Search bioRxiv⌕ Search

Biology subjects

Ghiselli, F.

Publications and source records attributed to Ghiselli, F..

4 recordsLinked to original sources

Transposable element activity and polymorphisms drive structural variability within and between individual in bivalves

Structural variants (SVs) represent one of the most abundant sources of genetic variation across eukaryotes, with transposable elements (TEs) standing out as primary contributors in their emergence. While the growing availability of chromosome-scale genomes has revealed the central role of SVs in species diversification and adaptation, non-model invertebrates remain critically understudied in this context. Here, we explore how SVs and their interaction with TEs shape genetic diversity at both the individual and population levels. To achieve this, we leverage four high-quality oyster genomes and a large-scale dataset of the Estuarine oyster (Crassostrea ariakensis) collected across a wide range of different temperature and salinity conditions. We explicitly account for strengths and limitations of current SV-calling software, and benchmark our results through simulations. We uncover pervasive within-individual structural variability, with up to 14% of oyster genome basepairs being in an hemizygous state. The strong enrichment of TEs within these SVs is driven by a prevalence of insertions over deletions, reflecting population-level TE activity. Strikingly, both SVs and de novo TE insertions -- driven by the concurrent mobilization of diverse TE families -- segregate among C. ariakensis populations and contribute to genomic differentiation associated with local adaptation to contrasting sea salinity and temperature levels. Our study demonstrates the power of integrating long- and short-read sequencing to recover a high-confidence catalogue of SVs and de novo TE insertions, and provides empirical evidence that structural variation is an active evolutionary force generating potentially adaptive genetic variation in a key lineage of ecologically and economically important bivalves.

evolutionary biology↗

Exploring the evolution of sex determination related genes through a cross-species genomics analysis

The molecular basis of sex determination (SD), while being extensively studied in model organisms, remains poorly understood in many animal groups. Bivalves, a diverse class of molluscs with a variety of reproductive modes, represent an ideal yet challenging clade for investigating SD and the evolution of sexual systems. However, the absence of a comprehensive framework has limited progress in this field, particularly regarding the study of sex-determination related genes (SRGs). In this study, we performed a genome-wide sequence evolutionary analysis of the Dmrt, Sox, and Fox gene families in more than 40 bivalve species. For the first time, we provide an extensive and phylogenetic-aware dataset of these SRGs, and we find support to the hypothesis that Dmrt-1L and Sox-H may act as primary sex-determining genes, by showing their high levels of sequence diversity within the bivalve genomic context. To validate our findings, we studied the same gene families in two well-characterized systems, mammals and Drosophila. In the former, we found that the male sex-determining gene Sry exhibits a pattern of amino acid sequence diversity similar to that of Dmrt-1L and Sox-H in bivalves, consistent with its role of master SD regulator. In contrast, no such pattern was observed among genes of the fruit fly SD cascade, which is controlled by a chromosomic mechanism. Overall, our findings highlight similarities in the sequence evolution of some mammal and bivalve SRGs, possibly driven by a comparable architecture of SD cascades. This work underscores once again the importance of employing a comparative approach when investigating understudied and non-model systems.

evolutionary biology↗

The high quality Chinese white truffle genome and novel fossil-calibrated estimate of Pezizomycetes divergence reveal the tempo and mode of true truffles genome evolution

The genus Tuber (family: Tuberaceae) includes the most economically valuable ectomycorrhizal (ECM), truffle-forming fungi. Previous genomic analyses revealed that massive transposable element (TE) proliferation represents a convergent genomic feature of mycorrhizal fungi, including Tuberaceae. Repetitive sequences are one of the major drivers of genome evolution shaping its architecture and regulatory networks. In this context, Tuberaceae represent an important model system to study their genomic impact; however, the family lacks high-quality assemblies. Here, we tested the interplay between TEs and Tuberaceae genome evolution by producing a highly contiguous assembly for the endangered Chinese truffle Tuber panzhihuanense, along with a novel timeline for Tuberaceae diversification and comprehensive comparative genomic analyses. We found that concurrently with a Paleogene diversification of the family, pre-existing Chromoviridae-related Gypsy clades independently expand in different truffle lineages leading to increased genome size and high gene family turnover rates, but without resulting in highly scrambled genomes. Additionally, we found an enrichment of ECM-induced gene families among ancestral duplication events. Finally, we explored the repetitive structure of nuclear ribosomal DNA (rDNA) loci for the first time in the clade. We found that most of the 45S rDNA paralogues are undergoing concerted evolution, though an isolated divergent locus raises concerns about potential issues for metabarcoding and biodiversity assessments. Our study provides a fundamental genomic resource for future research on truffle genomics and showcases a clear example on how establishment and self-perpetuating expansion of heterochromatin can drive massive genome size variation due to activity of selfish genetic elements.

evolutionary biology↗

Hybrid de novo assembly of the draft genome of the freshwater mussel Venustaconcha ellipsiformis (Bivalvia: Unionida).

Freshwater mussels (Bivalvia: Unionida) serve an important role as aquatic ecosystem engineers but are one of the most critically imperilled groups of animals. Here, we used a combination of sequencing strategies to assemble and annotate a draft genome of Venustaconcha ellipsiformis, which will serve as a valuable genomic resource given the ecological value and unique \"doubly uniparental inheritance\" mode of mitochondrial DNA transmission of freshwater mussels. The genome described here was obtained by combining high coverage short reads (65X genome coverage of Illumina paired-end and 11X genome coverage of mate-pairs sequences) with low coverage Pacific Biosciences long reads (0.3X genome coverage). Briefly, the final scaffold assembly accounted for a total size of 1.54Gb (366,926 scaffolds, N50 = 6.5Kb, with 2.3% of \"N\" nucleotides), representing 86% of the predicted genome size of 1.80Gb, while over one third of the genome (37.5%) consisted of repeated elements and more than 85% of the core eukaryotic genes were recovered. Given the repeated genetic bottlenecks of V. ellipsiformis populations as a result of glaciations events, heterozygosity was also found to be remarkably low (0.6%), in contrast to most other sequenced bivalve species. Finally, we reassembled the full mitochondrial genome and found six polymorphic sites with respect to the previously published reference. This resource opens the way to comparative genomics studies to identify genes related to the unique adaptations of freshwater mussels and their distinctive mitochondrial inheritance mechanism.

genomics↗