Biology subjects

Darolti, I.

Publications and source records attributed to Darolti, I..

14 recordsLinked to original sources

bioRxiv2026

Alternative splicing shapes sexual dimorphism and erodes following the loss of sex in stick insects

Sexually dimorphic traits emerge from divergent selective pressures acting on males and females and are facilitated by gene regulatory mechanisms. While gene expression differences have been the subject of considerable focus in the evolution of sexual dimorphism, other regulatory processes remain comparatively understudied. One such mechanism is alternative splicing, whereby a single gene can encode multiple distinct transcripts, which can lead to functional diversification of the proteome. Leveraging long-read PacBio Iso-sequencing, we examine patterns of sex differences in gene expression and alternative splicing under different selection regimes. Alternative splicing is widespread in Timema, with the greatest isoform complexity found in the male gonad tissue. We observe similar rates of sex differences in gene expression and splicing, and a core set of genes involved in sexual differentiation and germline development that have conserved differential splicing patterns across the Timema phylogeny. Beyond this, however, differentially spliced genes undergo faster lineage-specific turnover and are subject to greater pleiotropic and purifying constraints than differentially expressed genes. Following the transition from sexual reproduction to asexuality, there is a systematic reduction in isoform diversity and erosion of sex-specific splicing variation. Taken together, our findings suggest a role for sexual selection in maintaining splicing complexity in sexual Timema species.

evolutionary biology↗

bioRxiv2025

Genome Report: Genome of the Amazon Guppy (Poecilia bifurca) reveals conservation of sex chromosomes and dosage compensation

The Amazon guppy, Poecilia bifurca, is a small live-bearing fish. Closely related species, such as P. reticulata, P. picta, and P. parae all share the same sex chromosome system, but with substantial diversity in the degree of Y degeneration and the extent of X chromosome dosage compensation. We built a female (XX) draft genome with 55X coverage of PacBio HiFi data, resulting in a 785 Mb assembly with 94.4% BUSCO completeness. Using this genome, we found that P. bifurca shares the same sex chromosomes as related species and shows substantial Y chromosome degeneration. We combined this with RNA-Seq data and find similar expression of X-linked genes between sexes, revealing that P. bifurca also exhibits complete X chromosome dosage compensation. We further identify 11 putative autosome-to-Y gene duplications, five of which show gene expression in guppy male germ cells.

genomics↗

bioRxiv2023

Extensive variation in germline de novo mutations in Poecilia reticulata

The rate of germline mutation is fundamental to evolutionary processes, as it generates the variation upon which selection acts. The guppy, Poecilia reticulata, is a model of rapid adaptation, however the relative contribution of standing genetic variation versus de novo mutation to evolution in this species remains unclear. Here, we use pedigree-based approaches to quantify and characterize de novo mutations (DNMs) in three large guppy families. Our results suggest germline mutation rate in the guppy varies substantially across individuals and families. Most DNMs are shared across multiple siblings, suggesting they arose during early zygotic development. DNMs are randomly distributed throughout the genome, and male-biased mutation rate is low, as would be expected from the short guppy generation time. Overall, our study demonstrates remarkable variation in germline mutation rate and provides insights into rapid evolution of guppies.

evolutionary biology↗

bioRxiv2023

Functional convergence of genomic and transcriptomic genetic architecture underlying sociability in a live-bearing fish

The organization and coordination of fish schools provide a valuable model to investigate the genetic architecture of affiliative behaviors and dissect the mechanisms underlying social behaviors and personalities. We used quantitative genetic methods in replicate guppy selection lines that vary in schooling propensity to investigate the genetic basis of sociability phenotypes. Alignment and attraction, the two major traits forming the sociability personality axis in this species, showed heritability estimates at the upper end of the range previously described for social behaviors, with important variation across sexes. Consistent with findings in collective motion patterns, experimental evolution of schooling propensity increases the sociability of female, but not male, guppies when swimming with unfamiliar conspecifics, a highly relevant trait in a species with fission-fusion social systems in natural populations. Our results from PoolSeq and RNASeq convergently identify genes involved in neuron migration and synaptic function, highlighting a crucial role of glutamatergic synaptic function and calcium-dependent signaling processes in the evolution of schooling.

evolutionary biology↗

bioRxiv2023

Experience with mating receptivity cues affects sexual behaviour of male guppies, but not their strength of preference towards receptive females

Females are traditionally presented as the choosier sex, selecting males based on the quality of their traits. Yet, there is increasing evidence that male mate choice is also important, even in species without male parental care. Social environment and learning are key factors in determining mate preference, and animals are able to use the information they gather from previous experience to potentially increase their odds of obtaining a high-quality mate. We examined how the social environment affects male mate choice in the guppy (Poecilia reticulata). We evaluated whether male guppies with previous social experience of female receptivity cues learn to prefer and adapt their behavioural repertoire towards females with higher receptiveness levels, as this represents an optimal use of time and energy and is more likely to result in insemination. For this, we measured sexual preference and behaviour for receptive females in no-choice and dichotomous choice tests using guppy males experienced or naive to female receptivity cues. Experience with receptivity cues did not change the strength of preference towards receptive females. However, male guppies that had previous experience with female receptivity cues adapted their mating tactic compared to naive males. The change in mating tactics but lack of preference towards receptive females shows that the influence of social learning is present but might be weaker than predicted in this species. Furthermore, these results provide further support to studies of female mate choice suggesting mating status is not a key factor driving the strength of sexual preferences in natural populations.

animal behavior and cognition↗

bioRxiv2022

Sex-biased gene expression at single-cell resolution: Cause and consequence of sexual dimorphism

Gene expression differences between males and females are thought to be key for the evolution of sexual dimorphism, and sex-biased genes are often used to study the molecular footprint of sex-specific selection. However, gene expression is often measured from complex aggregations of diverse cell types, making it difficult to distinguish between sex differences in expression that are due to regulatory rewiring within similar cell types and those that are simply a consequence of developmental differences in cell type abundance. To determine the role of regulatory versus developmental differences underlying sex-biased gene expression, we use single-cell transcriptomic data from multiple somatic and reproductive tissues of male and female guppies, a species which exhibits extensive phenotypic sexual dimorphism. Our analysis of gene expression at single-cell resolution demonstrates that non-isometric scaling between the cell populations within each tissue and heterogeneity in cell type abundance between the sexes can influence inferred patterns of sex-biased gene expression by increasing both the false-positive and false-negative rates. Moreover, we show that at the bulk level, the subset of sex-biased genes that are the product of sex differences in cell type abundance can significantly confound patterns of coding-sequence evolution. Taken together, our results offer a unique insight into the evolution of sex-biased gene expression and highlight the power of single-cell RNA-sequencing in disentangling between genes that are a cause as opposed to a consequence of sexual dimorphism.

evolutionary biology↗

bioRxiv2021

A comparison of methodological approaches to the study of young sex chromosomes: A case study in Poecilia

Studies of sex chromosome systems at early stages of divergence are key to understanding the initial process and underlying causes of recombination suppression. However, identifying signatures of divergence in homomorphic sex chromosomes can be challenging due to high levels of sequence similarity between the X and the Y. Variations in methodological precision and underlying data can make all the difference between detecting subtle divergence patterns or missing them entirely. Recent efforts to test for X-Y sequence differentiation in the guppy have led to contradictory results. Here we apply different analytical methodologies to the same dataset to test for the accuracy of different approaches in identifying patterns of sex chromosome divergence in the guppy. Our comparative analysis reveals that the most substantial source of variation in the results of the different analyses lies in the reference genome used. Analyses using custom-made de novo genome assemblies for the focal species successfully recover a signal of divergence across different methodological approaches. By contrast, using the distantly related Xiphophorus reference genome results in variable patterns, due to both sequence evolution and structural variations on the sex chromosomes between the guppy and Xiphophorus. Changes in mapping and filtering parameters can additionally introduce noise and obscure the signal. Our results illustrate how analytical differences can alter perceived results and we highlight best practices for the study of nascent sex chromosomes.

genomics↗

bioRxiv2021

Sex Chromosome Heteromorphism and the Fast-X Effect in Poeciliids

Accelerated rates of sequence evolution on the X chromosome compared to autosomes, known as Fast-X evolution, have been observed in a range of heteromorphic sex chromosomes. However, it remains unclear how early in the process of sex chromosome differentiation the Fast-X effect becomes detectible. Recently, we uncovered an extreme variation in sex chromosome heteromorphism across Poeciliid fish species. The common guppy, Poecilia reticulata, Endlers guppy, P. wingei, swamp guppy, P. picta, and para guppy, P. parae, appear to share the same XY system and exhibit a remarkable range of heteromorphism. This sex chromosome system is absent in recent outgroups. We combined analyses of sequence divergence and polymorphism data across Poeciliids to investigate X chromosome evolution as a function of hemizygosity and reveal the causes for Fast-X effects. Consistent with the extent of Y degeneration in each species, we detect higher rates of divergence on the X relative to autosomes, a signal of Fast-X evolution, in P. picta and P. parae, while no change in the rate of evolution of X-linked relative to autosomal genes in P. reticulata. In P. wingei, the species with intermediate sex chromosome differentiation, we see an increase in the rate of nonsynonymous substitutions on the older stratum of divergence only. We also use our comparative approach to test different models for the origin of the sex chromosomes in this clade. Taken together, our study reveals an important role of hemizygosity in Fast-X and suggests a single, recent origin of the sex chromosome system in this clade.

evolutionary biology↗

bioRxiv2021

Sexual Conflict Over Survival In Trinidadian Guppies

Differences in allele frequencies at autosomal genes between males and females in a population can result from two scenarios. Unresolved sexual conflict over survival produces allelic differentiation between the sexes. However, given the substantial mortality costs required to produce allelic differences between males and females at each generation, it remains unclear how many loci within the genome experience significant sexual conflict over survival. Alternatively, recent studies have shown that similarity between autosomal and Y sequence, arising from duplication onto the Y, can create perceived allelic differences, and this represents potentially resolved sexual conflict. However, Y duplications are most likely in species with large non-recombining regions, in part because they simply represent larger targets for duplications. We assessed the genomes of 120 wild-caught guppies, which experience extensive predation- and pathogen-induced mortality and have a relatively small ancestral Y chromosome. We identified seven autosomal genes that show allelic differences between male and female adults. Five of these genes show clear evidence of whole or partial gene duplication to the Y chromosome, suggesting that the male-specific region of the guppy Y chromosome, although relatively small, may nonetheless act as a hotspot for the resolution of sexual conflict. The remaining two genes show evidence of partial homology to the Y. Overall, our findings suggest that the guppy genome experiences a very low level of unresolved sexual conflict over survival, and instead the Y chromosome, despite its small ancestral size and recent origin, acts as a major mechanism of conflict resolution.

evolutionary biology↗

bioRxiv2021

Rapid evolution of complete dosage compensation in Poecilia

Dosage compensation balances gene expression between the sexes in systems with diverged heterogametic sex chromosomes. Theory predicts that dosage compensation should rapidly evolve in parallel with the divergence of sex chromosomes to prevent the deleterious effects of dosage imbalances that occur as a result of sex chromosome divergence. Examples of complete dosage compensation, where gene expression of the entire sex chromosome is compensated, are rare and have only been found in relatively ancient sex chromosome systems. Consequently, very little is known about the evolutionary dynamics of complete dosage compensation systems. We recently found the first example of complete dosage compensation in a fish, Poecilia picta. We also found that the Y chromosome degraded substantially in the common ancestor of P. picta and their close relative Poecilia parae. In this study we find that P. parae also have complete dosage compensation, thus complete dosage compensation likely evolved in the short ([~]3.7 my) interval after the split of the ancestor of these two species from P. reticulata, but before they diverged from each other. These data suggest that novel dosage compensation mechanisms can evolve rapidly, thus supporting the longstanding theoretical prediction that such mechanisms arise in parallel with rapidly diverging sex chromosomes. SIGNIFICANCE STATEMENTIn species with XY sex chromosomes, females (XX) have as many copies of X-linked genes compared to males (XY), leading to unbalanced expression between the sexes. Theory predicts that dosage compensation mechanisms should evolve rapidly as X and Y chromosomes diverge, but examples of complete dosage compensation in recently diverged sex chromosomes are scarce, making this theory difficult to test. Across Poeciliid species the X and Y chromosomes have recently diversified. Here we find complete dosage compensation evolved rapidly as the X and Y diverged in the common ancestor of Poecilia parae and P. picta, supporting that novel dosage compensation mechanisms can evolve rapidly in tandem with diverging sex chromosomes. These data confirm longstanding theoretical predictions of sex chromosome evolution.

evolutionary biology↗

bioRxiv2020

Extreme Y chromosome polymorphism corresponds to five male reproductive morphs

Sex chromosomes form once recombination is halted between the X and Y chromosomes. This loss of recombination quickly depletes Y chromosomes of functional content and genetic variation, which is thought to severely limit their potential to generate adaptive diversity. We examined Y diversity in Poecilia parae, where males occur as one of five discrete morphs, all of which shoal together in natural populations where morph frequency has been stable for over 50 years. Each morph utilizes different complex reproductive strategies, and differ dramatically from each other in color, body size, and mating behavior. Remarkably, morph phenotype is passed perfectly from father to son, indicating there are five Y haplotypes segregating in the species, each of which encodes the complex male morph characteristics. Using linked-read sequencing on multiple P. parae females and males of all five morphs from natural populations, we found that the genetic architecture of the male morphs evolved on the Y chromosome long after recombination suppression had occurred with the X. Comparing Y chromosomes between each of the morphs revealed that although the Ys of the three minor morphs that differ predominantly in color are highly similar, there are substantial amounts of unique genetic material and divergence between the Ys of the three major morphs that differ in reproductive strategy, body size and mating behavior. Taken together, our results reveal the extraordinary ability of evolution to overcome the constraints of recombination loss to generate extreme diversity resulting in five discrete Y chromosomes that control complex reproductive strategies. Significance StatementThe loss of recombination on the Y chromosome is thought to limit the adaptive potential of this unique genomic region. Despite this, we describe an extraordinary case of Y chromosome adaptation in Poecilia parae. This species contains five co-occurring male morphs, all of which are Y-linked, and which differ in reproductive strategy, body size, coloration, and mating behavior. The five Y-linked male morphs of P. parae evolved after recombination was halted on the Y, resulting in five unique Y chromosomes within one species. Our results reveal the surprising magnitude to which non-recombining regions can generate adaptive diversity and have important implications for the evolution of sex chromosomes and the genetic control of sex-linked diversity.

genomics↗

bioRxiv2020

HIGH-RESOLUTION CHARACTERIZATION REEVALUATES SEX LINKAGE OF ORNAMENTATION IN GUPPIES

Colouration plays a key role in the ecology of many species, influencing how an organism interacts with its environment, other species and conspecifics. Guppies are sexually dimorphic, with males displaying sexually selected colouration resulting from female preference. Previous work has suggested that much of guppy colour pattern variation is Y-linked. However, it remains unclear how many individual colour patterns are Y-linked in natural populations as much of the previous work has focused on phenotypes either not found in the wild, or aggregate measures such as total colour area. Moreover, ornaments have traditionally been identified and delineated by hand, and computational methods now make it possible to extract pixels and identify ornaments more automatedly, reducing the potential for human bias. Here we developed a pipeline for automated ornament identification and high-resolution image analysis of male guppy colour patterns and applied it to a multigenerational pedigree. Our results show that loci controlling the presence or absence of individual male ornaments in our population are not predominantly Y-linked. However, we find that ornaments of similar colour are not independent of each other, and modifier loci that affect whole animal colouration appear to be at least partially Y-linked. Considering these results, Y-linkage of individual ornaments may not be important in driving colour changes in natural populations of guppies, or in expansions of the non-recombining Y region, while Y-linked modifier loci that affect aggregate traits may well play an important role.

evolutionary biology↗

bioRxiv2020

Divergence and Remarkable Diversity of the Y Chromosome in Guppies

The guppy sex chromosomes show an extraordinary diversity in divergence across populations and closely related species. In order to understand the dynamics of the guppy Y chromosome, we used linked-read sequencing to assess Y chromosome evolution and diversity across upstream and downstream population pairs that vary in predator and food abundance in three replicate watersheds. Based on our population-specific genome assemblies, we first confirmed and extended earlier reports of two strata on the guppy sex chromosomes. Stratum I shows significant accumulation of male-specific sequence, consistent with Y divergence, and predates the colonization of Trinidad. In contrast, Stratum II shows divergence from the X, but no Y-specific sequence, and this divergence is greater in three replicate upstream populations compared to their downstream pair. Despite longstanding assumptions that sex chromosome recombination suppression is achieved through inversions, we find no evidence of inversions associated with either Stratum I or Stratum II. Instead, we observe a remarkable diversity in Y chromosome haplotypes within each population, even in the ancestral Stratum I. This diversity is likely due to gradual mechanisms of recombination suppression, which, unlike an inversion, allow for the maintenance of multiple haplotypes. In addition, we show that this Y diversity is dominated by low-frequency haplotypes segregating in the population, suggesting a link between haplotype diversity and female-preference for rare Y-linked colour variation. Our results reveal the complex interplay between recombination suppression and Y chromosome divergence at the earliest stages of sex chromosome divergence.

evolutionary biology↗

bioRxiv2019

Extreme heterogeneity in sex chromosome differentiation and dosage compensation in livebearers

Once recombination is halted between the X and Y chromosome, sex chromosomes begin to differentiate and transition to heteromorphism. While there is a remarkable variation across clades in the degree of sex chromosome divergence, far less is known about variation in sex chromosome differentiation within clades. Here, we combined whole genome and transcriptome sequencing data to characterise the structure and conservation of sex chromosome systems across Poeciliidae, the livebearing clade that includes guppies. We found that the Poecilia reticulata XY system is much older than previously thought, being shared not only with its sister species, Poecilia wingei, but also with Poecilia picta, which diverged 30 mya. Despite the shared ancestry, we uncovered an extreme heterogeneity across these species in the proportion of the sex chromosome with suppressed recombination, and the degree of Y chromosome decay. The sex chromosomes in P. reticulata are largely homomorphic, with recombination persisting over a substantial fraction. However, the sex chromosomes in P. picta are completely non-recombining and strikingly heteromorphic. ln addition to being highly divergent, the sex chromosome system in P. picta includes a neo-sex chromosome, the result of a fusion between the ancestral sex chromosome and part of chromosome 7. Remarkably, the profound degradation of the ancestral Y chromosome in P. picta is counterbalanced by the evolution of complete dosage compensation in this species, the first such documented case in teleost fish. Our results offer important insight into the initial stages of sex chromosome evolution and dosage compensation.

evolutionary biology↗