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Mank, J. E.

Publications and source records attributed to Mank, J. E..

At least 19 recordsLinked to original sources

Elevated isoform richness in males largely reflects transcriptional noise rather than proteomic complexity

Alternative splicing (AS) can generate multiple RNA isoforms from a single gene and is thought to contribute to phenotypic divergence, including differences between the sexes. Studies in several organisms have documented sex differences in splicing, however these have been largely reliant on short-read RNA sequencing which requires complex algorithms to assemble full-length transcripts and may underestimate both isoform diversity and sex differences in splicing. We used long-read, single molecule RNA-Seq to build a more complete catalog of sex-biased splicing in Poecilia reticulata, a focal species for studies of sexual dimorphism. Pairing long-read sequencing with isoform-level analyses, we identified a sixfold higher proportion of sex-biased splicing genes (37%) compared with short and long-read event-level approaches (6%, 11%). AS was common (70% genes) but only 54% of isoforms produced unique open-reading frames (ORFs). We found that males exhibited greater isoform richness than females in both tail and gonad tissues but produced a smaller proportion of isoforms with unique ORFs, suggesting that much of the increased isoform variation is unlikely to expand proteomic complexity and may instead reflect stochasticity during splicing rather than intentional transcriptional products intended for translation. Despite widespread AS, we found only 2.3% of genes exhibited sex-biased isoform switching, and only 52% of these switches generated distinct sex-biased ORFs. Together, our long-read data suggest that although isoform diversity is more extensive than previously appreciated, most alternative isoforms are unlikely to generate novel proteins. Instead, a relatively small number of sex-biased isoforms may disproportionately contribute to proteomic divergence between the sexes.

genomics↗

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↗

A novel downstream factor in willows replaces the ancestral sex determining gene

Sex chromosome turnover has occurred in many groups, and is mediated by the translocation or duplication of apical sex-determining genes, or the replacement of original sex determination genes by new ones. In dioecious plants, the former frequently occurs, while the latter is rarely reported. Here, we assembled four haplotype-resolved chromosome-level genomes from four lineages of the Salix polyclona complex, including three diploids (E, E-TS, and W1) and one autotetraploid (W2). Our analyses reveal that diploids have a ZW/ZZ system, while autotetraploid has a ZZZW/ZZZZ system on chromosome 15. The apical sex-determining genes of Salicaceae, ARR17-like duplicates on chromosomes 15 and 19, which can indirectly turn-on/off the expression of PISTILLATA (PI) gene and determine sex, appears to have lost the function of sex determination in the S. polyclona complex. We found a novel sex determining factor on the 15W of the complex, namely partial PI-like duplicates, which has taken over the function from the ARR17-like duplicates. In conclusion, a new dominant sex-determining gene was recruited in the S. polyclona complex, replacing the ancestral apical sex-determining ARR17-like duplicates. The newly identified partial PI-like duplicates exhibit a direct influence on the downstream intact PI-like duplications, providing valuable insights into the evolutionary trajectory of the top-down sex determination pathway.

evolutionary biology↗

Allopolyploidization from two dioecious ancestors leads to recurrent evolution of sex chromosomes and reversion to autosomes

Polyploidization presents an unusual challenge for species with sex chromosomes, as it can lead to complex combinations of sex chromosomes that disrupt reproductive development. This is particularly true for allopolyploidization between species with different sex chromosome systems. Here we assemble haplotype-resolved chromosome-level genomes of a female allotetraploid weeping willow (Salix babylonica) and a male diploid Salix dunnii using Hi-C and PacBio HiFi reads. We use phylogenomics of nuclear and plastid genomes to show that weeping willow arose from crosses between female ancestor from the Salix clade, having XY sex chromosomes on chromosome 7, with a male ancestor from the Vetrix clade, having ancestral XY sex chromosomes on chromosome 15. Our analysis reveals that weeping willow has one pair sex chromosomes, ZW on chromosome 15, that derive from the ancestral XY sex chromosomes in the Vetrix-clade male ancestor, and the X chromosomes on chromosome 7 from the Salix-clade female ancestor has reverted to an autosome. Taken together, our results point to rapid evolution and reversion of sex chromosomes following allopolyploidization in weeping willow. Significance StatementWe assembled haplotype-resolved genomes and obtained gap-free sex chromosomes of a female allotetraploid weeping willow (Salix babylonica) and a male diploid Salix dunnii. The weeping willow arose from two dioecious ancestors, that have XY sex chromosomes on chromosome 7 and 15, respectively. The one pair sex chromosomes 15W and 15Z in weeping willow derived from ancestral 15X and 15Y, respectively. Inversions contributed to the evolutions of sex-linked regions (SLRs) of diploid and polyploid willows.

evolutionary biology↗

Deep learning reveals the role of copy number variation in the genetic architecture of a highly polymorphic sexual trait

The extraordinary variation in male guppy coloration has proven a powerful model for studying the interplay of natural and sexual selection. However, this variation has hampered the high-resolution characterization and determination of the genetic architecture underlying male guppy color, as well as clouded our understanding of how this exceptional level of diversity is maintained. Here we identify the heritability and genetic basis of male color variation using convolutional neural networks for high-resolution phenotyping coupled with selection experiments, controlled pedigrees and whole-genome resequencing for a Genome Wide Association Study (GWAS) of color. Our phenotypic and genomic results converge to show that color patterning in guppies is a combination of many heritable features, each with a largely independent genetic architecture spanning the entire genome. Autosomally-inherited ornaments are polygenic, with significant contributions from loci involved in neural crest cell migration. Unusually, our GWAS results suggest that gene duplicates from the autosomes to the Y chromosome are responsible for much of the sex-linked variation in color in guppies, providing a potential mechanism for the maintenance of variation of this classic model trait.

evolutionary biology↗

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↗

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↗

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↗

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↗

A chromosome-level genome assembly of the Asian corn borer, Ostrinia furnacalis, reveals repeated origin of a Leipdopteran neo-W chromosome from the Z chromosome

We built a chromosome-level genome assembly of the Asian corn borer, Ostrinia furnacalis Guenee (Lepidoptera: Pyralidae, Pyraloidea), an economically important pest in corn, from a female, including both the Z and W chromosome. Despite deep conservation of the Z chromosome across Lepidoptera, our chromosome-level W assembly reveals little conservation with available W chromosome sequence in related species or with the Z chromosome, consistent with a non-canonical origin of the W chromosome. The W chromosome has accumulated significant repetitive elements and experienced rapid gene gain from the remainder of the genome, with most genes exhibiting pseudogenization after duplication to the W. The genes that retain significant expression are largely enriched for functions in DNA recombination, the nucleosome, chromatin and DNA binding, likely related to meiotic and mitotic processes within the female gonad.

evolutionary biology↗

Transposon wave remodelled the epigenomic landscape in the rapid evolution of a novel X chromosome dosage compensation mechanism

Sex chromosome dosage compensation is a model to understand the coordinated regulation of transcription, however the advanced age of the sex chromosomes in model systems make it difficult to study how the complex regulatory mechanisms underlying chromosome-wide dosage compensation can evolve. The sex chromosomes of Poecilia picta have undergone recent and rapid divergence, resulting in widespread gene loss on the male Y, coupled with complete X chromosome dosage compensation, the first case reported in a fish. The de novo origin of a novel dosage compensation system presents a unique opportunity to discover new mechanisms of gene regulation and their evolutionary origins. By combining a new chromosome-level assembly of P. picta with whole-genome bisulfite sequencing and RNA-Seq data, we determine that the binding motif of Yin Yang 1 (YY1) is associated with male hypomethylated regions on the X, but not the autosomes. The male-specific hypomethylation of these motifs offers a putative model for male specific upregulation of genes on the X. These YY1 motifs are the result of a recent and rapid repetitive element expansion on the P. picta X chromosome, which is absent in closely related species that lack dosage compensation. Taken together, our results present compelling support that a disruptive wave of repetitive element insertions carrying YY1 motifs resulted in the remodeling of the X chromosome epigenomic landscape and the de novo origin of a new dosage compensation mechanism.

genomics↗

Evolution of schooling propensity in the guppy drives changes in anti-predator behavior that are linked to neuroanatomy

One of the most spectacular displays of social behavior is the synchronized movements that many animal groups perform to travel, forage and escape from predators. However, elucidating the neural mechanisms underlying the evolution of collective behaviors, as well as their fitness effects, remains challenging. Here, we study anti-predator behavior in guppies experimentally selected for divergence in polarization, an important behavioral aspect of coordinated movement. We find that groups from artificially selected lines remain more polarized than control groups in the presence of a threat. Neuroanatomical measurements of polarization-selected individuals indicated changes in brain regions previously suggested to be important regulators of perception, fear and attention, and motor response. Additional visual acuity and temporal resolution tests performed in polarization-selected and control individuals indicate that observed differences in anti-predator and schooling behavior should not be attributable to changes in visual perception, but rather are more likely the result of the more efficient relay of sensory input in the brain of polarization-selected fish. Our findings highlight that brain morphology may play a fundamental role in the evolution of coordinated movement and anti-predator behavior.

evolutionary biology↗

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↗

Widespread cryptic variation in genetic architecture between the sexes

The majority of the genome is shared between the sexes, and it is expected that the genetic architecture of most traits is shared as well. This common architecture has been viewed as a major source of constraint on the evolution of sexual dimorphism (SD). SD is nonetheless common in nature, leading to assumptions that it results from differential regulation of shared genetic architecture. Here, we study the effect of thousands of gene knock-out mutations on 202 mouse phenotypes to explore how regulatory variation affects SD. We show that many traits are dimorphic to some extent, and that a surprising proportion of knock-outs have sex-specific phenotypic effects. Many traits, regardless whether they are monomorphic or dimorphic, harbor cryptic differences in genetic architecture between the sexes, resulting in sexually discordant phenotypic effects from sexually concordant regulatory changes. This provides an alternative route to dimorphism through sex-specific genetic architecture, rather than differential regulation of shared architecture.

evolutionary biology↗

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↗

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↗

Conserved sex-biased DNA methylation patterns target key developmental genes and non-recombining region of the guppy sex chromosome

Understanding the regulatory mechanisms that control sexually dimorphic gene expression is a key part of understanding the processes that govern the rate of sex chromosome evolution and phenotypic sex differences. Epigenetic modifications play a major role in tissue-specific gene expression regulation and have been hypothesized to dramatically impact the speed of sex chromosome divergence. The guppy sex chromosomes are an emerging model for studying the initial stages of divergence between the X and Y. In this study, we use comparative epigenomics to identify conserved sex-specific DNA methylation patterns in gonad and muscle tissue between the Trinidadian guppy (Poecilia reticulata) and its sister species, Endlers guppy (Poecilia wingei). We find that the oldest part of the guppy sex chromosome shows a conserved pattern of male hypomethylation, consistent with a key role in testis-specific gene expression. This pattern provides a potential mechanism for theoretical predictions that sex chromosome divergence can occur remarkably quickly in evolutionary time, and without widespread degradation of the Y chromosome gene content. Our cross-species comparative epigenomic analysis also provides a robust comparative framework to understand constraints of epigenetic programming. We observe conserved, testis-specific hypomethylated regions near key autosomal developmental genes and a potentially imprinted locus. These observations are consistent with DNA methylation in testis from other vertebrates, and suggest broad conservation of DNA methylation patterns in these regions. Our comparative framework reveals conserved DNA methylation differences between males and females across two related species, providing novel insights into the relationship between epigenetic and evolutionary processes.

genomics↗

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↗