Monotreme chromosomes: an introductory review

2009 ◽  
Vol 57 (4) ◽  
pp. 149 ◽  
Author(s):  
Carolyn E. Murtagh ◽  
G. B. Sharman
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Common Ancestor ◽  
Reciprocal Translocations ◽  
New Techniques ◽  
Y Chromosomes ◽  
New Directions ◽  
A Chain ◽  
Sex Determination Mechanisms ◽  
Introductory Review

The three extant genera of the prototherian mammals, Ornithorhynchus (platypus), Tachyglossus (Australian echidna) and Zaglossus (New Guinea echidna), all have a mechanism of sex determination at odds with that seen in eutherian and metatherian mammals. Indeed, they stand apart from all vertebrates. Instead of the XX/XY, X1X2Y or ZZ/ZW systems seen in the majority of vertebrates the monotremes have a chain of nine (or ten) chromosomes present during meiosis in the male. This is believed to be the consequence of a presumed series of reciprocal translocations involving four autosomal pairs and the original X and Y chromosomes. The presence of this chain in all three genera indicates that a similar chain occurred in their common ancestor. This paper provides an overview of the search to unravel the mystery of this chain and to determine the identity of the sex chromosomes and members of the chain. The development of new techniques has hugely facilitated clarification of the findings of the earlier researchers. As a result, the chromosomes of the platypus and the echidna have now been individually described, the chain elements and/or sex chromosomes have been identified unambiguously and their order in the chain has been determined. The research reviewed here has also provided insights into the evolution of mammalian sex chromosomes and given new directions for unravelling dosage compensation and sex-determination mechanisms in mammals.

A cytogenetic survey of 25 species of lower termites from Australia

Genome ◽  
1990 ◽  
Vol 33 (1) ◽  
pp. 80-88 ◽  
Author(s):  
Peter Luykx
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Common Ancestor ◽  
Systematic Position ◽  
Necessary Condition ◽  
X Chromosomes ◽  
Y Chromosomes ◽  
Cytogenetic Survey ◽  
The Difference ◽  
High Degree

A survey of 25 species of lower termites (families Mastotermitidae, Termopsidae, and Kalotermitidae) in Australia revealed that centric fusions are a common theme in karyotype evolution in these insects. All but one of the species studied have a basic XX/XY mechanism of sex determination, secondarily complicated in about a third of a species by centric fusions between autosomes and sex chromosomes. There is no obvious relationship between systematic position and presence or absence of these fusions. Fusions between Y chromosomes and autosomes were more common than fusions between X chromosomes and autosomes, in accord with the prediction of the hypothesis that differential selection between the two sexes is the basis for the spread of sex-linked fusions. The absence of these fusions in many species does not favor the idea that a high degree of sex linkage is a necessary condition for the establishment or maintenance of eusocial behavior in termites. The difference in the mechanism of sex determination from that of cockroaches (XX/XO) argues against the evolutionary derivation of termites from ancestral cockroaches; derivation of both groups from some common ancestor with XX/XY sex determination is more likely.Key words: termites, karotype, evolution, sex chromosomes, Australia.

scholarly journals The maintenance of polygenic sex determination depends on the dominance of fitness effects which are predictive of the role of sexual antagonism

2021 ◽  
Author(s):  
Richard P Meisel
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
House Fly ◽  
Sexual Antagonism ◽  
Antagonistic Effects ◽  
Fitness Effects ◽  
Y Chromosomes ◽  
Sexually Antagonistic Selection ◽  
The Individual ◽  
Polygenic Sex Determination

Abstract In species with polygenic sex determination, multiple male- and female-determining loci on different proto-sex chromosomes segregate as polymorphisms within populations. The extent to which these polymorphisms are at stable equilibria is not yet resolved. Previous work demonstrated that polygenic sex determination is most likely to be maintained as a stable polymorphism when the proto-sex chromosomes have opposite (sexually antagonistic) fitness effects in males and females. However, these models usually consider polygenic sex determination systems with only two proto-sex chromosomes, or they do not broadly consider the dominance of the alleles under selection. To address these shortcomings, I used forward population genetic simulations to identify selection pressures that can maintain polygenic sex determination under different dominance scenarios in a system with more than two proto-sex chromosomes (modeled after the house fly). I found that overdominant fitness effects of male-determining proto-Y chromosomes are more likely to maintain polygenic sex determination than dominant, recessive, or additive fitness effects. The overdominant fitness effects that maintain polygenic sex determination tend to have proto-Y chromosomes with sexually antagonistic effects (male-beneficial and female-detrimental). In contrast, dominant fitness effects that maintain polygenic sex determination tend to have sexually antagonistic multi-chromosomal genotypes, but the individual proto-sex chromosomes do not have sexually antagonistic effects. These results demonstrate that sexual antagonism can be an emergent property of the multi-chromosome genotype without individual sexually antagonistic chromosomes. My results further illustrate how the dominance of fitness effects has consequences for both the likelihood that polygenic sex determination will be maintained as well as the role sexually antagonistic selection is expected to play in maintaining the polymorphism.

scholarly journals Temperature-dependent effects of house fly proto-Y chromosomes on gene expression act independently of the sex determination pathway

2020 ◽  
Author(s):  
Kiran Adhikari ◽  
Jae Hak Son ◽  
Anna H. Rensink ◽  
Jaweria Jaweria ◽  
Daniel Bopp ◽  
...  
Keyword(s):  
Gene Expression ◽  
Sex Determination ◽  
Sex Chromosomes ◽  
Developmental Process ◽  
Natural Populations ◽  
House Fly ◽  
Sexually Dimorphic ◽  
Temperature Dependent ◽  
Y Chromosomes ◽  
Polygenic Sex Determination

AbstractSex determination, the developmental process by which sexually dimorphic phenotypes are established, evolves fast. Species with polygenic sex determination, in which master regulatory genes are found on multiple different proto-sex chromosomes, are informative models to study the evolution of sex determination. House flies are such a model system, with male determining loci possible on all six chromosomes and a female-determiner on one of the chromosomes as well. The distributions of the two most common male-determining proto-Y chromosomes across natural populations suggests that temperature variation is an important selection pressure responsible for maintaining polygenic sex determination in this species. To test that hypothesis, we used RNA-seq to identify temperature-dependent effects of the proto-Y chromosomes on gene expression. We find no evidence for ecologically meaningful temperature-dependent expression of sex determining genes between male genotypes, but we identified hundreds of other genes whose expression depends on the interaction between proto-Y chromosome genotype and temperature. Notably, genes with genotype-by-temperature interactions on expression are not enriched on the proto-sex chromosomes. Moreover, there is no evidence that temperature-dependent expression is driven by chromosome-wide expression divergence between the proto-Y and proto-X alleles. Therefore, if temperature-dependent gene expression is responsible for differences in phenotypes and fitness of proto-Y genotypes across house fly populations, these effects are driven by a small number of temperature-dependent alleles on the proto-Y chromosomes.

scholarly journals The maintenance of polygenic sex determination depends on the dominance of fitness effects which are predictive of the role of sexual antagonism

2020 ◽  
Author(s):  
Richard P. Meisel
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Natural Populations ◽  
House Fly ◽  
Sexual Antagonism ◽  
Antagonistic Selection ◽  
Fitness Effects ◽  
Y Chromosomes ◽  
Sexually Antagonistic Selection ◽  
Polygenic Sex Determination

AbstractIn species with polygenic sex determination, multiple male- and/or female-determining loci on different proto-sex chromosomes segregate as polymorphisms within populations. The extent to which these polymorphisms are stable equilibria is not yet resolved. Previous work demonstrated that polygenic sex determination is most likely to be maintained as a stable polymorphism when the proto-sex chromosomes have opposite (sexually antagonistic) fitness effects in males and females. However, these models usually consider polygenic sex determination systems with only two proto-sex chromosomes, or they do not broadly consider the dominance of the variants under selection. To address these shortcomings, I used forward population genetic simulations to identify selection pressures that can maintain polygenic sex determination under different dominance scenarios in a system with more than two proto-sex chromosomes (modeled after the house fly). I found that overdominant fitness effects of male-determining proto-Y chromosomes in males are more likely to maintain polygenic sex determination than dominant, recessive, or additive fitness effects. I also found that additive fitness effects that maintain polygenic sex determination have the strongest signatures of sexually antagonistic selection, but there is also some evidence for sexually antagonism when fitness effects of proto-Y chromosomes are dominant or recessive. More generally, these results suggest that the expected effect of sexually antagonistic selection on the maintenance of genetic variation in natural populations will depend on whether the alleles are sex-linked and the dominance of their fitness effects.

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 Sex chromosome evolution, heterochiasmy and physiological QTL in the salmonid Brook Charr Salvelinus fontinalis

2017 ◽  
Author(s):  
Ben J. G. Sutherland ◽  
Ciro Rico ◽  
Céline Audet ◽  
Louis Bernatchez
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Genetic Architecture ◽  
Salvelinus Fontinalis ◽  
Sex Chromosome ◽  
Brook Charr ◽  
Determination System ◽  
Males And Females ◽  
Sex Determination System ◽  
Sex Determination Mechanisms

ABSTRACTWhole genome duplication can have large impacts on genome evolution, and much remains unknown about these impacts. This includes the mechanisms of coping with a duplicated sex determination system and whether this has an impact on increasing the diversity of sex determination mechanisms. Other impacts include sexual conflict, where alleles having different optimums in each sex can result in sequestration of genes into non-recombining sex chromosomes. Sex chromosome development itself may involve sex-specific recombination rate (i.e. heterochiasmy), which is also poorly understood. Family Salmonidae is a model system for these phenomena, having undergone autotetraploidization and subsequent rediploidization in most of the genome at the base of the lineage. The salmonid master sex determining gene is known, and many species have non-homologous sex chromosomes, putatively due to transposition of this gene. In this study, we identify the sex chromosome of Brook Charr Salvelinus fontinalis and compare sex chromosome identities across the lineage (eight species, four genera). Although non-homology is frequent, homologous sex chromosomes and other consistencies are present in distantly related species, indicating probable convergence on specific sex and neo-sex chromosomes. We also characterize strong heterochiasmy with 2.7-fold more crossovers in maternal than paternal haplotypes with paternal crossovers biased to chromosome ends. When considering only rediploidized chromosomes, the overall heterochiasmy trend remains, although with only 1.9-fold more recombination in the female than the male. Y chromosome crossovers are restricted to a single end of the chromosome, and this chromosome contains a large interspecific inversion, although its status between males and females remains unknown. Finally, we identify QTL for 21 unique growth, reproductive and stress-related phenotypes to improve knowledge of the genetic architecture of these traits important to aquaculture and evolution.

scholarly journals Rapid evolution of complete dosage compensation in Poecilia

2021 ◽  
Author(s):  
David C.H. Metzger ◽  
Benjamin A. Sandkam ◽  
Iulia Darolti ◽  
Judith E. Mank
Keyword(s):  
Gene Expression ◽  
Dosage Compensation ◽  
Sex Chromosomes ◽  
Evolutionary Dynamics ◽  
Common Ancestor ◽  
Sex Chromosome ◽  
Close Relative ◽  
Y Chromosomes ◽  
Compensation Mechanisms ◽  
The Common

ABSTRACTDosage 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.

scholarly journals Evolution of sex determination mechanisms and sex chromosomes

2019 ◽  
Vol 49 (4) ◽  
pp. 403-420
Author(s):  
RuiFeng WU ◽  
XiaoMan XU ◽  
Qi ZHOU
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Evolution Of Sex ◽  
Sex Determination Mechanisms

scholarly journals The female (XX) and male (YY) genomes provide insights into the sex determination mechanism in spinach

2020 ◽  
Author(s):  
Hongbing She ◽  
Zhiyuan Liu ◽  
Zhaosheng Xu ◽  
Helong Zhang ◽  
Feng Cheng ◽  
...  
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Sex Chromosomes ◽  
Large Scale ◽  
Recombination Suppression ◽  
Autosomal Region ◽  
Male Genome ◽  
Y Chromosomes ◽  
Primary Means ◽  
Almost All

AbstractSexual reproduction is the primary means of reproduction for the vast majority of macroscopic organisms, including almost all animals and plants. Sex chromosomes are predicted to play a central role in sexual dimorphism. Sex determination in spinach is controlled by a pair of sex chromosomes. However, the mechanisms of sex determination in spinach remain poorly understand. Here, we assembled the genomes of both a female (XX) and a male (YY) individual of spinach, and the genome sizes were 978 Mb with 28,320 predicted genes and 926 Mb with 26,537 predicted genes, respectively. Based on reported sex-linked markers, chromosomes 4 of the female and male genome were defined as the X and Y chromosomes, and a 10 Mb male-specific region of the Y chromosome (MSY) from approximately 95– 105 Mb, was identified that contains abundant transposable elements (92.32%). Importantly, a large-scale inversion of about 13 Mb in length was detected on the X chromosome, corresponding to ~9 Mb and ~4 Mb on the Y chromosome, which were located on both sides of the MSY with two distinct evolutionary strata. Almost all sex-linked/Y-specific markers were enriched on the inversions/MSY, suggesting that the flanked inversions might result in recombination suppression between the X and Y chromosomes to maintain the MSY. Forty-nine genes within the MSY had functional homologs elsewhere in the autosomal region, suggesting movement of genes onto the MSY. The X and Y chromosomes of spinach provide a valuable resource for investigating spinach sex chromosomes evolution from wild to cultivated spinach and also provide a broader understanding of the sex determination model in the Amaranthaceae family.

Monotreme sex chromosomes - implications for the evolution of amniote sex chromosomes

2009 ◽  
Vol 21 (8) ◽  
pp. 943 ◽  
Author(s):  
Paul D. Waters ◽  
Jennifer A. Marshall Graves
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Female Development ◽  
Comparative Gene Mapping ◽  
Y Chromosomes ◽  
Daunting Task ◽  
Platypus Genome ◽  
Genetic Events

In vertebrates, a highly conserved pathway of genetic events controls male and female development, to the extent that many genes involved in human sex determination are also involved in fish sex determination. Surprisingly, the master switch to this pathway, which intuitively could be considered the most critical step, is inconsistent between vertebrate taxa. Interspersed in the vertebrate tree there are species that determine sex by environmental cues such as the temperature at which eggs are incubated, and then there are genetic sex-determination systems, with male heterogametic species (XY systems) and female heterogametic species (ZW systems), some of which have heteromorphic, and others homomorphic, sex chromosomes. This plasticity of sex-determining switches in vertebrates has made tracking the events of sex chromosome evolution in amniotes a daunting task, but comparative gene mapping is beginning to reveal some striking similarities across even distant taxa. In particular, the recent completion of the platypus genome sequence has completely changed our understanding of when the therian mammal X and Y chromosomes first arose (they are up to 150 million years younger than previously thought) and has also revealed the unexpected insight that sex determination of the amniote ancestor might have been controlled by a bird-like ZW system.

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