Variety Of Sex Determination Systems Research Articles

Identification of sex chromosome and sex-determining gene of southern catfish (Silurus meridionalis) based on XX, XY and YY genome sequencing.

Teleosts are important models to study sex chromosomes and sex-determining (SD) genes because they present a variety of sex determination systems. Here, we used Nanopore and Hi-C technologies to generate a high-contiguity chromosome-level genome assembly of a YY southern catfish (Silurus meridionalis). The assembly is 750.0 Mb long, with contig N50 of 15.96 Mb and scaffold N50 of 27.22 Mb. We also sequenced and assembled an XY male genome with a size of 727.2 Mb and contig N50 of 13.69 Mb. We identified a candidate SD gene through comparisons to our previous assembly of an XX individual. By resequencing male and female pools, we characterized a 2.38 Mb sex-determining region (SDR) on Chr24. Analysis of read coverage and comparison of the X and Y chromosome sequences showed a Y specific insertion (approx. 500 kb) in the SDR which contained a male-specific duplicate of amhr2 (named amhr2y). amhr2y and amhr2 shared high-nucleotide identity (81.0%) in the coding region but extremely low identity in the promotor and intron regions. The exclusive expression in the male gonadal primordium and loss-of-function inducing male to female sex reversal confirmed the role of amhr2y in male sex determination. Our study provides a new example of amhr2 as the SD gene in fish and sheds light on the convergent evolution of the duplication of AMH/AMHR2 pathway members underlying the evolution of sex determination in different fish lineages.

Prediction of the Sex-Associated Genomic Region in Tunas (Thunnus Fishes).

Fish species have a variety of sex determination systems. Tunas (genus Thunnus) have an XY genetic sex determination system. However, the Y chromosome or responsible locus has not yet been identified in males. In a previous study, a female genome of Pacific bluefin tuna (T. orientalis) was sequenced, and candidates for sex-associated DNA polymorphisms were identified by a genome-wide association study using resequencing data. In the present study, we sequenced a male genome of Pacific bluefin tuna by long-read and linked-read sequencing technologies and explored male-specific loci through a comparison with the female genome. As a result, we found a unique region carrying the male-specific haplotype, where a homolog of estrogen sulfotransferase gene was predicted to be encoded. The genome-wide mapping of previously resequenced data indicated that, among the functionally annotated genes, only this gene, named sult1st6y, was paternally inherited in the males of Pacific bluefin tuna. We reviewed the RNA-seq data of southern bluefin tuna (T. maccoyii) in the public database and found that sult1st6y of southern bluefin tuna was expressed in all male testes, but absent or suppressed in the female ovary. Since estrogen sulfotransferase is responsible for the inactivation of estrogens, it is reasonable to assume that the expression of sult1st6y in gonad cells may inhibit female development, thereby inducing the individuals to become males. Thus, our results raise a promising hypothesis that sult1st6y is the sex determination gene in Thunnus fishes or at least functions at a crucial point in the sex-differentiation cascade.

Reconstruction of the birth of a male sex chromosome present in Atlantic herring

The mechanisms underlying sex determination are astonishingly plastic. Particularly the triggers for the molecular machinery, which recalls either the male or female developmental program, are highly variable and have evolved independently and repeatedly. Fish show a huge variety of sex determination systems, including both genetic and environmental triggers. The advent of sex chromosomes is assumed to stabilize genetic sex determination. However, because sex chromosomes are notoriously cluttered with repetitive DNA and pseudogenes, the study of their evolution is hampered. Here we reconstruct the birth of a Y chromosome present in the Atlantic herring. The region is tiny (230 kb) and contains only three intact genes. The candidate male-determining gene BMPR1BBY encodes a truncated form of a BMP1B receptor, which originated by gene duplication and translocation and underwent rapid protein evolution. BMPR1BBY phosphorylates SMADs in the absence of ligand and thus has the potential to induce testis formation. The Y region also contains two genes encoding subunits of the sperm-specific Ca2+ channel CatSper required for male fertility. The herring Y chromosome conforms with a characteristic feature of many sex chromosomes, namely, suppressed recombination between a sex-determining factor and genes that are beneficial for the given sex. However, the herring Y differs from other sex chromosomes in that suppression of recombination is restricted to an ∼500-kb region harboring the male-specific and sex-associated regions. As a consequence, any degeneration on the herring Y chromosome is restricted to those genes located in the small region affected by suppressed recombination.

Consequences of temperature-induced sex reversal on hormones and brain in Nile tilapia (Oreochromis niloticus)

Fish present a wide variety of sex determination systems ranging from strict genetic control (genetic sex determination, GSD) to strict environmental control (environmental sex determination, ESD). Temperature is the most frequent environmental factor influencing sex determination. Nile tilapia (Oreochromis niloticus) is characterized by GSD with male heterogamety (XY/XX), which can be overridden by exposure to high masculinizing temperatures. Sex reversed Nile tilapia (XX males; neomales) have been described in the wild and seem undistinguishable from XY males, but little is known about their physiology. The consideration of climate change urges the need to understand the possible physiological and behavioral consequences of such a sex reversal. The present study compared XX females, XY males and XX neomales for testis maturation, circulating sex -steroid concentrations as well as the size and number of neurons expressing arginine-vasotocin [AVT] and gonadotropin releasing hormone [GnRH] which are involved in sociosexual pathways. The results revealed that temperature-induced sex reversal does not affect testis maturation nor circulating sex steroid concentrations. Neomales show dramatically fewer GnRH1-immunoreactive (-ir) neurons than males and females, despite the observed normal testis physiology. Neomales also present fewer AVT-ir neurons in the magnocellular preoptic area than females and bigger AVT-ir neurons in the parvocellular POA (pPOA) compared to both males and females. The absence of consequences of sex reversal on testis development and secretions despite the reduced numbers of GnRH1 neurons suggests the existence of compensatory mechanisms in the hypothalamic-pituitary-gonadal axis, while the larger pPOA AVT neurons might predict a more submissive behavior in neomales.

Turtles of the genera Geoemyda and Pangshura (Testudines: Geoemydidae) lack differentiated sex chromosomes: the end of a 40-year error cascade for Pangshura.

For a long time, turtles of the family Geoemydidae have been considered exceptional because representatives of this family were thought to possess a wide variety of sex determination systems. In the present study, we cytogenetically studied Geoemyda spengleri and G. japonica and re-examined the putative presence of sex chromosomes in Pangshura smithii. Karyotypes were examined by assessing the occurrence of constitutive heterochromatin, by comparative genome hybridization and in situ hybridization with repetitive motifs, which are often accumulated on differentiated sex chromosomes in reptiles. We found similar karyotypes, similar distributions of constitutive heterochromatin and a similar topology of tested repetitive motifs for all three species. We did not detect differentiated sex chromosomes in any of the species. For P. smithii, a ZZ/ZW sex determination system, with differentiated sex chromosomes, was described more than 40 years ago, but this finding has never been re-examined and was cited in all reviews of sex determination in reptiles. Here, we show that the identification of sex chromosomes in the original report was based on the erroneous pairing of chromosomes in the karyogram, causing over decades an error cascade regarding the inferences derived from the putative existence of female heterogamety in geoemydid turtles.

Gonosomal algebra

We introduce the gonosomal algebra. Gonosomal algebra extends the evolution algebra of the bisexual population (EABP) defined by Ladra and Rozikov. We show that gonosomal algebras can represent algebraically a wide variety of sex determination systems observed in bisexual populations. We illustrate this by about twenty genetic examples, most of these examples cannot be represented by an EABP. We give seven algebraic constructions of gonosomal algebras, each is illustrated by genetic examples. We show that unlike the EABP gonosomal algebras are not dibaric. We approach the existence of dibaric function and idempotent in gonosomal algebras.

Sex chromosomes and karyotype of the (nearly) mythical creature, the Gila monster, Heloderma suspectum (Squamata: Helodermatidae).

A wide variety of sex determination systems exist among squamate reptiles. They can therefore serve as an important model for studies of evolutionary transitions among particular sex determination systems. However, we still have only a limited knowledge of sex determination in certain important lineages of squamates. In this respect, one of the most understudied groups is the family Helodermatidae (Anguimorpha) encompassing the only two venomous species of lizards which are potentially lethal to human beings. We uncovered homomorphic ZZ/ZW sex chromosomes in the Gila monster (Heloderma suspectum) with a highly heterochromatic W chromosome. The sex chromosomes are morphologically similar to the ZZ/ZW sex chromosomes of monitor lizards (Varanidae). If the sex chromosomes of helodermatids and varanids are homologous, female heterogamety may be ancestral for the whole Anguimorpha group. Moreover, we found that the karyotype of the Gila monster consists of 2n = 36 chromosomes (14 larger metacentric chromosomes and 22 acrocentric microchromosomes). 2n = 36 is the widely distributed chromosomal number among squamates. In his pioneering works representing the only previous cytogenetic examination of the family Helodermatidae, Matthey reported the karyotype as 2n = 38 and suggested a different chromosomal morphology for this species. We believe that this was probably erroneously. We also discovered a strong accumulation of telomeric sequences on several pairs of microchromosomes in the Gila monster, which is a trait documented relatively rarely in vertebrates. These new data fill an important gap in our understanding of the sex determination and karyotype evolution of squamates.

The sex chromosomes of frogs: variability and tolerance offer clues to genome evolution and function.

Frog sex chromosomes offer an ideal system for advancing our understanding of genome evolution and function because of the variety of sex determination systems in the group, the diversity of sex chromosome maturation states, the ease of experimental manipulation during early development. After briefly reviewing sex chromosome biology generally, we focus on what is known about frog sex determination, sex chromosome evolution, and recent, genomics-facilitated advances in the field. In closing we highlight gaps in our current knowledge of frog sex chromosomes, and suggest priorities for future research that can advance broad knowledge of gene dose and sex chromosome evolution.

Temperature‐dependent sex determination: A mechanistic approach

AbstractA variety of sex determination systems exists in reptiles, including temperature‐dependent sex determination (TSD). While the precise physiological basis of TSD is unknown, numerous past studies have provided a general characterization of this phenomenon. The period of thermosensitivity encompasses the middle one third to one half of embryonic development. It has been shown that in several species of reptiles this period starts prior to (histologically defined) gonadal differentiation and extends to a time when sex specific changes are becoming evident in the gonads. During the thermosensitive period, sex determination is sensitive to both the magnitude and duration of a given incubation temperature. Further, the treatment of developing eggs with specific steroid hormones (in particular, estrogens) has been shown to override the effects of male‐producing temperatures and induce female sex determination. This has led to a variety of studies investigating whether the production of estrogens may be naturally involved in TSD. The results from several studies are consistent with the hypothesis that temperature could be affecting endogenous estrogen production by controlling the production of aromatase. However, the results from other studies are not consistent with this hypothesis. Current studies by a variety of research laboratories are now addressing the estrogen hypothesis as well as TSD in general at various physiological and molecular levels. As such, these studies should provide a wealth of data on the physiological basis of TSD. © 1994 Wiley‐Liss, Inc.