M. sylvestris), RNA-seq, and a flowering-time GWAS to resolve how these forces forged the cultivated apple genome. Despite weak neutral differentiation and widespread admixture, dessert and cider apples form distinct gene pools that derive primarily from M. sieversii-M. orientalis rather than European M. sylvestris. We find no evidence of a strong domestication bottleneck, as expected in perennials. Demography-aware selection scans reveal largely non-overlapping targets: dessert shows more hard sweeps at genes linked to fruit quality, disease resistance, and flowering, whereas cider shows proportionally more soft sweeps and balancing selection; RNA-seq differential expression supports these candidates. Wild-to-crop introgression from M. sylvestris is extensive but heterogeneous by context: some introgressed tracts concentrate in hard-sweep regions and approach fixation (consistent with rapid, targeted uptake), whereas others persist at intermediate frequencies with soft-sweep signatures (consistent with diffuse, recurrent introgression of adaptive alleles). Extending to the phenotype, the lead chromosome 9 flowering-time association lies within an introgressed segment near a transposable element and is separated from sweep peaks, consistent with regulatory/polygenic control. Cultivated apples carry a lower predicted deleterious load than wild relatives. Together, these results provide one of the most comprehensive population genomic portraits of a perennial fruit tree domestication, clarifying how selection and adaptive introgression jointly shaped the cultivated apple genome architecture and yielding actionable targets for breeding and conservation. Significance statementPerennial crops are underexplored compared to annuals, leaving open the question of how selection, gene flow, and demography shape their genomes. Using the apple tree (Malus domestica), we analyzed 218 genomes, along with expression and trait data. Despite weak genome-wide differences, dessert and cider apples form distinct gene pools. Widespread gene flow from the European wild apple supplied adaptive alleles, with contrasting dynamics: in cider, a few introgressed DNA segments rose rapidly; in dessert, many variants shifted gradually. Cultivated apples also carry a lower predicted burden of harmful mutations than wild relatives. Together, these results redefine perennial domestication and pinpoint genomic targets to accelerate breeding and conservation.

genetics↗

bioRxiv2025

Breeding for durable resistance in crops: defeated loci may act as Trojan horses compromising the effectiveness of major resistance genes.

Resistance breeding offers invaluable perspectives for environment-friendly crop protection, but its success may be limited by the breakdown of plant resistance by pathogen strains. This threat is particularly acute for perennial crops, which may be cultivated for several decades. With the increasing use of new varieties carrying multiple major resistance loci, grapevine (Vitis spp.) represents a distinctive model to investigate the broad agreement that combining several resistance genes (pyramiding) enhances both resistance efficacy and durability. To this end, grapevine progenies segregating for four resistance loci against Plasmopara viticola (Rpvs) were used to evaluate the efficiency of single and pyramided major loci when confronted to naive and Rpv-breaking pathogen strains. In the context of polygenic resistance, both undefeated and defeated Rpvs provided significant quantitative effects. However, interactions between pyramided Rpvs were either beneficial, neutral or detrimental to the level of resistance, depending on the loci combination and pathogen strain. In particular, the fact that the presence of defeated resistance loci may compromise the resistance provided by functional major loci has important implications for crops resistance breeding. Thorough phenotypic investigations of pyramiding breeding schemes emerge as a critical step for the effective and durable management of genetic resistances and plant diseases.

plant biology↗

bioRxiv2025

Impact of the introgression of resistance loci on agro-oenological traits in grapevine interspecific hybrids

O_LIA major aim in modern grapevine (Vitis vinifera L.) breeding programs is the introgression of disease resistance genes along with desired cultural and nological traits. Understanding the genetic links between resistance genes and agro-nological traits is a crucial issue for grapevine breeders. C_LIO_LIWe studied the genetic determinism of a wide range of agro-oenological traits in a complex interspecific hybrid population and identified two cases of colocalizations with disease resistance quantitative trait loci (QTL). C_LIO_LIThe species of origin of chromosomal regions in the off-springs were determined thanks to in silico chromosome painting. The linkage drag around resistance genes from primary gene pool was assessed as low due to a good recombination rate with V. vinifera. C_LIO_LIWe established that wild Vitis species are, apart from their interest in disease resistance, essential resources for improving the cultural characteristics of grapevine. C_LI

plant biology↗

bioRxiv2025

Sex chromosomes and chromosomal rearrangements are key to behavioural sexual isolation in Jaera albifrons marine isopods

The lack of sexual attraction between individuals from different populations is a direct barrier to gene flow between these populations. Here we focus on the evolution of this class of isolating mechanism, behavioural sexual isolation, through the empirical study of two closely related species of small marine isopods. The males of Jaera albifrons and J. praehirsuta similarly engage females in tactile courtship by brushing a specific region of the females back, but they do so with divergent sets of specialised setae and spines, and female choice results in strong reproductive isolation. Using bi-allelic SNP genotypes obtained from double-digest RAD sequencing of individuals from natural populations and controlled crosses, we found that secondary contacts between J. albifrons and J. praehirsuta resulted in different levels of heterospecific gene flow depending on the ecological context. Comparison of the genomic landscapes of differentiation in the two most contrasting situations (extremely low heterospecific gene flow in one region of western France, but strong introgressive hybridisation in another), combined with linkage map analyses, allowed us to conclude that genomic regions resistant to interspecies gene flow are primarily located either on the sex chromosomes or on rearranged chromosomes (several fusion-scissions and one reciprocal translocation). These genomic regions show low recombination, and in two cases QTL analyses found genetic variation associated with several male courtship traits. These results suggest that a long period of allopatry may have allowed the divergent co-evolution of male traits and female preferences, with genetic bases located at least in part in non-recombining regions on sex chromosomes and rearranged chromosomes. O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=182 SRC="FIGDIR/small/631900v4_ufig1.gif" ALT="Figure 1"> View larger version (54K): org.highwire.dtl.DTLVardef@6b7df8org.highwire.dtl.DTLVardef@11b4d00org.highwire.dtl.DTLVardef@15c760aorg.highwire.dtl.DTLVardef@1498d45_HPS_FORMAT_FIGEXP M_FIG C_FIG

evolutionary biology↗

bioRxiv2024

Evolutionary genomics of the emergence of brown algae as key components of coastal ecosystems

Brown seaweeds are keystone species of coastal ecosystems, often forming extensive underwater forests, that are under considerable threat from climate change. Despite their ecological and evolutionary importance, this phylogenetic group, which is very distantly related to animals and land plants, is still poorly characterised at the genome level. Here we analyse 60 new genomes that include species from all the major brown algal orders. Comparative analysis of these genomes indicated the occurrence of several major events coinciding approximately with the emergence of the brown algal lineage. These included marked gain of new orthologous gene families, enhanced protein domain rearrangement, horizontal gene transfer events and the acquisition of novel signalling molecules and metabolic pathways. The latter include enzymes implicated in processes emblematic of the brown algae such as biosynthesis of the alginate-based extracellular matrix, and halogen and phlorotannin biosynthesis. These early genomic innovations enabled the adaptation of brown algae to their intertidal habitats. The subsequent diversification of the brown algal orders tended to involve loss of gene families, and genomic features were identified that correlated with the emergence of differences in life cycle strategy, flagellar structure and halogen metabolism. Analysis of microevolutionary patterns within the genus Ectocarpus indicated that deep gene flow between species may be an important factor in genome evolution on more recent timescales. Finally, we show that integration of large viral genomes has had a significant impact on brown algal genome content and propose that this process has persisted throughout the evolutionary history of the lineage.

genomics↗

bioRxiv2024

Origin and evolutionary trajectories of brown algal sex chromosomes

Sex chromosomes fall into three classes: XX/XY, ZW/ZZ and U/V systems. The rise, evolution and demise of U/V systems has remained an evolutionary enigma. Here, we analyse genomes spanning the entire brown algal phylogeny to decipher their sex-determination evolutionary history. U/V sex chromosomes emerged between 450 and 224 million years ago, when a region containing the pivotal male-determinant MIN located in a discrete region in proto-U and proto-V chromosomes ceased recombining. Over time, nested inversions led to step-wise expansions of the sex locus, accompanying increasing morphological complexity and sexual differentiation of brown seaweeds. Unlike XX/XY and ZW/ZZ, brown algal U/V evolve mainly by gene gain, showing minimal degeneration. They are structurally dynamic and act as genomic cradles fostering the birth of new genes, potentially from ancestrally non coding sequences. Our analyses demonstrate that hermaphroditism arose from ancestral males that acquired U-specific genes by ectopic recombination, and that in the transition from a U/V to an XX/XY system, V-specific genes moved down the genetic hierarchy of sex determination. Both events lead to the demise of U and V and erosion of their specific genomic characteristics. Taken together, our findings offer a comprehensive model of U/V sex chromosome evolution.

evolutionary biology↗

bioRxiv2023

Discovery of a locus associated with susceptibility to esca dieback in grapevine

Esca is the most destructive and predominant grapevine trunk diseases. The chronic infections and vine mortality caused by esca syndrome lead to huge economic losses and threatens the sustainability of vineyards worldwide. Although shown as associated with the presence of wood fungi, the etiology of esca remains still unclear and putatively involves multifactorial causes, which makes the development of effective control methods challenging. As differences in esca susceptibility had already been observed among grapevine varieties, we investigated in a biparental population the presence of genetic factors that can explain theses variations. Thanks to the destructive phenotyping of a 16-year-old vineyard plot, we discovered that the Gewurztraminer variety carries on chromosome 1 a locus linked to variations in trunk necrosis associated with esca, which we have named ENS1. Our study also suggests that there is a partial link between trunk vigor and necrosis due to esca. To our best knowledge, ENS1 is the first instance of genetic factor identified as involved in the limitation of necrosis associated to grapevine esca. While the identification of ENS1 alone may not provide a complete resolution of the esca issue, this discovery represents nonetheless a first step towards a genetic solution and paves the way for broader genetic investigations in the future.

genetics↗

bioRxiv2021

Taming the massive genome of Scots pine with PiSy50k, a new genotyping array for conifer research

Scots pine (Pinus sylvestris) is the most widespread coniferous tree in the boreal forests of Eurasia and has major economic and ecological importance. However, its large and repetitive genome presents a challenge for conducting genome-wide analyses such as association studies and genomic selection. We present a new 50K SNP genotyping array for Scots pine research, breeding programs, and other applications. To select the SNP set, we first genotyped 480 Scots pine samples on a 407 540 SNP screening array, and identified 47 712 high-quality SNPs for the final array (called PiSy50k). Here, we provide details of the design and testing, as well as allele frequency estimates from the discovery panel, functional annotation, tissue-specific expression patterns, and expression level information for the SNPs or corresponding genes, when available. We validated the performance of the PiSy50k array using samples from breeding populations from Finland and Scotland. Overall, 39 678 (83.2%) SNPs showed low error rates (mean = 0.92%). Relatedness estimates based on array genotypes were consistent with the expected pedigrees, and the amount of Mendelian error was negligible. In addition, array genotypes successfully discriminate Scots pine populations from different geographic origins. The PiSy50k array will be a valuable tool for future genetic studies and forestry applications. Significance statementScots pine is an evolutionary, economically and ecologically impressive coniferous species but its gigantic genome has limited studying e.g. the genetic basis of its functional trait variation. We have developed a genotyping array that facilitates Scots pine genetic research and linking its trait variation to genetic polymorphisms and gene expression levels across the genome.

genomics↗

bioRxiv2019

Chromosome-level quality scaffolding of brown algal genomes using InstaGRAAL, a proximity ligation-based scaffolder

Hi-C has become a popular technique in recent genome assembly projects. Hi-C exploits contact frequencies between pairs of loci to bridge and order contigs in draft genomes, resulting in chromosome-level assemblies. However, application of this approach is currently hampered by a lack of robust programs that are capable of effectively treating this type of data, particularly open source programs. We developed instaGRAAL, a complete overhaul of the GRAAL program, which has adapted the latter to allow efficient assembly of large genomes. Both GRAAL, and instaGRAAL use a Markov Chain Monte Carlo algorithm to perform Hi-C scaffolding, but instaGRAAL features a number of improvements including a modular polishing approach that optionally integrates independent data. To validate the program, we used it to generate chromosome-level assemblies for two brown algae, Desmarestia herbacea and the model Ectocarpus sp., and quantified improvements compared to the initial draft for the latter. Overall, instaGRAAL is a program able to generate, using default parameters with minimal human intervention, near-complete assemblies.

genomics↗

bioRxiv2018

A key role for UV sex chromosomes in the regulation of parthenogenesis in the brown alga Ectocarpus

AO_SCPLOWBSTRACTC_SCPLOWAlthough evolutionary transitions from sexual to asexual reproduction are frequent in eukaryotes, the genetic bases of these shifts remain largely elusive. Here, we used classic quantitative trait analysis, combined with genomic and transcriptomic information to dissect the genetic basis of asexual, parthenogenetic reproduction in the brown alga Ectocarpus. We found that parthenogenesis is controlled by the sex locus, together with two additional autosomal loci, highlight the key role of the sex chromosome as a major regulator of asexual reproduction. Importantly, we identify several negative effects of parthenogenesis on male fitness, but also different fitness effects between parthenogenesis and life cycle generations, supporting the idea that parthenogenesis may be under both sexual selection and generation/ploidally-antagonistic selection. Overall, our data provide the first empirical illustration, to our knowledge, of a trade-off between the haploid and diploid stages of the life cycle, where distinct parthenogenesis alleles have opposing effects on sexual and asexual reproduction and may contribute to the maintenance of genetic variation. These types of fitness trade-offs have profound evolutionary implications in natural populations and may structure life history evolution in organisms with haploid-diploid life cycles.

evolutionary biology↗

bioRxiv2018

Convergent recruitment of life cycle regulators to direct sporophyte development in two eukaryotic supergroups

Three amino acid loop extension homeodomain transcription factors (TALE HD TFs) act as life cycle regulators in green algae and land plants. In mosses these regulators are required for the deployment of the sporophyte developmental program. We demonstrate that mutations in either of two TALE HD TF genes, OUROBOROS or SAMSARA, in the brown alga Ectocarpus result in conversion of the sporophyte generation into a gametophyte. The OUROBOROS and SAMSARA proteins heterodimerise in a similar manner to TALE HD TF life cycle regulators in the green lineage. These observations demonstrate that TALE-HD-TF-based life cycle regulation systems have an extremely ancient origin, and that these systems have been independently recruited to regulate sporophyte developmental programs in at least two different complex multicellular eukaryotic supergroups, Archaeplastida and Chromalveolata.

plant biology↗

bioRxiv2018

The genome of Ectocarpus subulatus highlights unique mechanisms for stress tolerance in brown algae

Brown algae are multicellular photosynthetic stramenopiles that colonize marine rocky shores worldwide. Ectocarpus sp. Ec32 has been established as a genomic model for brown algae. Here we present the genome and metabolic network of the closely related species, Ectocarpus subulatus Kutzing, which is characterized by high abiotic stress tolerance. Since their separation, both strains show new traces of viral sequences and the activity of large retrotransposons, which may also be related to the expansion of a family of chlorophyll-binding proteins. Further features suspected to contribute to stress tolerance include an expanded family of heat shock proteins, the reduction of genes involved in the production of halogenated defence compounds, and the presence of fewer cell wall polysaccharide-modifying enzymes. Overall, E. subulatus has mainly lost members of gene families down-regulated in low salinities, and conserved those that were up-regulated in the same condition. However, 96% of genes that differed between the two examined Ectocarpus species, as well as all genes under positive selection, were found to encode proteins of unknown function. This underlines the uniqueness of brown algal stress tolerance mechanisms as well as the significance of establishing E. subulatus as a comparative model for future functional studies.

genomics↗