scholarly journals Gene-rich UV sex chromosomes harbor conserved regulators of sexual development

2021 ◽  
Vol 7 (27) ◽  
pp. eabh2488
Author(s):  
Sarah B. Carey ◽  
Jerry Jenkins ◽  
John T. Lovell ◽  
Florian Maumus ◽  
Avinash Sreedasyam ◽  
...  
Keyword(s):  
Transposable Elements ◽  
Sex Chromosomes ◽  
Sexual Development ◽  
Population Genetic ◽  
Purifying Selection ◽  
Land Plants ◽  
Ceratodon Purpureus ◽  
Suppressed Recombination ◽  
Reference Genomes

Nonrecombining sex chromosomes, like the mammalian Y, often lose genes and accumulate transposable elements, a process termed degeneration. The correlation between suppressed recombination and degeneration is clear in animal XY systems, but the absence of recombination is confounded with other asymmetries between the X and Y. In contrast, UV sex chromosomes, like those found in bryophytes, experience symmetrical population genetic conditions. Here, we generate nearly gapless female and male chromosome-scale reference genomes of the moss Ceratodon purpureus to test for degeneration in the bryophyte UV sex chromosomes. We show that the moss sex chromosomes evolved over 300 million years ago and expanded via two chromosomal fusions. Although the sex chromosomes exhibit weaker purifying selection than autosomes, we find that suppressed recombination alone is insufficient to drive degeneration. Instead, the U and V sex chromosomes harbor thousands of broadly expressed genes, including numerous key regulators of sexual development across land plants.

scholarly journals Chromosome fusions shape an ancient UV sex chromosome system

2020 ◽  
Author(s):  
Sarah B. Carey ◽  
Jerry Jenkins ◽  
Adam C. Payton ◽  
Shenqiang Shu ◽  
John T. Lovell ◽  
...  
Keyword(s):  
Gene Regulatory Networks ◽  
Sex Chromosomes ◽  
Regulatory Networks ◽  
Sex Chromosome ◽  
Structural Complexity ◽  
Sex Chromosome System ◽  
Chromosome Fusions ◽  
Gene Regulatory ◽  
Suppressed Recombination ◽  
Reference Genomes

AbstractSex chromosomes occur in diverse organisms, but their structural complexity has often prevented evolutionary analyses. Here we use two chromosome-scale reference genomes of the moss Ceratodon purpureus to trace the evolution of the sex chromosomes in bryophytes. Comparative analyses show the moss genome comprises seven remarkably stable ancestral chromosomal elements. An exception is the sex chromosomes, which share thousands of broadly-expressed genes but lack any synteny. We show the sex chromosomes evolved over 300 million years ago and expanded via at least two distinct chromosomal fusions. These results link suppressed recombination between the sex chromosomes with rapid structural change and the evolution of distinct transposable element compositions, and suggest haploid gene expression promotes the evolution of independent female and male gene-regulatory networks.One Sentence SummaryMoss sex chromosomes retain thousands of broadly-expressed genes despite millions of years of suppressed recombination.

scholarly journals The evolution of suppressed recombination between sex chromosomes by chromosomal inversions

2020 ◽  
Author(s):  
Colin Olito ◽  
Jessica K. Abbott
Keyword(s):  
Sex Chromosomes ◽  
Population Genetic ◽  
Fixation Probability ◽  
Sexual Antagonism ◽  
Recombination Suppression ◽  
Position Effects ◽  
Chromosomal Inversions ◽  
Alternative Hypotheses ◽  
Suppressed Recombination ◽  
Unique Signature

AbstractThe idea that sex-differences in selection drive the evolution of suppressed recombination between sex chromosomes is well-developed in population genetics. Yet, despite a now classic body of theory, empirical evidence that sexual antagonism drives the evolution of recombination suppression remains meagre and alternative hypotheses underdeveloped. We investigate whether the length of ‘evolutionary strata’ formed by chromosomal inversions that expand the non-recombining sex determining region (SDR) on recombining sex chromosomes can offer an informative signature of whether, and how, selection influenced their fixation. We develop population genetic models that determine how the length of a chromosomal inversion that expands the SDR affects its fixation probability for three categories of inversions: (i) neutral, (ii) directly beneficial (i.e., due to breakpoint or position effects), and (iii) indirectly beneficial (especially those capturing sexually antagonistic loci). Our models predict that neutral inversions should leave behind a unique signature of large evolutionary strata, and that it will often be difficult or impossible to distinguish between smaller strata created by directly or indirectly beneficial inversions. An interesting and unexpected prediction of our models is that the physical location of the ancestral SDR on the sex chromosomes is the most important factor influencing the relation between inversion size and the probability of expanding the SDR. Our findings raise a suite of new questions about how physical as well as selective processes influence the evolution of recombination suppression between sex chromosomes.

Evolutionary rewiring of the wheat transcriptional regulatory network by lineage-specific transposable elements

2021 ◽  
pp. gr.275658.121
Author(s):  
Yuyun Zhang ◽  
Zijuan Li ◽  
Yu'e Zhang ◽  
Kande Lin ◽  
Yuan Peng ◽  
...  
Keyword(s):  
Transposable Elements ◽  
Genome Evolution ◽  
Regulatory Networks ◽  
Transcriptional Regulatory Network ◽  
Sequence Similarity ◽  
Purifying Selection ◽  
Wheat Genome ◽  
Specific Gene ◽  
High Sequence Similarity ◽  
Wheat Genome Evolution

More than 80% of the wheat genome consists of transposable elements (TEs), which act as one major driver of wheat genome evolution. However, their contributions to the regulatory evolution of wheat adaptations remain largely unclear. Here, we created genome-binding maps for 53 transcription factors (TFs) underlying environmental responses by leveraging DAP-seq in Triticum urartu, together with epigenomic profiles. Most TF-binding sites (TFBS) located distally from genes are embedded in TEs, whose functional relevance is supported by purifying selection and active epigenomic features. About 24% of the non-TE TFBS share significantly high sequence similarity with TE-embedded TFBS. These non-TE TFBS have almost no homologous sequences in non-Triticeae species and are potentially derived from Triticeae-specific TEs. The expansion of TE-derived TFBS linked to wheat-specific gene responses, suggesting TEs are an important driving force for regulatory innovations. Altogether, TEs have been significantly and continuously shaping regulatory networks related to wheat genome evolution and adaptation.

scholarly journals INDEPENDENT STRATUM FORMATION ON THE AVIAN SEX CHROMOSOMES REVEALS INTER-CHROMOSOMAL GENE CONVERSION AND PREDOMINANCE OF PURIFYING SELECTION ON THE W CHROMOSOME

Evolution ◽  
2014 ◽  
Vol 68 (11) ◽  
pp. 3281-3295 ◽  
Author(s):  
Alison E. Wright ◽  
Peter W. Harrison ◽  
Stephen H. Montgomery ◽  
Marie A. Pointer ◽  
Judith E. Mank
Keyword(s):  
Gene Conversion ◽  
Sex Chromosomes ◽  
Purifying Selection ◽  
Chromosomal Gene ◽  
W Chromosome

scholarly journals Population-scale long-read sequencing uncovers transposable elements contributing to gene expression variation and associated with adaptive signatures in Drosophila melanogaster

2021 ◽  
Author(s):  
Gabriel Rech ◽  
Santiago Radio ◽  
Sara Guirao-Rico ◽  
Laura Aguilera ◽  
Vivien Horvath ◽  
...  
Keyword(s):  
Gene Expression ◽  
Genetic Variation ◽  
Transposable Elements ◽  
Natural Populations ◽  
Gene Expression Variation ◽  
High Quality ◽  
Expression Variation ◽  
Climatic Regions ◽  
Genomic Studies ◽  
Reference Genomes

High quality reference genomes are crucial to understanding genome function, structure and evolution. The availability of reference genomes has allowed us to start inferring the role of genetic variation in biology, disease, and biodiversity conservation. However, analyses across organisms demonstrate that a single reference genome is not enough to capture the global genetic diversity present in populations. In this work, we generated 32 high-quality reference genomes for the well-known model species D. melanogaster and focused on the identification and analysis of transposable element variation as they are the most common type of structural variant. We showed that integrating the genetic variation across natural populations from five climatic regions increases the number of detected insertions by 58%. Moreover, 26% to 57% of the insertions identified using long-reads were missed by short-reads methods. We also identified hundreds of transposable elements associated with gene expression variation and new TE variants likely to contribute to adaptive evolution in this species. Our results highlight the importance of incorporating the genetic variation present in natural populations to genomic studies, which is essential if we are to understand how genomes function and evolve.

scholarly journals Extreme heterogeneity in sex chromosome differentiation and dosage compensation in livebearers

2019 ◽  
Vol 116 (38) ◽  
pp. 19031-19036 ◽  
Author(s):  
Iulia Darolti ◽  
Alison E. Wright ◽  
Benjamin A. Sandkam ◽  
Jake Morris ◽  
Natasha I. Bloch ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Dosage Compensation ◽  
Sex Chromosomes ◽  
Poecilia Reticulata ◽  
Sex Chromosome ◽  
Sequencing Data ◽  
Chromosome Differentiation ◽  
Y Chromosomes ◽  
Shared Ancestry ◽  
Suppressed Recombination

Once recombination is halted between the X and Y chromosomes, 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 the variation in sex chromosome differentiation within clades. Here, we combined whole-genome and transcriptome sequencing data to characterize 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 roughly 20 million years ago. 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 and P. wingei are largely homomorphic, with recombination in the former persisting over a substantial fraction. However, the sex chromosomes in P. picta are completely nonrecombining and strikingly heteromorphic. Remarkably, the profound degradation of the ancestral Y chromosome in P. picta is counterbalanced by the evolution of functional chromosome-wide dosage compensation in this species, which has not been previously observed in teleost fish. Our results offer important insight into the initial stages of sex chromosome evolution and dosage compensation.

scholarly journals Population frequencies of transposable elements in selfing and outcrossingCaenorhabditisnematodes

2008 ◽  
Vol 90 (4) ◽  
pp. 317-329 ◽  
Author(s):  
ELIE S. DOLGIN ◽  
BRIAN CHARLESWORTH ◽  
ASHER D. CUTTER
Keyword(s):  
Transposable Elements ◽  
Genome Sequence ◽  
Natural Populations ◽  
Purifying Selection ◽  
Breeding Systems ◽  
Inverted Repeats ◽  
Insertion Polymorphism ◽  
C Elegans ◽  
Selfish Genetic Elements ◽  
Caenorhabditis Remanei

SummaryPopulation genetics theory predicts that differences in breeding systems should be an important factor in the dynamics of selfish genetic elements, because of different intensities of selection on both hosts and elements. We examined population frequencies of transposable elements (TEs) in natural populations of the self-fertilizing nematodeCaenorhabditis elegansand its outcrossing relativeCaenorhabditis remanei. We identified a Tc1-like class of elements in theC. remaneigenome with homology to the terminal inverted repeats of theC. elegansTc1 transposon, which we name mTcre1. We measured levels of insertion polymorphism for all 32 Tc1 elements present in the genome sequence of theC. elegansN2 strain, and 16 mTcre1 elements from the genome sequence of theC. remaneiPB4641 strain. We show that transposons are less polymorphic and segregate at higher frequencies inC. eleganscompared withC. remanei. Estimates of the intensity of selection based on the population frequencies of polymorphic elements suggest that transposons are selectively neutral inC. elegans, but subject to purifying selection inC. remanei. These results are consistent with a reduced efficacy of natural selection against TEs in selfing populations, but may in part be explained by non-equilibrium TE dynamics.

scholarly journals A neutral model for the loss of recombination on sex chromosomes

2021 ◽  
Vol 376 (1832) ◽  
pp. 20200096 ◽  
Author(s):  
Daniel L. Jeffries ◽  
Jörn F. Gerchen ◽  
Mathias Scharmann ◽  
John R. Pannell
Keyword(s):  
Sex Chromosomes ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Sequence Divergence ◽  
Theme Issue ◽  
Recombination Rates ◽  
Natural Systems ◽  
Adaptive Processes ◽  
Sexually Antagonistic Selection ◽  
Suppressed Recombination

The loss of recombination between sex chromosomes has occurred repeatedly throughout nature, with important implications for their subsequent evolution. Explanations for this remarkable convergence have generally invoked only adaptive processes (e.g. sexually antagonistic selection); however, there is still little evidence for these hypotheses. Here we propose a model in which recombination on sex chromosomes is lost due to the neutral accumulation of sequence divergence adjacent to (and thus, in linkage disequilibrium with) the sex determiner. Importantly, we include in our model the fact that sequence divergence, in any form, reduces the probability of recombination between any two sequences. Using simulations, we show that, under certain conditions, a region of suppressed recombination arises and expands outwards from the sex-determining locus, under purely neutral processes. Further, we show that the rate and pattern of recombination loss are sensitive to the pre-existing recombination landscape of the genome and to sex differences in recombination rates, with patterns consistent with evolutionary strata emerging under some conditions. We discuss the applicability of these results to natural systems. This article is part of the theme issue ‘Challenging the paradigm in sex chromosome evolution: empirical and theoretical insights with a focus on vertebrates (Part I)’.

scholarly journals Evolution of sex chromosomes is prior to speciation in the dioecious Phoenix species

2015 ◽  
Author(s):  
Emira Cherif ◽  
Salwa Zehdi ◽  
Amandine Crabos ◽  
Karina Castillo ◽  
Nathalie Chabrillange ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Applied Research ◽  
Date Palm ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Driving Forces ◽  
Molecular Processes ◽  
Dioecious Species ◽  
The Family ◽  
Suppressed Recombination

Understanding the driving forces and molecular processes underlying dioecy and sex chromosome evolution, leading from hermaphroditism to the occurrence of male and female individuals, is of considerable interest in fundamental and applied research. The genus Phoenix, belonging to the family Arecaceae, consists of only dioecious species. Phylogenetic data suggests that the genus Phoenix diverged from a hermaphroditic ancestor shared with its closest relatives. Here we investigated the evolution of suppressed recombination within the genus Phoenix as a whole by extending the analysis of P. dactylifera sex-related loci to eight other species within the genus. We also performed a phylogenetic analysis of a date palm sex-linked PdMYB1 gene in these species. We found that X and Y sex-linked alleles clustered in a species-independent fashion. Our data show that sex chromosomes evolved before the diversification of the extant dioecious species. Furthermore, the distribution of Y haplotypes revealed two male ancestral paternal lineages which may have emerged prior to speciation.

scholarly journals Circular RNA repertoires are associated with evolutionarily young transposable elements

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Franziska Gruhl ◽  
Peggy Janich ◽  
Henrik Kaessmann ◽  
David Gatfield
Keyword(s):  
Transposable Elements ◽  
Repetitive Sequences ◽  
Purifying Selection ◽  
Circular Rna ◽  
Circular Rnas ◽  
Orthologous Genes ◽  
Transposon Insertion ◽  
Orthologous Loci ◽  
Transcriptional Gene Regulation ◽  
Species Specific

Circular RNAs (circRNAs) are found across eukaryotes and can function in post-transcriptional gene regulation. Their biogenesis through a circle-forming backsplicing reaction is facilitated by reverse-complementary repetitive sequences promoting pre-mRNA folding. Orthologous genes from which circRNAs arise, overall contain more strongly conserved splice sites and exons than other genes, yet it remains unclear to what extent this conservation reflects purifying selection acting on the circRNAs themselves. Our analyses of circRNA repertoires from five species representing three mammalian lineages (marsupials, eutherians: rodents, primates) reveal that surprisingly few circRNAs arise from orthologous exonic loci across all species. Even the circRNAs from orthologous loci are associated with young, recently active and species-specific transposable elements, rather than with common, ancient transposon integration events. These observations suggest that many circRNAs emerged convergently during evolution - as a byproduct of splicing in orthologs prone to transposon insertion. Overall, our findings argue against widespread functional circRNA conservation.

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