scholarly journals The sequence of a male-specific genome region containing the sex determination switch in Aedes aegypti

2017 ◽  
Author(s):  
Joe Turner ◽  
Ritesh Krishna ◽  
Arjen E. Van’t Hof ◽  
Elizabeth R. Sutton ◽  
Kelly Matzen ◽  
...  
Keyword(s):  
Aedes Aegypti ◽  
Sex Determination ◽  
Sex Chromosome ◽  
Bac Library ◽  
Principal Vector ◽  
Genome Region ◽  
Large Gene ◽  
Y Chromosomes ◽  
Repetitive Nature ◽  
Male Specific

Aedes aegypti is the principal vector of several important arboviruses. Among the methods of vector control to limit transmission of disease are genetic strategies that involve the release of sterile or genetically modified non-biting males (Alphey 2014), which has generated interest in manipulating mosquito sex ratios (Gilles et al. 2014; Adelman and Tu 2016). Sex determination in Ae. aegypti is controlled by a non-recombining Y chromosome-like region called the M locus (Craig et al. 1960), yet characterisation of this locus has been thwarted by the repetitive nature of the genome (Hall et al. 2015). In 2015, an M locus gene named Nix was identified that displays the qualities of a sex determination switch (Hall et al. 2015). With the use of a whole-genome BAC library, we amplified and sequenced a ~200kb region containing this male-determining gene. In this study, we show that Nix is comprised of two exons separated by a 99kb intron, making it an unusually large gene. The intron sequence is highly repetitive and exhibits features in common with old Y chromosomes, and we speculate that the lack of recombination at the M locus has allowed the expansion of repeats in a manner characteristic of a sex-limited chromosome, in accordance with proposed models of sex chromosome evolution in insects.

scholarly journals The sequence of a male-specific genome region containing the sex determination switch in Aedes aegypti

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Joe Turner ◽  
Ritesh Krishna ◽  
Arjen E. van’t Hof ◽  
Elizabeth R. Sutton ◽  
Kelly Matzen ◽  
...  
Keyword(s):  
Aedes Aegypti ◽  
Sex Determination ◽  
Genome Region ◽  
Male Specific

scholarly journals A 180 Myr-old female-specific genome region in sturgeon reveals the oldest known vertebrate sex determining system with undifferentiated sex chromosomes

2021 ◽  
Vol 376 (1832) ◽  
pp. 20200089
Author(s):  
Heiner Kuhl ◽  
Yann Guiguen ◽  
Christin Höhne ◽  
Eva Kreuz ◽  
Kang Du ◽  
...  
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Specific Sequence ◽  
Genome Region ◽  
Acipenser Ruthenus ◽  
Determination System ◽  
Sex Determination System ◽  
Female Specific ◽  
Polyploidization Event

Several hypotheses explain the prevalence of undifferentiated sex chromosomes in poikilothermic vertebrates. Turnovers change the master sex determination gene, the sex chromosome or the sex determination system (e.g. XY to WZ). Jumping master genes stay main triggers but translocate to other chromosomes. Occasional recombination (e.g. in sex-reversed females) prevents sex chromosome degeneration. Recent research has uncovered conserved heteromorphic or even homomorphic sex chromosomes in several clades of non-avian and non-mammalian vertebrates. Sex determination in sturgeons (Acipenseridae) has been a long-standing basic biological question, linked to economical demands by the caviar-producing aquaculture. Here, we report the discovery of a sex-specific sequence from sterlet ( Acipenser ruthenus ). Using chromosome-scale assemblies and pool-sequencing, we first identified an approximately 16 kb female-specific region. We developed a PCR-genotyping test, yielding female-specific products in six species, spanning the entire phylogeny with the most divergent extant lineages ( A. sturio, A. oxyrinchus versus A. ruthenus, Huso huso ), stemming from an ancient tetraploidization. Similar results were obtained in two octoploid species ( A. gueldenstaedtii, A. baerii ). Conservation of a female-specific sequence for a long period, representing 180 Myr of sturgeon evolution, and across at least one polyploidization event, raises many interesting biological questions. We discuss a conserved undifferentiated sex chromosome system with a ZZ/ZW-mode of sex determination and potential alternatives. 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 Identification of the master sex determining gene in Northern pike (Esox lucius) reveals restricted sex chromosome differentiation

2019 ◽  
Author(s):  
Qiaowei Pan ◽  
Romain Feron ◽  
Ayaka Yano ◽  
René Guyomard ◽  
Elodie Jouanno ◽  
...  
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Wild Population ◽  
Northern Pike ◽  
Esox Lucius ◽  
Telomeric Region ◽  
Male Genome ◽  
Long Reads ◽  
Male Specific

AbstractTeleost fishes, thanks to their rapid evolution of sex determination mechanisms, provide remarkable opportunities to study the formation of sex chromosomes and the mechanisms driving the birth of new master sex determining (MSD) genes. However, the evolutionary interplay between the sex chromosomes and the MSD genes they harbor is rather unexplored. We characterized a male-specific duplicate of the anti-Müllerian hormone (amh) as the MSD gene in Northern Pike (Esox lucius), using genomic and expression evidences as well as by loss-of-function and gain-of-function experiments. Using RAD-Sequencing from a family panel, we identified Linkage Group (LG) 24 as the sex chromosome and positioned the sex locus in its sub-telomeric region. Furthermore, we demonstrated that this MSD originated from an ancient duplication of the autosomal amh gene, which was subsequently translocated to LG24. Using sex-specific pooled genome sequencing and a new male genome sequence assembled using Nanopore long reads, we also characterized the differentiation of the X and Y chromosomes, revealing a small male-specific insertion containing the MSD gene and a limited region with reduced recombination. Our study depicts an unexpected level of limited differentiation within a pair of sex chromosomes harboring an old MSD gene in a wild population of teleost fish, highlights the pivotal role of genes from the amh pathway in sex determination, as well as the importance of gene duplication as a mechanism driving the turnover of sex chromosomes in this clade.Author SummaryIn stark contrast to mammals and birds, teleosts have predominantly homomorphic sex chromosomes and display a high diversity of sex determining genes. Yet, population level knowledge of both the sex chromosome and the master sex determining gene is only available for the Japanese medaka, a model species. Here we identified and provided functional proofs of an old duplicate of anti-Müllerian hormone (Amh), a member of the Tgf-β family, as the male master sex determining gene in the Northern pike, Esox lucius. We found that this duplicate, named amhby (Y-chromosome-specific anti-Müllerian hormone paralog b), was translocated to the sub-telomeric region of the new sex chromosome, and now amhby shows strong sequence divergence as well as substantial expression pattern differences from its autosomal paralog, amha. We assembled a male genome sequence using Nanopore long reads and identified a restricted region of differentiation within the sex chromosome pair in a wild population. Our results provide insight on the conserved players in sex determination pathways, the mechanisms of sex chromosome turnover, and the diversity of levels of differentiation between homomorphic sex chromosomes in teleosts.

scholarly journals Pseudoautosomal gene SHOX exhibits sex-biased random monoallelic expression and contributes to sex difference in height

2021 ◽  
Author(s):  
Atsushi Hattori ◽  
Atsuhito Seki ◽  
Naoto Inaba ◽  
Kazuhiko Nakabayashi ◽  
Kazue Takeda ◽  
...  
Keyword(s):  
Sex Difference ◽  
Sex Chromosome ◽  
Phenotypic Diversity ◽  
Pseudoautosomal Region ◽  
Monoallelic Expression ◽  
Adult Women ◽  
Adult Men ◽  
Y Chromosomes ◽  
Male Specific ◽  
Novel Model

AbstractAdult men are, on average, ∼13 cm taller than adult women. Although previous studies have suggested a significant contribution of sex chromosomal genes to sexual dimorphism in height, all attempts to identify a male-specific growth gene have failed. In the present study, we analyzed transcripts from cartilage tissues, and found that the expression of SHOX, a growth-promoting gene in the pseudoautosomal region on the X and Y chromosomes, was lower in females than in males. DNA methylation analyses showed that SHOX has some characteristics of genes subjected to X chromosome inactivation (XCI). These findings indicate that sex difference in human height is mainly ascribed to incomplete spreading of XCI on a pseudoautosomal gene. More importantly, RT-PCR of fibroblast clones revealed XCI-independent random clonal monoallelic expression of SHOX. We presume that during eutherian evolution, SHOX translocated from an autosome to the proto-sex chromosome without losing the epigenetic memory of random clonal monoallelic expression and subsequently underwent partial XCI. This study provides a novel model of epigenetic gene regulation leading to phenotypic diversity in humans.

Aberrant chromosomal sex-determining mechanisms in mammals, with special reference to species with XY females

1988 ◽  
Vol 322 (1208) ◽  
pp. 83-95 ◽  
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Mammalian Species ◽  
Y Chromosomes ◽  
Wood Lemming ◽  
Xx Males ◽  
Original Size ◽  
Myopus Schisticolor ◽  
Dicrostonyx Torquatus

Both mouse and man have the common XX/XY sex chromosome mechanism. The X chromosome is of original size (5-6% of female haploid set) and the Y is one of the smallest chromosomes of the complement. But there are species, belonging to a variety of orders, with composite sex chromosomes and multiple sex chromosome systems: XX/XY 1 Y 2 and X 1 X 1 X 2 X 2 /X 1 X 2 Y. The original X or the Y, respectively, have been translocated on to an autosome. The sex chromosomes of these species segregate regularly at meiosis; two kinds of sperm and one kind of egg are produced and the sex ratio is the normal 1:1. Individuals with deviating sex chromosome constitutions (XXY, XYY, XO or XXX) have been found in at least 16 mammalian species other than man. The phenotypic manifestations of these deviating constitutions are briefly discussed. In the dog, pig, goat and mouse exceptional XX males and in the horse XY females attract attention. Certain rodents have complicated mechanisms for sex determination: Ellobius lutescens and Tokudaia osimensis have XO males and females. Both sexes of Microtus oregoni are gonosomic mosaics (male OY/XY, female XX/XO). The wood lemming, Myopus schisticolor , the collared lemming, Dicrostonyx torquatus , and perhaps also one or two species of the genus Akodon have XX and XY females and XY males. The XX, X*X and X*Y females of Myopus and Dicrostonyx are discussed in some detail. The wood lemming has proved to be a favourable natural model for studies in sex determination, because a large variety of sex chromosome aneuploids are born relatively frequently. The dosage model for sex determination is not supported by the wood lemming data. For male development, genes on both the X and the Y chromosomes are necessary.

scholarly journals Histone Acetylation and Gene Expression Analysis of Sex lethal Mutants in Drosophila

Genetics ◽  
2000 ◽  
Vol 155 (2) ◽  
pp. 753-763
Author(s):  
Utpal Bhadra ◽  
Manika Pal-Bhadra ◽  
James A Birchler
Keyword(s):  
Gene Expression ◽  
Sex Determination ◽  
Sex Chromosome ◽  
Autosomal Gene ◽  
Single Sex ◽  
Dosage Effects ◽  
Male Specific Lethal ◽  
Sex Lethal ◽  
Male Specific ◽  
Sex Determination Mechanisms

Abstract The evolution of sex determination mechanisms is often accompanied by reduction in dosage of genes on a whole chromosome. Under these circumstances, negatively acting regulatory genes would tend to double the expression of the genome, which produces compensation of the single-sex chromosome and increases autosomal gene expression. Previous work has suggested that to reduce the autosomal expression to the female level, these dosage effects are modified by a chromatin complex specific to males, which sequesters a histone acetylase to the X. The reduced autosomal histone 4 lysine 16 (H4Lys16) acetylation results in lowered autosomal expression, while the higher acetylation on the X is mitigated by the male-specific lethal complex, preventing overexpression. In this report, we examine how mutations in the principal sex determination gene, Sex lethal (Sxl), impact the H4 acetylation and gene expression on both the X and autosomes. When Sxl expression is missing in females, we find that the sequestration occurs concordantly with reductions in autosomal H4Lys16 acetylation and gene expression on the whole. When Sxl is ectopically expressed in SxlM mutant males, the sequestration is disrupted, leading to an increase in autosomal H4Lys16 acetylation and overall gene expression. In both cases we find relatively little effect upon X chromosomal gene expression.

scholarly journals A 180 My-old female-specific genome region in sturgeon reveals the oldest known vertebrate sex determining system with undifferentiated sex chromosomes

2020 ◽  
Author(s):  
Heiner Kuhl ◽  
Yann Guiguen ◽  
Christin Höhne ◽  
Eva Kreuz ◽  
Kang Du ◽  
...  
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Specific Sequence ◽  
Genome Region ◽  
Acipenser Ruthenus ◽  
Determination System ◽  
Sex Determination System ◽  
Female Specific ◽  
Polyploidization Event

SummarySeveral hypotheses explain the prevalence of undifferentiated sex chromosomes in poikilothermic vertebrates. Turnovers change the master sex determination gene, the sex chromosome or the sex determination system (e.g. XY to WZ). Jumping master genes stay main triggers but translocate to other chromosomes. Occasional recombination (e.g. in sex-reversed females) prevents sex chromosome degeneration. Recent research has uncovered conserved heteromorphic or even homomorphic sex chromosomes in several clades of non-avian and non-mammalian vertebrates. Sex determination in sturgeons (Acipenseridae) has been a long-standing basic biological question, linked to economical demands by the caviar-producing aquaculture. Here, we report the discovery of a sex-specific sequence from sterlet (Acipenser ruthenus). Using chromosome-scale assemblies and pool-sequencing, we first identified a ~16 kb female-specific region. We developed a PCR-genotyping test, yielding female-specific products in six species, spanning the entire phylogeny with the most divergent extant lineages (A. sturio, A. oxyrinchus vs. A. ruthenus, Huso huso), stemming from an ancient tetraploidization. Similar results were obtained in two octoploid species (A. gueldenstaedtii, A. baerii). Conservation of a female-specific sequence for a long period, representing 180 My of sturgeon evolution, and across at least one polyploidization event, raises many interesting biological questions. We discuss a conserved undifferentiated sex chromosome system with a ZZ/ZW-mode of sex determination and potential alternatives.

On the evolution of sex determination

1987 ◽  
Vol 232 (1267) ◽  
pp. 159-180 ◽  
Keyword(s):  
Sex Determination ◽  
Sex Chromosome ◽  
Transplantation Antigen ◽  
Specific Cell ◽  
Serological Tests ◽  
Specific Expression ◽  
Heterogametic Sex ◽  
Taxonomic Groups ◽  
Male Specific ◽  
Specific Cell Surface

Female mice reject skin grafts from intrastrain males because of the H-Y transplantation antigen. Those females produce antibodies that recognize a male-specific cell-surface antigen in serological tests. The serological antigen has also been called ‘H-Y’, but there is evidence that the two antigens are distinct. We therefore refer to the transplantation antigen as H-Yt, or transplantation H-Y, and to the serological antigen as serological H-Y, or simply H-Y, without prejudice whether these are the same or related or separate antigens. In this study, sex-specific expression of serological H-Y antigen was found in 25 new vertebrate species representing each of seven major vertebrate classes.There was a strong correlation between expression of H-Y and occurrence of the heterogametic-type gonad, although unusual patterns of H-Y expression were noted in cases of temperature-influenced sex determination and in systems representing possible transition from one mode of heterogamety to the other. Male and female heterogamety are found side-by-side in certain freshwater toothed carps; and distinct sex chromosomes have been recognized in certain amphibians, even though they are not apparent in certain reptiles and primitíve birds. In seven ophidian species, in which the female is the heterogametic sex, H-Y was detected in the female; and in three species of Ranidae in which the male is heterogametic, it was detected in the male. In three species of cartilaginous fish and in one of the cyclostomes, in which heterogamety has not been ascertained, H-Y was detected in the male, suggesting that those primitive fishes are male-heterogametic. Evidently, then, heterogamety and sex-chromosome heteromorphism are polyphyletic, although certain sex-determining genes may be held in common among the diverse taxonomic groups.

scholarly journals Unusual Mammalian Sex Determination Systems: A Cabinet of Curiosities

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1770
Author(s):  
Paul A. Saunders ◽  
Frédéric Veyrunes
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Current Knowledge ◽  
Chromosome Constitution ◽  
Y Chromosomes ◽  
Similarities And Differences ◽  
Cabinet Of Curiosities ◽  
Review Current

Therian mammals have among the oldest and most conserved sex-determining systems known to date. Any deviation from the standard XX/XY mammalian sex chromosome constitution usually leads to sterility or poor fertility, due to the high differentiation and specialization of the X and Y chromosomes. Nevertheless, a handful of rodents harbor so-called unusual sex-determining systems. While in some species, fertile XY females are found, some others have completely lost their Y chromosome. These atypical species have fascinated researchers for over 60 years, and constitute unique natural models for the study of fundamental processes involved in sex determination in mammals and vertebrates. In this article, we review current knowledge of these species, discuss their similarities and differences, and attempt to expose how the study of their exceptional sex-determining systems can further our understanding of general processes involved in sex chromosome and sex determination evolution.

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