Genetic Sexes Research Articles

Development of DNA Insertion-specific Markers Based on the Intron Region of Oplegnathus punctatus itih4b for Genetic Sex Identification.

Spotted knifejaw (Oplegnathus punctatus) is a significant marine fish species that exhibits pronounced sexual dimorphism, with males generally exhibiting greater weight and growth rates than females. Therefore, the farming of O. punctatus with a high proportion of males is beneficial for improving the quality and efficiency of the O. punctatus aquaculture industry. Furthermore, the development of a rapid technique in sexing O. punctatus fry will facilitate the selection and breeding of superior male varieties of O. punctatus. In this study, genome-wide scanning, comparative genomics, and structural variation analysis methods were employed to identify and extract the homologous region of the inter-alpha-trypsin inhibitor heavy chain 4 (itih4b) gene on the X and Y chromosomes from the complete genome sequence of O. punctatus. This analysis revealed the presence of a large segment of DNA insertion markers on the Y chromosome in the region. Itih4b plays an important role in the mechanisms that regulate inflammatory and immune responses in multicellular organisms. The method described here involved the design of a pair of primers to amplify two bands of 532bp and 333bp in males (individuals with DNA insertion variants in the intron of the itih4b gene). In females (individuals without DNA insertion), only one band of 333bp could be distinguished by agarose gel electrophoresis. This method shortened the time required to accurately characterize intronic DNA insertion variants and genetic sexes in O. punctatus, thereby improving detection efficiency. This study has significant value for the large-scale breeding of O. punctatus all-male seedlings and provides a reference point for the study of intron variation regulation and RNA shearing in the itih4b gene.

Has recombination changed during the recent evolution of the guppy Y chromosome?

Genome sequencing and genetic mapping of molecular markers have demonstrated nearly complete Y-linkage across much of the guppy (Poecilia reticulata) XY chromosome pair. Predominant Y-linkage of factors controlling visible male-specific coloration traits also suggested that these polymorphisms are sexually antagonistic (SA). However, occasional exchanges with the X are detected, and recombination patterns also appear to differ between natural guppy populations, suggesting ongoing evolution of recombination suppression under selection created by partially sex-linked SA polymorphisms. We used molecular markers to directly estimate genetic maps in sires from 4 guppy populations. The maps are very similar, suggesting that their crossover patterns have not recently changed. Our maps are consistent with population genomic results showing that variants within the terminal 5 Mb of the 26.5 Mb sex chromosome, chromosome 12, are most clearly associated with the maleness factor, albeit incompletely. We also confirmed occasional crossovers proximal to the male-determining region, defining a second, rarely recombining, pseudo-autosomal region, PAR2. This fish species may therefore have no completely male-specific region (MSY) more extensive than the male-determining factor. The positions of the few crossover events suggest a location for the male-determining factor within a physically small repetitive region. A sex-reversed XX male had few crossovers in PAR2, suggesting that this region's low crossover rate depends on the phenotypic, not the genetic, sex. Thus, rare individuals whose phenotypic and genetic sexes differ, and/or occasional PAR2 crossovers in males can explain the failure to detect fully Y-linked variants.

Histological analysis of early gonadal development in three bird species reveals gonad asymmetry from the beginning of gonadal ridge formation and a similar course of sex differentiation

The developing gonads constitute a valuable model for studying developmental mechanisms because the testes and ovaries, while originating from the same primordia, undergo two different patterns of development. So far, gonadal development among birds has been described in detail in chickens, but literature on the earliest stages of gonadogenesis is scarce. This study presents changes in the structure of the gonads in three species of breeding birds (chicken, duck, and pigeon), starting from the first signs of gonadal ridge formation, that is, the thickenings of the coelomic epithelium. It appears that both gonads show asymmetry from the very beginning of gonadal ridge formation in both genetic sexes. The left gonadal ridge is thicker than the right one, and it is invaded by a higher number of primordial germ cells. Undifferentiated gonads, both left and right, consist of the primitive cortex and the medulla. The primitive cortex develops from the thickened coelomic epithelium, while the primitive medulla – by the aggregation of mesenchymal cells. This study also describes the process of sex differentiation of the testes and ovaries, which is initiated at the same embryonic stage in all three studied species. The first sign of gonadal sex differentiation is the decrease in the number of cortical germ cells and a reduction in cortical thickness in the differentiating testes. This is followed by an increase in the number of germ cells in the medulla. The cortical asymmetry and difference in size between the left and right testes diminishes during later development. However, the differentiating left ovary shows an increase in the number of cortical germ cells and cortical thickness. No regression is seen in the right ovary, although its development is slower. The right ovarian cortex undergoes testis-specific reduction, while the medulla undergoes ovary-specific development. The process of gonadogenesis is similar in the three studied species, with only slight differences in gonadal structure.

The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records

BackgroundAlthough polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been conducted in research ascertained populations. We aimed to identify the psychiatric and physical conditions associated with autism PGS in a health care setting.MethodsWe computed PGS for 12,383 unrelated participants of African genetic ancestry (AF) and 65,363 unrelated participants of European genetic ancestry (EU) from Vanderbilt’s de-identified biobank. Next, we performed phenome wide association studies of the autism PGS within these two genetic ancestries.ResultsSeven associations surpassed the Bonferroni adjusted threshold for statistical significance (p = 0.05/1374 = 3.6 × 10−5) in the EU participants, including mood disorders (OR (95%CI) = 1.08(1.05 to 1.10), p = 1.0 × 10−10), autism (OR (95%CI) = 1.34(1.24 to 1.43), p = 1.2 × 10–9), and breast cancer (OR (95%CI) = 1.09(1.05 to 1.14), 2.6 × 10−5). There was no statistical evidence for PGS-phenotype associations in the AF participants. Conditioning on the diagnosis of autism or on median body mass index (BMI) did not impact the strength of the reported associations. Although we observed some sex differences in the pattern of associations, there was no significant interaction between sex and autism PGS. Finally, the associations between autism PGS and autism diagnosis were stronger in childhood and adolescence, while the associations with mood disorders and breast cancer were stronger in adulthood.DiscussionOur findings indicate that autism PGS is not only related to autism diagnosis but may also be related to adult-onset conditions, including mood disorders and some cancers.ConclusionsOur study raises the hypothesis that genes associated with autism may also increase the risk for cancers later in life. Future studies are necessary to replicate and extend our findings.

312. The Physical and Psychiatric Comorbidities of Autism Genetic Score, Across Two Genetic Ancestries, Sexes and Age-Groups in the Electronic Health Records

312. The Physical and Psychiatric Comorbidities of Autism Genetic Score, Across Two Genetic Ancestries, Sexes and Age-Groups in the Electronic Health Records

Body yield and quality of fresh and post-freezing filet of Nile tilapia (Oreochromis niloticus) genetic groups.

The aim of this study was to evaluate the body yield and quality of fresh and post-freezing filet of male and female fish of inbred and non-inbred AquaAmérica genetic group and the hybrid between the AquaAmérica and Tilamax varieties. Forty fish (20 males and 20 females) of each genetic group were housed in four 48-m3 hapa net cages, getting 120 fish per cage. The fish were housed at 51 days of age and farmed for 269 days. Pre-slaughter weight was higher (P<0.05) in the AquaAmérica × Tilamax males (0.805±0.204 kg) than in the inbred AquaAmérica male (0.643±0.115 kg). Filet yield percentage was higher (P<0.05) in the AquaAmérica × Tilamax males (32.14±4.72%) than in the inbred AquaAmérica (28.15±2.67%) and non-inbred AquaAmérica (29.06±2.80%) males. Head and viscera yield percentages, pH, color values (L*, a* and b*), shear force, drip loss and cooking loss did not differ significantly between the genetic groups and sexes. Alterations in meat quality were observed after freezing. In conclusion, inbreeding in the AquaAmérica variety resulted in reduced slaughter weight for males; AquaAmérica × Tilamax males have a higher filet yield; and filet quality is not influenced by crossing, inbreeding, or sex, but is changed after freezing.

Characterization of sex locus and sex-specific sequences in the mandarin fishes

Sex determination of teleost fish switched frequently. Sex markers are especially practical in identifying early sex and helpful in generating mono-sex population in aquatic species. And sex determination in mandarin fishes is still unclear. In this study, we applied a pool-sequencing approach to better characterize sex-specific markers and sex determination in mandarin fishes. Using genome comparative analysis, we identified significant sex differentiated region (~5.0 Mb) and sex chromosome (LG2) in Siniperca chuatsi. Similar sex-differentiated regions were also identified on LG4 in other mandarin fishes including Siniperca knerii, Siniperca scherzeri, and Coreoperca whiteheadi. These non-recombining regions contained high-density of male-biased genetic polymorphisms accompanied with male-biased fragments (~ 23 kb in total). Meanwhile, sequence synteny analysis showed that whole genomes, including sex chromosomes and even sex-differentiated regions among these species were in good synteny. In addition, the sex-differentiated region harbored 124 genes without “usual suspects” sex determining genes. Based on this genetic information, we successfully developed male-specific genetic markers for mandarin fishes. And genotyping results showed phenotypic sexes were strongly linked to its genetic sexes in one Siniperca chuatsi population. Our results exhibited that sex-differentiated regions and sex chromosomes were relatively conserved in the four mandarin fishes. All the four mandarin fishes were identified to utilize a male heterogametic (XX-XY) sex determination system. Besides, we also developed sex-linked genetic markers. Our study will facilitate future research on sex determination and aquaculture applications in mandarin fishes.

High Polymorphism in the Dmrt2a Gene Is Incompletely Sex-Linked in Spotted Scat, Scatophagus argus.

Simple SummaryFishes have relatively younger chromosomes than mammals and birds, making them excellent models to study sex chromosome differentiation in teleosts. The spotted scat has a young chromosome, making it an ideal model to study the evolution of sex chromosomes in vertebrates. The doublesex and Mab-3-related transcription factor 1 (Dmrt1) is the candidate sex determination gene in spotted scat, while the differentiation of other sex-linked genes remains unknown. Dmrt2a is positioned close to Dmrt3 and farther away from Dmrt1 on the same chromosome, while Dmrt2b is not. Dmrt2a is highly expressed in testicular tissues, with several intronic and exonic mutations that do not affect gene translation. Using intronic markers, we found in 4 different populations that Dmrt2a is incompletely sex-linked. Incomplete sex linkage of markers suggests the absence of recombination depression in this region and indicates that the system of sex chromosomes is still young. This suggests that Dmrt2a might be necessary for developmental processes. Other possibilities are that the conservation differences between Dmrt1, Dmrt3, and Dmrt2a might be due to gene dosage effect, or specialization of truncated copies of Dmrt1 and Dmrt3 in the regulation of normal gene copies. The partial sex linkage of Dmrt2a suggests an excellent model for studying sex-linked gene differentiation during vertebrate evolution. Therefore, further studies are needed to identify the regulators of Dmrt2a expression, sequences of X and Y copies, and their functions in spotted scat.Unlike mammals and birds, many fishes have young sex chromosomes, providing excellent models to study sex chromosome differentiation at early stages. Previous studies showed that spotted scat possesses an XX-XY sex determination system. The X has a complete Dmrt3 copy (termed normal) and a truncated copy of Dmrt1 (called Dmrt1b), while the Y has the opposite (normal Dmrt1, which is male-specific, and a truncated Dmrt3 called Dmrt3△-Y). Dmrt1 is the candidate sex determination gene, while the differentiation of other sex-linked genes remains unknown. The spotted scat has proven to be a good model to study the evolution of sex chromosomes in vertebrates. Herein, we sequenced a neighbor gene of this family, Dmrt2, positioned farther from Dmrt1 and closer to Dmrt3 in the spotted scat, and analyzed its sequence variation and expression profiles. The physical locations of the three genes span across an estimated size of >40 kb. The open reading frames of Dmrt2a and its paralog Dmrt2b are 1578 bp and 1311 bp, encoding peptides of 525 and 436 amino acid residues, respectively. Dmrt2a is positioned close to Dmrt3 but farther from Dmrt1 on the same chromosome, while Dmrt2b is not. Sequence analysis revealed several mutations; insertions, and deletions (indels) on Dmrt2a non-coding regions and single-nucleotide polymorphisms (SNPs) on the Dmrt2a transcript. These indels and SNPs are sex-linked and showed high male heterogeneity but do not affect gene translation. The markers designed to span the mutation sites tested on four different populations showed varied concordance with the genetic sexes. Dmrt2a is transcribed solely in the gonads and gills, while Dmrt2b exists in the gonads, hypothalamus, gills, heart, and spleen. The Dmrt2a and Dmrt2b transcripts are profoundly expressed in the male gonads. Analyses of the transcriptome data from five other fish species (Hainan medaka (Oryzias curvinotus), silver sillago (Sillago sihama), Nile tilapia (Oreochromis niloticus), Hong Kong catfish (Clarias fuscus), and spot-fin porcupine fish (Diodon hystrix)) revealed testes-biased expression of Dmrt1 in all, similar to spotted scat. Additionally, the expression of Dmrt2a is higher in the testes than the ovaries in spotted scat and Hainan medaka. The Dmrt2a transcript was not altered in the coding regions as found in Dmrt1 and Dmrt3 in spotted scat. This could be due to the functional importance of Dmrt2a in development. Another possibility is that because Dmrt2a is positioned farther from Dmrt1 and the chromosome is still young, meaning it is only a matter of time before it differentiates. This study undeniably will aid in understanding the functional divergence of the sex-linked genes in fish.

Sheep meat production in the Brazilian semi-arid region: crossing between indigenous breeds.

Investigations in the Brazilian semi-arid region evaluating the performance and carcass traits of sheep of indigenous breeds and their crossings have been performed; however, these studies use exotic breeds which produce precocious lambs with heavier carcasses, but not adapted to climatic conditions and the extensive production system, jeopardizing the sustainability of the sheep production system. We crossed between three indigenous breeds: Morada Nova (MN - maternal breed); Rabo Largo (RL - paternal breed), and Santa Inês (SI - paternal breed) with the objective of evaluating the effect of genotype and sex on the performance and carcass traits of purebred and crossbred animals. A total of 30 lambs, males and females, reared in a semi-intensive system were evaluated. Birth and weaning weights were 2.26 ± 0.53 and 7.31 ± 1.85, respectively. All lambs were slaughtered at 10months of age. A completely randomized design in a 3 × 2 factorial scheme (three genotypes and two sexes) was used. Multivariate techniques were also performed to reduce group and discriminate variables. Birth and weaning weight were similar (P > 0.05) among genetic groups and sexes. The weight gain, carcass and morphometric trait characteristics, and the main commercial cuts were higher in crossbred lambs (P < 0.05). All indicators have discriminatory power between genotypes and sexes, but the carcass traits have a higher discriminatory power (P < 0.001). All genotypes, regardless of sex, have particular characteristics, i.e. MN × SI was characterized by greater forelimb and ham perimeters (P < 0.001), and the MN × RL by higher hot carcass weight and finish (P = 0.001). The cluster analysis and the heatmap plot revealed associations between SI and the size of cuts and RL with the cut commercial yield and the reduction in weight loss due to cooling. Our findings confirm the hypothesis that crossing between indigenous breeds represents an adequate alternative in sheep meat production systems in semi-arid regions. Finally, we encourage the use of indigenous breeds for sheep meat production with breed identity in order to favor the conservation of genetic resources and the sustainability of the production system.

Effects of synthetic sex steroid hormone exposures on gonadal sex differentiation and dynamics of a male-related gene, Gonadal soma-derived factor (Gsdf) and an estrogen up-regulated gene, Choriogenine-H (ChgH) gene expression in the euryhaline Javafish medaka, Oryzias javanicus, based on genetic sexes

To clarify the basal aspects of sexual development in Javafish medaka, Oryzias javanicus (ZZ/ZW), a model marine species for ecotoxicity testing, we examined the details of gonadal sex differentiation and exogenous sex hormone-dependent sex reversals using genetic sex-linked DNA markers. Sex differences in germ cell numbers were observed at 5 days post hatching (dph), in which there was a significant increase in the germ cells of ZW. In ZW, diplotene oocytes and the ovarian cavity appeared at approximately 10, and 30 dph, respectively. In ZZ, spermatogonial proliferation was observed at approximately 20 dph. A ZZ-dominant expression of Gonadal soma-derived factor (Gsdf) mRNA was detected before hatching. The exposure of embryos to 17α-ethinylestradiol (EE2; 0.1, 1, 10 ng/mL) did not cause sex reversals in most cases. However, EE2 exposures led to significant Choriogenin-H (ChgH) mRNA expression, an estrogen up-regulated gene, in all fry; these exposures did not suppress Gsdf expression in ZZ fry. The exposure of embryos to 17α-methyltestosterone (MT; 0.1, 1, 10 ng/mL) caused sex reversals but only at low frequencies in ZW and ZZ fish. Although the 10 ng/mL MT exposure was accompanied by induction of significant Gsdf expression in ZW fry, induction of ChgH expression was also observed in several fry. Together, the present study indicates for the first time that male-dominant sexual dimorphic expression of Gsdf precedes the first morphological sex difference, i.e., the sex difference in germ cell number, and results strongly suggest that exogenous sex hormone-dependent sex reversal is not induced easily in O. javanicus.

Sexually Dimorphic Growth Stimulation in a Strain of Growth Hormone Transgenic Coho Salmon (Oncorhynchus kisutch)

Growth hormone (GH) transgenic fish often exhibit remarkable transformations in growth rate and other phenotypes relative to wild-type. The 5750A transgenic coho salmon strain exhibits strong sexually dimorphic growth, with females possessing growth stimulation at a level typical of that seen for both sexes in other strains harbouring the same gene construct (e.g. M77), while males display a modest level of growth stimulation. GH mRNA levels were significantly higher in females than in males of the 5750A strain but equivalent in the M77 strain, indicating sex and transgene insertion locus altered transgene expression. We found that acute estradiol treatments did not influence GH expression in either strain (5750A and M77) or the transgene promoter (metallothionein-B), suggesting that estradiol level was not a significant factor influencing transgene activity. The feminization of XX and XY fish of the 5750A and M77 strains generated all-female groups and resulted in equalized growth of the two genetic sexes, suggesting that the presence of the Y chromosome was not directly capable of influencing the GH transgene–mediated growth in a physiological female conditions. These data suggest that the difference in growth rate seen between the sexes in the 5750A strain arises from non-estradiol-mediated sex influences on gene regulation at the transgene locus. This study shows how genetic factors and transgene insertion sites can influence transgene expression with significant consequent effects on phenotype.

Genotype and sex-based host variation in behaviour and susceptibility drives population disease dynamics.

Host heterogeneity in pathogen transmission is widespread and presents a major hurdle to predicting and minimizing disease outbreaks. Using Drosophila melanogaster infected with Drosophila C virus as a model system, we integrated experimental measurements of social aggregation, virus shedding, and disease-induced mortality from different genetic lines and sexes into a disease modelling framework. The experimentally measured host heterogeneity produced substantial differences in simulated disease outbreaks, providing evidence for genetic and sex-specific effects on disease dynamics at a population level. While this was true for homogeneous populations of single sex/genetic line, the genetic background or sex of the index case did not alter outbreak dynamics in simulated, heterogeneous populations. Finally, to explore the relative effects of social aggregation, viral shedding and mortality, we compared simulations where we allowed these traits to vary, as measured experimentally, to simulations where we constrained variation in these traits to the population mean. In this context, variation in infectiousness, followed by social aggregation, was the most influential component of transmission. Overall, we show that host heterogeneity in three host traits dramatically affects population-level transmission, but the relative impact of this variation depends on both the susceptible population diversity and the distribution of population-level variation.

Sex Chromosomes and Sex Phenotype Contribute to Biased DNA Methylation in Mouse Liver.

Sex biases in the genome-wide distribution of DNA methylation and gene expression levels are some of the manifestations of sexual dimorphism in mammals. To advance our understanding of the mechanisms that contribute to sex biases in DNA methylation and gene expression, we conducted whole genome bisulfite sequencing (WGBS) as well as RNA-seq on liver samples from mice with different combinations of sex phenotype and sex-chromosome complement. We compared groups of animals with different sex phenotypes, but the same genetic sexes, and vice versa, same sex phenotypes, but different sex-chromosome complements. We also compared sex-biased DNA methylation in mouse and human livers. Our data show that sex phenotype, X-chromosome dosage, and the presence of Y chromosome shape the differences in DNA methylation between males and females. We also demonstrate that sex bias in autosomal methylation is associated with sex bias in gene expression, whereas X-chromosome dosage-dependent methylation differences are not, as expected for a dosage-compensation mechanism. Furthermore, we find partial conservation between the repertoires of mouse and human genes that are associated with sex-biased methylation, an indication that gene function is likely to be an important factor in this phenomenon.

Influence of Genetic Background and Sex on Gene Expression in the Mouse (Mus musculus) Tail in a Model of Intervertebral Disc Injury.

To facilitate rational experimental design and fulfill the NIH requirement of including sex as a biologic variable, we examined the influences of genetic background and sex on responses to intervertebral disc (IVD) injury in the mouse tail. The goal of this study was to compare gene expression and histologic changes in response to a tail IVD injury (needle puncture) in male and female mice on the DBA and C57BL/6 (B6) backgrounds. We hypothesized that extracellular matrix gene expression in response to IVD injury differs between mice of different genetic backgrounds and sex. Consistent changes were detected in gene expression and histologic features after IVD injury in mice on both genetic backgrounds and sexes. In particular, expression of col1a1 and adam8 was higher in the injured IVD of DBA mice than B6 mice. Conversely, col2a1 expression was higher in B6 mice than DBA mice. Sex-associated differences were significant only in B6 mice, in which col2a1 expression was greater in male mice than in female. Histologic differences in response to injury were not apparent between DBA and B6 mice or between males and females. In conclusion, mouse tail IVD showed sex- and strain-related changes in gene expression and histology after needle puncture. The magnitude of change in gene expression differed with regard to genetic background and, to a lesser degree, sex.

Modelling of growth alteration in Japanese quail after a selection experiment for body weight at 4 weeks of age

AbstractThe current study investigated the influence of selection for body weight (BW) on growth curve parameters in two lines of Japanese quail through a mixed model approach. Live BWs of 1400 Japanese quail were recorded at 3-day intervals from hatching to 42 days of age. Birds were distributed equally across lines (selected and control) and sexes (male and female). The asymptotic weight parameter (β0) values were always higher in Gompertz than Richards models in both lines. The values ofβ0were higher in the selected than control lines and in females than males across models. Differences were found in the inflection point for age and weight across lines and sexes. Values of the growth rate parameter (β2) ranged from 0.06 to 0.10 in both models, favouring males over females in both lines. Lower weights at the inflection point of both models were observed in the control line. Determination coefficient (R2) of both models in different genetic groups and sexes was similar. Mean square error (MSE) values of the Gompertz model were lower for females in selectedv.control lines. In contrast, MSE values of the Richards model were lower for selected malesv.control males. According to the criteria of choice (highestR2and lowest MSE, Akaike information criterion and Bayesian information criterion), the Richards model was considered the best fitting model for the growth data of males, while the Gompertz model was the best for growth data of female quails in both lines.

Renal Subcapsular xenografing of human fetal external genital tissue – A new model for investigating urethral development

In this paper, we introduce our novel renal subcapsular xenograft model for the study of human penile urethral and clitoral development. We grafted fifteen intact fetal penes and clitorides 8–11 weeks fetal age under the renal capsules of gonadectomized athymic mice. The mice were treated with a subcutaneous pellet of dihydrotestosterone (DHT), diethylstilbestrol (DES) or untreated with hormones. Xenografts were harvested after fourteen days of growth and analyzed via serial histologic sectioning and immunostaining for Ki-67, cytokeratins 6, 7 and 10, uroplakin and the androgen receptor. Non-grafted specimens of similar fetal age were sectioned and immunostained for the same antigenic markers. 14/15 (93.3%) grafts were successfully propagated and harvested. The developing urethral plate, urethral groove, tubular urethra, corporal bodies and preputial lamina were easily identifiable. These structures demonstrated robust cellularity, appropriate architecture and abundant Ki-67 expression. Expression patterns of cytokeratins 6, 7 and 10, uroplakin and the androgen receptor in xenografted specimens demonstrated characteristic male/female differences analogous to non-grafted specimens. DHT treatment reliably produced tubularization of nascent urethral and vestibular structures and male patterns of androgen receptor expression in grafts of both genetic sexes while estrogenic or hormonally absent conditions reliably resulted in a persistent open urethral/vestibular groove and female patterns of androgen receptor expression. This model's success enables further study into causal pathways by which endocrine-disrupting and endocrine-mimicking substances may directly cause disruption of normal human urethral development or hypospadias.

Recovery of gonadal development in tiger puffer Takifugu rubripes after exposure to 17β-estradiol during early life stages

The aim of the present study was to investigate the long-term effects of 17β-estradiol (E2) exposure on gonadal development in the tiger puff er (Takifugu rubripes), which has a genetic sex determination system of male homogametic XY-XX. Tiger puff er larvae were exposed to 1, 10 and 100 μg/L E2 from 15 to 100 days post-hatch (dph) and then maintained in clean seawater until 400 dph. Changes in sex ratio, gonadal structure and gonadosomatic index (GSI) were monitored at 100, 160, 270 and 400 dph. Sex-associated single nucleotide polymorphism (SNP) markers were used to analyze the genetic sex of samples, except those at 100 dph. Exposure had a positive effect on the conversion of genetically male gonads into phenotypically female gonads at 100 dph. However, gonads from 60% of genetic XY males in the 1-μg/L E2 group and 100% in the 10-μg/L E2 group developed intersexual gonads at 160 dph; gonads of all genetic XY males in the two treatment groups reverted to testis by 270 dph. While 38%, 57% and 44% of gonads of XY fish in the 100-μg/L E2 group reverted to intersexual gonads at 160, 270 and 400 dph, respectively, none reverted to testis after E2 treatment. In addition, E2 exposure inhibited gonadal growth of both genetic sexes, as indicated by the clear dose-dependent decrease in GSI at 270 and 400 dph. The results showed that exposure to E2 during the early life stages of tiger puff er disrupted gonadal development, but that fish recovered after migration to clean seawater. The study suggests the potential use of tiger puff er as a valuable indicator species to evaluate the effects of environmental estrogens on marine fish, thereby protecting valuable fishery resources.

Overexpression of Anti-Müllerian Hormone Disrupts Gonadal Sex Differentiation, Blocks Sex Hormone Synthesis, and Supports Cell Autonomous Sex Development in the Chicken.

The primary role of Anti-Müllerian hormone (AMH) during mammalian development is the regression of Müllerian ducts in males. This highly conserved function is retained in birds and is supported by the high levels of AMH expression in developing testes. Mammalian AMH expression is regulated by a combination of transcription factors, the most important being Sry-type high-mobility-group box transcription factor-9 (SOX9). In the chicken embryo, however, AMH mRNA expression precedes that of SOX9, leading to the view that AMH may play a more central role in avian testicular development. To define its role in chicken gonadal development, AMH was overexpressed using the RCASBP viral vector. AMH caused the gonads of both sexes to develop as small and undeveloped structures at both embryonic and adult stages. Molecular analysis revealed that although female gonads developed testis-like cords, gonads lacked Sertoli cells and were incapable of steroidogenesis. A similar gonadal phenotype was also observed in males, with a complete loss of both Sertoli cells, disrupted SOX9 expression and gonadal steroidogenesis. At sexual maturity both sexes showed a female external phenotype but retained sexually dimorphic body weights that matched their genetic sexes. These data suggest that AMH does not operate as an early testis activator in the chicken but can affect downstream events, such as sex steroid hormone production. In addition, this study provides a unique opportunity to assess chicken sexual development in an environment of sex hormone deficiency, demonstrating the importance of both hormonal signaling and direct cell autonomous factors for somatic sex identity in birds.

No evidence of sexual niche partitioning in a dioecious moss with rare sexual reproduction.

Roughly half of the species of bryophytes have separate sexes (dioecious) and half are hermaphroditic (monoecious). This variation has major consequences for the ecology and evolution of the different species. In some sexually reproducing dioecious bryophytes, sex ratio has been shown to vary with environmental conditions. This study focuses on the dioecious wetland moss Drepanocladus trifarius, which rarely produces sexual branches or sporophytes and lacks apparent secondary sex characteristics, and examines whether genetic sexes exhibit different habitat preferences, i.e. whether sexual niche partitioning occurs. A total of 277 shoots of D. trifarius were randomly sampled at 214 locations and 12 environmental factors were quantified at each site. Sex was assigned to the individual shoots collected in the natural environments, regardless of their reproductive status, using a specifically designed molecular marker associated with female sex. Male and female shoots did not differ in shoot biomass, the sexes were randomly distributed with respect to each other, and environmental conditions at male and female sampling locations did not differ. Collectively, this demonstrates a lack of sexual niche segregation. Adult genetic sex ratio was female-biased, with 2·8 females for every male individual. The results show that although the sexes of D. trifarius did not differ with regard to annual growth, spatial distribution or habitat requirements, the genetic sex ratio was nevertheless significantly female-biased. This supports the notion that factors other than sex-related differences in reproductive costs and sexual dimorphism can also drive the evolution of biased sex ratios in plants.

46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma.

Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y-chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present study reports a unique case of a phenotypically normal female (age 17 years), presenting with primary amenorrhea and later diagnosed with 46,XY female sex reversal syndrome. Following bilateral gonadectomy, bilateral gonadoblastoma and dysgerminoma were diagnosed. Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and to prevent osteoporosis. A four year follow-up showed no tumor recurrence and a regular menstrual cycle in this patient.