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Genes
Special Issues
Functional Evolution of Sex Chromosomes
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Functional Evolution of Sex Chromosomes

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Population and Evolutionary Genetics and Genomics".

Deadline for manuscript submissions: closed (30 June 2020) | Viewed by 17175

Special Issue Editors

Prof. Dr. Tariq Ezaz

E-Mail Website
Guest Editor
Institute for Applied Ecology, University of Canberra, Canberra, Australia
Interests: sex determination; sex chromosomes; comparative genomics
Special Issues, Collections and Topics in MDPI journals
Dr. Kornsorn Srikulnath

E-Mail Website
Guest Editor
1. Animal Genomics and Bioresource Research Unit (AGB Research Unit), Faculty of Science, Kasetsart University, Bangkok, Thailand
2. Laboratory of Animal Cytogenetics & Comparative Genomics (ACCG), Department of Genetics, Faculty of Science, Kasetsart University, Bangkok, Thailand
3. Special Research Unit for Wildlife Genomics (SRUWG), Department of Forest Biology, Faculty of Forestry, Kasetsart University, Bangkok, Thailand
Interests: sex chromosomes; vertebrate genome evolution; chromosome evolution; cytogenetics; comparative genomics; mitochondrial genome analysis; satellite DNA; transposon; genetic diversity
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Marcelo de Bello Cioffi

E-Mail Website
Co-Guest Editor
Departamento de Genética e Evolução, Universidade de São Carlos, Brazil
Interests: sex chromosome evolution; molecular cytogenetics; biogeography; fish cytogenomics

Special Issue Information

Dear Colleagues,

Sex chromosomes evolved independently multiple times from a homologous autosomal pair in both plants and animals when one of the chromosomal partners acquired a sex-specific allele/mutation, which subsequently hitchhiked genes and changed conformation for functional specialisation. Two alternative modes of sex determining and sex chromosome systems (e.g., male heterogamety—XX/XY and female heterogamety—ZZ/ZW) have evolved in all characterised organisms, but variations and departures from these two systems are common rather than being coincidences. X or Z chromosomes often resemble the autosome from which they were derived; by contrast, Y or W chromosomes dramatically reorganised their gene content and structure. Genes on sex chromosomes not only play an important role in sex determination and gonadal differentiation, they are also involved in many critical functions such as brain development and growth. Recent investigations using modern genomic and advanced cytogenetic tools on a number of organisms have provided intriguing and unique evolutionary dynamics of sex chromosomal genes; however, the best way to delineate the unique functional evolution pathways of sex chromosomes in most lineages remains largely unclear. Several Y- or W-linked genes are not remnants of X or Z chromosomes but appear to have been subsequently acquired on the Y or W after undergoing specialisation from their counterpart. These Y- or W-linked genes have evolved sex-specific beneficial functions, while many other genes on Y and W arose from those ancestrally present on the proto-sex chromosomes with broad expression patterns and homologs (gametologs) on the X or Z. These genes may have been retained to maintain dosage compensation to balance the products of degenerated or lost genes from the Y or W. Orthologs or paralogs of these genes also appear repeatedly on different autosomes in distantly related species with independently evolved/derived sex chromosomes. Sex chromosomal genes may involve divergent selection across multiple lineages involving polygenic and epigenetic mechanisms that arose to adapt to the changing environment or other processes. More information is required concerning the dynamics of the evolution of sex chromosomal gene function. This Special Issue will highlight the functional evolution of sex chromosomes across different groups of organisms including their sequence content (genes and transcript) and chromatin conformation.

Prof. Tariq Ezaz
Prof. Kornsorn Srikulnath
Prof. Marcelo de Bello Cioffi
Guest Editors

Manuscript Submission Information

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Keywords

  • Autosomes
  • Sex chromosome
  • Sex determination
  • Dosage compensation
  • Gametologous genes
  • Epigenetics
  • Polygene
  • Neofunctionalisation
  • Gene silencing
  • Heterochromatisation
  • Epistasis
  • Linkage
  • Muller’s ratchet
  • Sexual selection
  • Pseudogene
  • Phenotype

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Published Papers (4 papers)

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Research

14 pages, 1905 KiB  
Article
The Female-Specific W Chromosomes of Birds Have Conserved Gene Contents but Are Not Feminized
by Luohao Xu and Qi Zhou
Genes 2020, 11(10), 1126; https://doi.org/10.3390/genes11101126 - 25 Sep 2020
Cited by 28 | Viewed by 4719
Abstract
Sex chromosomes are unique genomic regions with sex-specific or sex-biased inherent patterns and are expected to be more frequently subject to sex-specific selection. Substantial knowledge on the evolutionary patterns of sex-linked genes have been gained from the studies on the male heterogametic systems [...] Read more.
Sex chromosomes are unique genomic regions with sex-specific or sex-biased inherent patterns and are expected to be more frequently subject to sex-specific selection. Substantial knowledge on the evolutionary patterns of sex-linked genes have been gained from the studies on the male heterogametic systems (XY male, XX female), but the understanding of the role of sex-specific selection in the evolution of female-heterogametic sex chromosomes (ZW female, ZZ male) is limited. Here we collect the W-linked genes of 27 birds, covering the three major avian clades: Neoaves (songbirds), Galloanserae (chicken), and Palaeognathae (ratites and tinamous). We find that the avian W chromosomes exhibit very conserved gene content despite their independent evolution of recombination suppression. The retained W-linked genes have higher dosage-sensitive and higher expression level than the lost genes, suggesting the role of purifying selection in their retention. Moreover, they are not enriched in ancestrally female-biased genes, and have not acquired new ovary-biased expression patterns after becoming W-linked. They are broadly expressed across female tissues, and the expression profile of the W-linked genes in females is not deviated from that of the homologous Z-linked genes. Together, our new analyses suggest that female-specific positive selection on the avian W chromosomes is limited, and the gene content of the W chromosomes is mainly shaped by purifying selection. Full article
(This article belongs to the Special Issue Functional Evolution of Sex Chromosomes)
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28 pages, 7981 KiB  
Article
Patterns of Sex Chromosome Differentiation in Spiders: Insights from Comparative Genomic Hybridisation
by Alexandr Sember, Michaela Pappová, Martin Forman, Petr Nguyen, František Marec, Martina Dalíková, Klára Divišová, Marie Doležálková-Kaštánková, Magda Zrzavá, David Sadílek, Barbora Hrubá and Jiří Král
Genes 2020, 11(8), 849; https://doi.org/10.3390/genes11080849 - 24 Jul 2020
Cited by 11 | Viewed by 4014
Abstract
Spiders are an intriguing model to analyse sex chromosome evolution because of their peculiar multiple X chromosome systems. Y chromosomes were considered rare in this group, arising after neo-sex chromosome formation by X chromosome-autosome rearrangements. However, recent findings suggest that Y chromosomes are [...] Read more.
Spiders are an intriguing model to analyse sex chromosome evolution because of their peculiar multiple X chromosome systems. Y chromosomes were considered rare in this group, arising after neo-sex chromosome formation by X chromosome-autosome rearrangements. However, recent findings suggest that Y chromosomes are more common in spiders than previously thought. Besides neo-sex chromosomes, they are also involved in the ancient X1X2Y system of haplogyne spiders, whose origin is unknown. Furthermore, spiders seem to exhibit obligatorily one or two pairs of cryptic homomorphic XY chromosomes (further cryptic sex chromosome pairs, CSCPs), which could represent the ancestral spider sex chromosomes. Here, we analyse the molecular differentiation of particular types of spider Y chromosomes in a representative set of ten species by comparative genomic hybridisation (CGH). We found a high Y chromosome differentiation in haplogyne species with X1X2Y system except for Loxosceles spp. CSCP chromosomes exhibited generally low differentiation. Possible mechanisms and factors behind the observed patterns are discussed. The presence of autosomal regions marked predominantly or exclusively with the male or female probe was also recorded. We attribute this pattern to intraspecific variability in the copy number and distribution of certain repetitive DNAs in spider genomes, pointing thus to the limits of CGH in this arachnid group. In addition, we confirmed nonrandom association of chromosomes belonging to particular CSCPs at spermatogonial mitosis and spermatocyte meiosis and their association with multiple Xs throughout meiosis. Taken together, our data suggest diverse evolutionary pathways of molecular differentiation in different types of spider Y chromosomes. Full article
(This article belongs to the Special Issue Functional Evolution of Sex Chromosomes)
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15 pages, 6345 KiB  
Article
Evolutionary Variability of W-Linked Repetitive Content in Lacertid Lizards
by Grzegorz Suwala, Marie Altmanová, Sofia Mazzoleni, Emmanouela Karameta, Panayiotis Pafilis, Lukáš Kratochvíl and Michail Rovatsos
Genes 2020, 11(5), 531; https://doi.org/10.3390/genes11050531 - 11 May 2020
Cited by 13 | Viewed by 2896
Abstract
Lacertid lizards are a widely radiated group of squamate reptiles with long-term stable ZZ/ZW sex chromosomes. Despite their family-wide homology of Z-specific gene content, previous cytogenetic studies revealed significant variability in the size, morphology, and heterochromatin distribution of their W chromosome. However, there [...] Read more.
Lacertid lizards are a widely radiated group of squamate reptiles with long-term stable ZZ/ZW sex chromosomes. Despite their family-wide homology of Z-specific gene content, previous cytogenetic studies revealed significant variability in the size, morphology, and heterochromatin distribution of their W chromosome. However, there is little evidence about the accumulation and distribution of repetitive content on lacertid chromosomes, especially on their W chromosome. In order to expand our knowledge of the evolution of sex chromosome repetitive content, we examined the topology of telomeric and microsatellite motifs that tend to often accumulate on the sex chromosomes of reptiles in the karyotypes of 15 species of lacertids by fluorescence in situ hybridization (FISH). The topology of the above-mentioned motifs was compared to the pattern of heterochromatin distribution, as revealed by C-banding. Our results show that the topologies of the examined motifs on the W chromosome do not seem to follow a strong phylogenetic signal, indicating independent and species-specific accumulations. In addition, the degeneration of the W chromosome can also affect the Z chromosome and potentially also other parts of the genome. Our study provides solid evidence that the repetitive content of the degenerated sex chromosomes is one of the most evolutionary dynamic parts of the genome. Full article
(This article belongs to the Special Issue Functional Evolution of Sex Chromosomes)
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12 pages, 15515 KiB  
Article
Absence of W Chromosome in Psychidae Moths and Implications for the Theory of Sex Chromosome Evolution in Lepidoptera
by Martina Hejníčková, Petr Koutecký, Pavel Potocký, Irena Provazníková, Anna Voleníková, Martina Dalíková, Sander Visser, František Marec and Magda Zrzavá
Genes 2019, 10(12), 1016; https://doi.org/10.3390/genes10121016 - 5 Dec 2019
Cited by 15 | Viewed by 4551
Abstract
Moths and butterflies (Lepidoptera) are the largest group with heterogametic females. Although the ancestral sex chromosome system is probably Z0/ZZ, most lepidopteran species have the W chromosome. When and how the W chromosome arose remains elusive. Existing hypotheses place the W origin either [...] Read more.
Moths and butterflies (Lepidoptera) are the largest group with heterogametic females. Although the ancestral sex chromosome system is probably Z0/ZZ, most lepidopteran species have the W chromosome. When and how the W chromosome arose remains elusive. Existing hypotheses place the W origin either at the common ancestor of Ditrysia and Tischeriidae, or prefer independent origins of W chromosomes in these two groups. Due to their phylogenetic position at the base of Ditrysia, bagworms (Psychidae) play an important role in investigating the W chromosome origin. Therefore, we examined the W chromosome status in three Psychidae species, namely Proutia betulina, Taleporia tubulosa, and Diplodoma laichartingella, using both classical and molecular cytogenetic methods such as sex chromatin assay, comparative genomic hybridization (CGH), and male vs. female genome size comparison by flow cytometry. In females of all three species, no sex chromatin was found, no female-specific chromosome regions were revealed by CGH, and a Z-chromosome univalent was observed in pachytene oocytes. In addition, the genome size of females was significantly smaller than males. Overall, our study provides strong evidence for the absence of the W chromosome in Psychidae, thus supporting the hypothesis of two independent W chromosome origins in Tischeriidae and in advanced Ditrysia. Full article
(This article belongs to the Special Issue Functional Evolution of Sex Chromosomes)
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