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Abstract Gonad development includes sex determination and divergent maturation of the testes and ovaries. Recent advances in measuring gene expression in single cells are providing new insights into this complex process. However, the underlying epigenetic regulatory mechanisms remain unclear. Here, we profiled chromatin accessibility in mouse gonadal cells of both sexes from embryonic day 11.5 to 14.5 using single-cell assay for transposase accessible chromatin by sequencing (scATAC-seq). Our results showed that individual cell types can be inferred by the chromatin landscape, and that cells can be temporally ordered along developmental trajectories. Integrative analysis of transcriptomic and chromatin-accessibility maps identified multiple putative regulatory elements proximal to key gonadal genes Nr5a1, Sox9 and Wt1. We also uncover cell type-specific regulatory factors underlying cell type specification. Overall, our results provide a better understanding of the epigenetic landscape associated with the progressive restriction of cell fates in the gonad.

Abstract Background Digital tools, which offer superior accuracy compared to manual metrics, utilize radiological images for noninvasive data collection, providing a convenient means of obtaining skeletal data. The greater sciatic notch exhibits high sexual dimorphism and resistance to damage, and therefore serves as a viable tool for sex determination in poorly preserved skeletons, particularly in scenarios involving mass disasters, highly putrefied, and skeletonized cases. In addition to the width and depth of the greater sciatic notch, the length and angle of the posterior segment are highly specific parameters. This study aims to obtain accurate and standardized values for determining sex by measuring the posterior segment of the greater sciatic notch using postmortem computed tomography with a 16-slice multidetector row computed tomography scanner. Results The study revealed that except for depth and the distance between the ischial spine and deepest point, all measured variables of the greater sciatic notch were greater for women than men on both sides. The length of the posterior segment and the posterior angle on both sides showed the highest positive correlation and provided highly significant differences between males and females. These findings not only reinforce the utility of the greater sciatic notch in sex determination but also highlight the potential for more accurate and noninvasive methods in forensic investigations. Conclusions Postmortem computed tomography accurately determines sex by measuring the posterior sciatic notch segment, achieving a 90.9% accuracy rate. This study, the first of its kind in India, utilized postmortem computed tomography ruler measurements for sex determination, specifically evaluating the role of the posterior segment dimensions of the greater sciatic notch in the North Indian population.

Gonadal soma-derived factor (Gsdf) is a member of the transforming growth factor beta (TGF-β) superfamily and a teleost-specific gene. Early studies suggested that Gsdf promotes spermatogonial proliferation; however recent reports have shed light on its role in sex differentiation based on expression profiles and gain- and loss-of-function studies. This paper discusses the involvement of Gsdf in gonadal sex differentiation and sex changes in teleosts.

Abstract The present study tested the combination of mandibular and dental dimensions for sex determination using machine learning. Lateral cephalograms and dental casts were used to obtain mandibular and mesio-distal permanent teeth dimensions, respectively. Univariate statistics was used for variables selection for the supervised machine learning model (alpha = 0.05). The following algorithms were trained: logistic regression, gradient boosting classifier, k-nearest neighbors, support vector machine, multilayer perceptron classifier, decision tree, and random forest classifier. A threefold cross-validation approach was adopted to validate each model. The areas under the curve (AUC) were computed, and ROC curves were constructed. Three mandibular-related measurements and eight dental size-related dimensions were used to train the machine learning models using data from 108 individuals. The mandibular ramus height and the lower first molar mesio-distal size exhibited the greatest predictive capability in most of the evaluated models. The accuracy of the models varied from 0.64 to 0.74 in the cross-validation stage, and from 0.58 to 0.79 when testing the data. The logistic regression model exhibited the highest performance (AUC = 0.84). Despite the limitations of this study, the results seem to show that the integration of mandibular and dental dimensions for sex prediction would be a promising approach, emphasizing the potential of machine learning techniques as valuable tools for this purpose.

Abstract Background For over a century, anthropometric techniques, widely used by anthropologists and adopted by medical scientists, have been utilized for predicting stature and sex. This study, conducted on a Eastern Turkish sample, aims to predict sex and stature using foot measurements through linear methods and Artificial Neural Networks. Our research was conducted on 134 medical students, comprising 69 males and 65 females. Stature and weight were measured in a standard anatomical position in the Frankfurt Horizontal Plane with a stadiometer of 0.1 cm precision. Measurements of both feet's height, length, and breadth were taken using a Vernier caliper, osteometric board, and height scale. The data were analyzed using SPSS 26.00. Results It was observed that all foot dimensions in males were significantly larger than in females. Sex prediction using linear methods yielded an accuracy of 94.8%, with a stature estimation error of 4.15 cm. When employing Artificial Neural Networks, sex prediction accuracy increased to 97.8%, and the error in stature estimation was reduced to 4.07 cm. Conclusions Our findings indicate that Artificial Neural Networks can work more effectively with such data. Using Artificial Neural Networks, the accuracy of sex prediction for both feet exceeded 95%. Additionally, the error in stature estimation was reduced compared to the formulas obtained through linear methods.

Abstract Background Aphallia is a rare congenital anomaly often associated with other urogenital anomalies. The management of aphallia cases for both the immediate and long-term treatment of patients with aphallia pose a major dilemma. Patients are at risk for psychosocial and psychosexual challenges throughout life. Methods A systematic review was conducted on aphallia cases. We searched online databases until March 2023 for relevant articles and performed according to the PRISMA-P guidelines. Results Of the 43 articles screened, there were 33 articles included. A total of 41 patients were analyzed qualitatively. Asia is the region with the most aphallia cases with 53% (n:22), while the United States is the country with the most most reported aphallia cases 31% (n:13). Most cases were identified as male sex (n: 40), and most cases were neonate with 68% (n:28) cases. Physical examination generally found 85% (N = 35) with normal scrotal development and palpable testes. The most affected system with anomalies is the genitourinary system with fistulas in 80% (n:29) cases. Initial management in 39% (n:16) of patients involved vesicostomy. Further management of 31% (n:13) included phalloplasty or penile reconstruction, and 12% (n:5) chose female sex. 17% (n:7) of patients refused medical treatment or were lost to follow-up, and 12% (n = 5) patients deceased. Conclusion Aphallia is a rare condition and is often associated with other inherited genitourinary disorders. In most cases, physical examinations are normal except for the absence of a phallus, and laboratory testing shows normal results. The initial management typically involves the vesicostomy procedure. Subsequent management focuses on gender determination. Currently, male sex is preferred over female. Due to the significant variability, the rarity of cases, and the lack of long-term effect reporting in many studies on aphallia, further research is needed to minimize bias.

transformer is a switch gene for sex determination in many insects, which cooperates with transformer-2 that is expressed in both sexes to regulate female differentiation, particularly in dipterans. Zeugodacus cucurbitae (Coquillett) is a very destructive pest worldwide, however, its sex determination pathway remains largely uncharacterized. Here, we show that the female sex ratio is sharply reduced with knockdown of either transformer or transformer-2 by RNA interference in early embryos of Z. cucurbitae. Most of the males grown from the embryos with transient transformer and transformer-2 suppression mated with wild-type females and produced mixed sex progeny, with one exception that produced only female progeny, and all of the few remaining males failed to mate with wild-type females and produced no progeny. The exceptional male and those males with mating failure were XX pseudomales as determined by the detection of Y chromosome-linked Maleness-on-the-Y, indicating that most XX pseudomales are not viable. The phenotypes of transformer and transformer-2 suggest that they play a key role in regulating sex determination and are required for female sexual development of Z. cucurbitae. Our results will be beneficial to the understanding of sex determination in Z. cucurbitae and can facilitate the development of genetic sexing strains for its biological control.

Determining the sex from an unidentified fingerprint recovered from a crime scene can assist in narrowing down the pool of potential suspects. The present study was conducted with the aim of determining sex using fingerprint epidermal ridge sweat pore density among the Indian population. For this purpose, plain prints from both the left and right thumbs were obtained from a total of 396 participants (191 males and 205 females), aged between 18 and 35 years, who were randomly selected for the study. Sweat pores were counted in a region of 3 × 3 mm2. Data were analyzed using SPSS (Statistical Product and Service Solutions) version 26 for Windows and Microsoft Office Excel 365. The likelihood ratio (LR) was calculated to obtain the probability inferences of sex based on the number of sweat pores. Analysis revealed that a fingerprint containing ≤ 45 pores/9 mm2 is more likely to be of male origin while one containing ≥ 49 pores/9 mm2 is more likely to be of female origin. Moreover, the difference in the number of pores was found to be statistically significant between the two biological sexes. The methodology employed in this study helps demarcate a uniform region in all the samples thereby eliminating variability due to pattern type and recurving ridges.

The study of the functional genome in mice and humans has been instrumental for describing the conserved molecular mechanisms regulating human reproductive biology, and for defining the etiologies of monogenic fertility disorders. Infertility is a reproductive disorder that includes various conditions affecting a couple's ability to achieve a healthy pregnancy. Recent advances in next-generation sequencing and CRISPR/Cas-mediated genome editing technologies have facilitated the identification and characterization of genes and mechanisms that, if affected, lead to infertility. We report established genes that regulate conserved functions in fundamental reproductive processes (e.g., sex determination, gametogenesis, and fertilization). We only cover genes the deletion of which yields comparable fertility phenotypes in both rodents and humans. In the case of newly-discovered genes, we report the studies demonstrating shared cellular and fertility phenotypes resulting from loss-of-function mutations in both species. Finally, we introduce new model systems for the study of human reproductive biology and highlight the importance of studying human consanguineous populations to discover novel monogenic causes of infertility. The rapid and continuous screening and identification of putative genetic defects coupled with an efficient functional characterization in animal models can reveal novel mechanisms of gene function in human reproductive tissues. [ABSTRACT FROM AUTHOR]

Background: Digital tools, which offer superior accuracy compared to manual metrics, utilize radiological images for noninvasive data collection, providing a convenient means of obtaining skeletal data. The greater sciatic notch exhibits high sexual dimorphism and resistance to damage, and therefore serves as a viable tool for sex determination in poorly preserved skeletons, particularly in scenarios involving mass disasters, highly putrefied, and skeletonized cases. In addition to the width and depth of the greater sciatic notch, the length and angle of the posterior segment are highly specific parameters. This study aims to obtain accurate and standardized values for determining sex by measuring the posterior segment of the greater sciatic notch using postmortem computed tomography with a 16-slice multidetector row computed tomography scanner. Results: The study revealed that except for depth and the distance between the ischial spine and deepest point, all measured variables of the greater sciatic notch were greater for women than men on both sides. The length of the posterior segment and the posterior angle on both sides showed the highest positive correlation and provided highly significant differences between males and females. These findings not only reinforce the utility of the greater sciatic notch in sex determination but also highlight the potential for more accurate and noninvasive methods in forensic investigations. Conclusions: Postmortem computed tomography accurately determines sex by measuring the posterior sciatic notch segment, achieving a 90.9% accuracy rate. This study, the first of its kind in India, utilized postmortem computed tomography ruler measurements for sex determination, specifically evaluating the role of the posterior segment dimensions of the greater sciatic notch in the North Indian population. [ABSTRACT FROM AUTHOR]

Auanema freiburgense is a nematode with males, females, and selfing hermaphrodites. When XO males mate with XX females, they typically produce a low proportion of XO offspring because they eliminate nullo-X spermatids. This process ensures that most sperm carry an X chromosome, increasing the likelihood of X chromosome transmission compared to random segregation. This occurs because of an unequal distribution of essential cellular organelles during sperm formation, likely dependent on the X chromosome. Some sperm components are selectively segregated into the X chromosome's daughter cell, while others are discarded with the nullo-X daughter cell. Intriguingly, the interbreeding of 2 A. freiburgense strains results in hybrid males capable of producing viable nullo-X sperm. Consequently, when these hybrid males mate with females, they yield a high percentage of male offspring. To uncover the genetic basis of nullo-spermatid elimination and X chromosome drive, we generated a genome assembly for A. freiburgense and genotyped the intercrossed lines. This analysis identified a quantitative trait locus spanning several X chromosome genes linked to the non-Mendelian inheritance patterns observed in A. freiburgense. This finding provides valuable clues to the underlying factors involved in asymmetric organelle partitioning during male meiotic division and thus non-Mendelian transmission of the X chromosome and sex ratios. [ABSTRACT FROM AUTHOR]

Introduction: Testis differentiation is initiated by the SRY gene on the Y chromosome in mammalian species. However, the Amami spiny rat, Tokudaia osimensis, lacks both the Y chromosome and the Sry gene and acquired a unique Sox9 regulatory mechanism via a male-specific duplication upstream of Sox9, without Sry. In general mammalian species, the SRY protein binds to a testis-specific enhancer to promote SOX9 gene expression. Several enhancers located upstream of Sox9/SOX9 have been reported in mice and humans. In particular, the binding of SRY to the highly conserved enhancer Enh13 is thought to be a common mechanism underlying testis differentiation and sex determination in mammals. Methods: Sequences of T. osimensis homologues of three Sox9 enhancers that were previously reported in mice, Enh8, Enh14, and Enh13, were determined. We performed in vitro assays to confirm enhancer activity involved in Sox9 regulation in T. osimensis. Results:T. osimensis Enh13 showed enhancer activity when co-transfected with NR5A1 and SOX9. Mouse Enh13 was activated by NR5A1 and SRY; however, T. osimensis Enh13 did not respond to SRY, even though the binding sites of SRY and NR5A1 were conserved. To identify the key sequence that is present in mouse but absent from T. osimensis, we performed reporter gene assays using vectors in which partial sequences of T. osimensis Enh13 were replaced with mouse sequences. For T. osimensis Enh13 in which the second half (approximately 430 bp) was replaced with the corresponding mouse sequence, activity in response to NR5A1 and SRY was recovered. Further, reporter assays revealed that multiple regions in the second half of the mouse Enh13 sequence are required for the response to NR5A1 and SRY. The latter 49 bp was particularly important and contained four binding sites for three transcription factors, POU2F1, HOXA3, and GATA1. Conclusion: We showed that there are unknown sequences responsible for the interaction between NR5A1 and SRY and mEnh13 based on comparative analyses of Sry-dependent and Sry-independent species. Our comparative analyses revealed new molecular mechanisms underlying mammalian sex determination. [ABSTRACT FROM AUTHOR]

Objectives: Estimating the sex of cremated human remains is difficult. The petrous bone frequently survives the cremation due to its density. Wahl observed the lateral angle to be sexually dimorphic in the 1980s. Previous studies showed various cut‐off points to separate females from males, which are hardly replicable and difficult to apply. We want to test the Wahl method and compare it to a new landmark‐based version. Materials and Methods: In this study, we measured the lateral angle of 35 cremated petrous bones from late bronze age Austria using micro‐CT scans. Technical errors of measurement were calculated for two different methods to intersect the internal acoustic meatus virtually in the midline (manual or landmark‐based intersection). Furthermore, sex was estimated based on morphological features and metric measurements. This information was used in logistic regression modeling to define a cut‐off point in our sample. Results: The technical errors of measurement suggested that a landmark‐based method was more precise in comparison to a manual intersection which was much more intuitive. Inter‐ and intra‐observer errors were low which improved reliability. The logistic regression model produced good results in our sample (p = 0.02, R2 = 0.38, accuracy = 0.8). The mean lateral angle was similar to studies which focused on prehistoric cremated petrous bones. Discussion: The proposed landmark‐based method was precise, quick, and could be easily applied, even by unexperienced researchers. The size of the lateral angle seemed to be population‐specific but also dependent on the method applied. We recommend to use the proposed landmark‐based method which is more precise. [ABSTRACT FROM AUTHOR]

Examination of hair with its intact root is commonly used for DNA profiling of the donor. However, its use for gathering other types of information is less explored. Using attenuated total reflectance-Fourier transform infrared spectroscopy, the present study aims to explore other relevant aspects in a non-destructive manner for forensics. Determining the sex and blood group of human hair samples were the major goals of the study. Sex determination was accomplished by analyzing the differential vibrational intensities and stretching of various chemical groups associated with hair and its proteins. Statistical inference of spectral data was performed using chemometric algorithms such as PCA and PLS-DA. The PLS-DA model determined sex with 100% accuracy and blood grouping with an average accuracy of 95%. The present study is the first of its kind to determine sex and blood grouping from human scalp hair shafts, as far as the author knows. By acting as a preliminary screening test, this study could have significant implications for forensic analysis of crime scene samples. Human and synthetic hair were used in validation studies, resulting in 100% accuracy, specificity, and sensitivity, with 0% false positives and false negatives. The technique ATR FTIR spectroscopy could complement the currently used methods of hair analysis such as physical examination and mitochondrial or genomic DNA analysis. [ABSTRACT FROM AUTHOR]

The Pacific whiteleg shrimp Penaeus (Litopenaeus) vannamei is a highly relevant species for the world's aquaculture development, for which an incomplete genome is available in public databases. In this work, PacBio long-reads from 14 publicly available genomic libraries (131.2 Gb) were mined to improve the reference genome assembly. The libraries were assembled, polished using Illumina short-reads, and scaffolded with P. vannamei , Feneropenaeus chinensis , and Penaeus monodon genomes. The reference-guided assembly, organized into 44 pseudo-chromosomes and 15,682 scaffolds, showed an improvement from previous reference genomes with a genome size of 2.055 Gb, N50 of 40.14 Mb, L50 of 21, and the longest scaffold of 65.79 Mb. Most orthologous genes (92.6%) of the Arthropoda_odb10 database were detected as "complete," and BRAKER predicted 21,816 gene models; from these, we detected 1,814 single-copy orthologues conserved across the genomic references fo r Marsupenaeus japonicus , F. chinensis, and P. monodon. Transcriptomic-assembly data aligned in more than 99% to the new reference-guided assembly. The collinearity analysis of the assembled pseudo-chromosomes against the P. vannamei and P. monodon reference genomes showed high conservation in different sets of pseudo-chromosomes. In addition, more than 21,000 publicly available genetic marker sequences were mapped to single-site positions. This new assembly represents a step forward to previously reported P. vannamei assemblies. It will be helpful as a reference genome for future studies on the evolutionary history of the species, the genetic architecture of physiological and sex-determination traits, and the analysis of the changes in genetic diversity and composition of cultivated stocks. [ABSTRACT FROM AUTHOR]

Geckos exhibit derived karyotypes without a clear distinction between macrochromosomes and microchromosomes and intriguing diversity in sex determination mechanisms. We conducted cytogenetic analyses in six species from the genera Nephrurus , Phyllurus , and Saltuarius of the gecko family Carphodactylidae. We confirmed the presence of a female heterogametic system with markedly differentiated and heteromorphic sex chromosomes in all examined species, typically with the W chromosome notably larger than the Z chromosome. One species, Nephrurus cinctus , possesses unusual multiple Z1Z1Z2Z2/Z1Z2W sex chromosomes. The morphology of the sex chromosomes, along with repetitive DNA content, suggests that the differentiation or emergence of sex chromosomes occurred independently in the genus Phyllurus. Furthermore, our study unveils a case of spontaneous triploidy in a fully grown individual of Saltuarius cornutus (3n = 57) and explores its implications for reproduction in carphodactylid geckos. We revealed that most carphodactylids retain the putative ancestral gekkotan karyotype of 2n = 38, characterized by predominantly acrocentric chromosomes that gradually decrease in size. If present, biarmed chromosomes emerge through pericentric inversions, maintaining the chromosome (and centromere) numbers. However, Phyllurus platurus is a notable exception, with a karyotype of 2n = 22 chromosomes. Its eight pairs of biarmed chromosomes were probably formed by Robertsonian fusions of acrocentric chromosomes. The family underscores a remarkable instance of evolutionary stability in chromosome numbers, followed by a profound transformation through parallel interchromosomal rearrangements. Our study highlights the need to continue generating cytogenetic data in order to test long-standing ideas about reproductive biology and the evolution of genome and sex determination. [ABSTRACT FROM AUTHOR]

The genetic architecture of mating-type loci in lichen-forming fungi has been characterized in very few taxa. Despite the limited data, and in contrast to all other major fungal lineages, arrangements that have both mating-type alleles in a single haploid genome have been hypothesized to be absent from the largest lineage of lichen-forming fungi, the Lecanoromycetes. We report the discovery of both mating-type alleles from the haploid genomes of three species within this group. Our results demonstrate that Lecanoromycetes are not an outlier among Ascomycetes. [ABSTRACT FROM AUTHOR]

BACKGROUND: The accurate identification of unknown human remains plays a critical role in natural disaster scenarios and medico-legal cases in forensic anthropology and forensic medicine. This study aimed to determine normal reference values for the breadth of the talus bone using ankle radiographs from a Teaching Hospital in Delta State, Nigeria. MATERIAL AND METHODS: This cross-sectional study retrospectively reviewed 107 digital ankle radiographs from patients aged 20 to 60 years (60 males and 47 females). Ethical clearance was obtained before accessing the digital images archived in a radiological unit of a Hospital in Delta State, Nigeria. The talus breadth was measured using digital calipers and the Statistical Package for Social Sciences (SPSS) was used to compare the means based on gender and age. The association of variables was done using the Pearson's correlation test. Statistical significance was considered at P < 5%. RESULTS: The mean talus breadth was significantly larger in males (41.76 mm) than in females (38.59 mm). However, the means had no significant association with age. The right talus breadth had a strong positive correlation with the left talus breadth. CONCLUSION: The findings are useful to orthopedic surgeons managing ankle pathologies. In addition, the study reveals the potential use of the talar breadth in sex determination when other methods are inconclusive. [ABSTRACT FROM AUTHOR]

Wild zebrafish (Danio rerio) have a ZZ/ZW chromosomal sex-determination system with the major sex locus on the right arm of chromosome-4 (Chr4R) near the largest heterochromatic block in the genome, suggesting that Chr4R transcriptomics might differ from the rest of the genome. To test this hypothesis, we conducted an RNA-seq analysis of adult ZW ovaries and ZZ testes in the Nadia strain and identified 4 regions of Chr4 with different gene expression profiles. Unique in the genome, protein-coding genes in a 41.7 Mb section (Region-2) were expressed in testis but silent in ovary. The AB lab strain, which lacks sex chromosomes, verified this result, showing that testis-biased gene expression in Region-2 depends on gonad biology, not on sex-determining mechanism. RNA-seq analyses in female and male brains and livers validated reduced transcripts from Region-2 in somatic cells, but without sex specificity. Region-2 corresponds to the heterochromatic portion of Chr4R and its content of genes and repetitive elements distinguishes it from the rest of the genome. Region-2 lacks protein-coding genes with human orthologs; has zinc finger genes expressed early in zygotic genome activation; has maternal 5S rRNA genes, maternal spliceosome genes, a concentration of tRNA genes, and a distinct set of repetitive elements. The colocalization of (1) genes silenced in ovaries but not in testes that are (2) expressed in embryos briefly at the onset of zygotic genome activation; (3) maternal-specific genes for translation machinery; (4) maternal-specific spliceosome components; and (5) adjacent genes encoding miR-430, which mediates maternal transcript degradation, suggest that this is a maternal-to-zygotic-transition gene regulatory block. [ABSTRACT FROM AUTHOR]

Primordial germ cells (PGCs) are the precursors of functional gametes and the only cell type capable of transmitting genetic and epigenetic information from generation to generation. These cells offer valuable starting material for cell-based genetic engineering and genetic preservation, as well as epigenetic studies. While chicken PGCs have demonstrated resilience in maintaining their germness characteristics during both culturing and cryopreservation, their handling remains a complex challenge requiring further refinement. Herein, the study aimed to compare the effects of different conditions (freezing-thawing and in vitro cultivation) on the expression of PGC-specific marker genes. Embryonic blood containing circulating PGCs was isolated from purebred Green-legged Partridgelike chicken embryos at 14–16 Hamburger–Hamilton (HH) embryonic development stage. The blood was pooled separately for males and females following sex determination. The conditions applied to the blood containing PGCs were as follows: (1) fresh isolation; (2) cryopreservation for a short term (2 days); and (3) in vitro culture (3 months) with long-term cryopreservation of purified PGCs (~2 years). To characterize PGCs, RNA isolation was carried out, followed by quantitative reverse transcription polymerase chain reaction (RT-qPCR) to assess the expression levels of specific germ cell markers (SSEA1, CVH, and DAZL), as well as pluripotency markers (OCT4 and NANOG). The investigated genes exhibited consistent expression among PGCs maintained under diverse conditions, with no discernible differences observed between males and females. Notably, the analyzed markers demonstrated higher expression levels in PGCs when subjected to freezing than in their freshly isolated counterparts. [ABSTRACT FROM AUTHOR]

In mammals, gonadal somatic cell lineage differentiation determines the development of the bipotential gonad into either the ovary or testis. Sertoli cells, the only somatic cells in the spermatogenic tubules, support spermatogenesis during gonadal development. During embryonic Sertoli cell lineage differentiation, relevant genes, including WT1, GATA4, SRY, SOX9, AMH, PTGDS, SF1, and DMRT1, are expressed at specific times and in specific locations to ensure the correct differentiation of the embryo toward the male phenotype. The dysregulated development of Sertoli cells leads to gonadal malformations and male fertility disorders. Nevertheless, the molecular pathways underlying the embryonic origin of Sertoli cells remain elusive. By reviewing recent advances in research on embryonic Sertoli cell genesis and its key regulators, this review provides novel insights into sex determination in male mammals as well as the molecular mechanisms underlying the genealogical differentiation of Sertoli cells in the male reproductive ridge. [ABSTRACT FROM AUTHOR]

Aim: The calcaneus has a significant role in the foot due to its location. It is used together with the pelvis and skull bones in gender determination. In this study, it was aimed to determine the morphometric characteristics of the calcaneus and determine the suitability of these measurement locations for gender estimation. Material and Method: In the study, seven measurements were taken bilaterally from 1,080 lateral foot radiographs of 540 individuals aged 20-65 years. For foot bone height (FBL), the distance between the anterior end of the distal phalanx of the most distal toe and the most posterior end of the foot was taken, while for maximum calcaneal length (maxCaL), the distance between the anterior end of the calcaneus and the posterior end of the calcaneus was taken. SPSS 21 program was used for statistical analyses and the ratio of gender prediction performances was examined by Receiver operating characteristic (ROC) analysis. Results: All length measurements were higher in males than females (p<0.05), and foot bone height (FBL) (p=0.035) and maximum calcaneus height (maxCaH) (p=0.007) were higher on the right side than on the left side. The study also found a weak negative correlation between age and the right-sided medial calcaneus length parameter (rmedCaL) and strong correlations between certain measurements. Foot bone length (FBL) was found to have the highest accuracy in predicting gender (AUC=0.913). Conclusion: The findings provide useful information for forensic cases, provide reference data for diagnosis and treatment processes in the clinic, and provide data for the development of machine learning software that can be used in medical and forensic cases. [ABSTRACT FROM AUTHOR]

Artificial breeding was induced in the pufferfish Arothron manilensis following ultrasonographic sex determination. Hormonal treatment of mature male and female specimens followed the collection (and measurement) of fully developed eggs by cannulation. Fertilized eggs (0.85 ± 0.02 mm diameter) were spherical, demersal and individually adhesive. Hatching occurred 5 days after fertilization, larvae being 2.23 ± 0.15 mm in total length and 2.08 ± 0.14 mm in notochord length. The larvae had all died within 14 days of hatching. To improve artificial breeding techniques for A. manilensis, it is necessary to determine more appropriate timing for hormone injection, as well as feeding nutrient‐enhanced SS type Brachionus sp. to newly hatched larvae. Research Highlights: Artificial breeding was induced in the pufferfish Arothron manilensis following ultrasonographic sex determination. Hormonal treatment of mature male and female specimens followed the collection of fully developed eggs by cannulation. [ABSTRACT FROM AUTHOR]

The present study tested the combination of mandibular and dental dimensions for sex determination using machine learning. Lateral cephalograms and dental casts were used to obtain mandibular and mesio-distal permanent teeth dimensions, respectively. Univariate statistics was used for variables selection for the supervised machine learning model (alpha = 0.05). The following algorithms were trained: logistic regression, gradient boosting classifier, k-nearest neighbors, support vector machine, multilayer perceptron classifier, decision tree, and random forest classifier. A threefold cross-validation approach was adopted to validate each model. The areas under the curve (AUC) were computed, and ROC curves were constructed. Three mandibular-related measurements and eight dental size-related dimensions were used to train the machine learning models using data from 108 individuals. The mandibular ramus height and the lower first molar mesio-distal size exhibited the greatest predictive capability in most of the evaluated models. The accuracy of the models varied from 0.64 to 0.74 in the cross-validation stage, and from 0.58 to 0.79 when testing the data. The logistic regression model exhibited the highest performance (AUC = 0.84). Despite the limitations of this study, the results seem to show that the integration of mandibular and dental dimensions for sex prediction would be a promising approach, emphasizing the potential of machine learning techniques as valuable tools for this purpose. [ABSTRACT FROM AUTHOR]

Synodontis catfishes in Lake Tanganyika have undergone a modest radiation, with differences among species in reproductive strategies, including one species that has evolved to be an obligate brood parasite. Here, we provide insights into the reproductive traits and histology of male and female reproductive organs of five Lake Tanganyika Synodontis species (S. irsacae, S. melanostictus, S. multipunctatus, S. petricola and S. polli). We describe the structures employed in oogenesis, spermiogenesis and spermiation. We show that the shape and size of the urogenital papilla is a valuable trait for sex determination in all species except S. polli, where the imprecision reached > 20 %. From a histological perspective, the inter-specific structural differences associated with the type of reproductive strategy were not found in the ovaries. However, testicular histology indicated variations in spermiation structures among species, namely in S. multipunctatus and S. irsacae. The differences identified may be related to variation in reproductive strategies among species. In particular, weaker eosinophily of testicular secretions was found in S. multipunctatus than in other species, suggesting the possibility of a different composition. Experimental manipulation of environmental and hormonal stimuli represents a promising direction for further research into the structural and functional diversity of male gonads in Synodontis species from Lake Tanganyika. [ABSTRACT FROM AUTHOR]

Asia arowana (Scleropages formosus) is anornamental fishwith high economic value, while its sex determination mechanism is still poorly understood. By far, no morphological evidence or molecular marker has been developed for effective distinguishment of genders, which poses a critical challenge to our captive breeding efforts. In this study, we sequenced gonadal transcriptomes of adult Asian arowanas and revealed differential expression profiling of sex-related genes. Based on the comparative transcriptomics analysis of testes (n = 3) and ovaries (n = 3), we identified a total of 8,872 differentially expressed genes (DEGs) and 18,490 differentially expressed transposable elements (TEs) between male and female individuals. Interestingly, the expression of TEs usually has been more significantly testis-biased than related coding genes. As expected, several genes related to females (such as foxl2 and cyp19a1a) are significantly transcribed in the ovary, and some genes related to male gonad development (such as dmrt1, gsdf and amh) are highly expressed in the testis. This sexual dimorphism is valuable for ascertaining the differential expression patterns of sex-related genes and enriching the genetic resources of this economically important species. These valuable genetic materials thereby provide instructive references for gender identification and one-to-one breeding practices so as to expand fish numbers for a rapid elevation of economic value. [ABSTRACT FROM AUTHOR]

Background: The Asian yellow pond turtle (Mauremys mutica) is an important commercial freshwater aquaculture species in China. This species is a highly sexually dimorphic species, with males growing at a faster rate than females and exhibits temperature-dependent sex determination (TSD), in which the incubation temperature during embryonic development determines the sexual fate. However, the mechanisms of the sex determination or sex differentiation in the Asian yellow pond turtle are remain a mystery. Results: Temperature-specific gonadal transcriptomics of the Asian yellow pond turtle were performed during the thermosensitive period (stage 15) using RNA-seq technology to identify candidate genes that initiate gonadal differentiation. We uncovered candidates that were the first to respond to temperature. These candidates were sexually dimorphic in expression, reflecting differences in gonadal (Cirbp, Runx1) and germline differentiation (Vasa, Nanos1, Piwil2), gametogenesis (Hmgb3, Zar1, Ovoinhibitor-like, Kif4), steroid hormone biosynthesis (Hsd17b5, Hsd17b6), heat shock (Dnajb6, Hsp90b1, Hsp90aa1) and transient receptor potential channel genes (Trpm1, Trpm4, Trpm6, Trpv1). Conclusions: Our work will provide important genetic information to elucidate the mechanisms of sex control in the Asian yellow pond turtles, and will contribute important genetic resources for further studies of temperature-dependent sex determination in turtles. [ABSTRACT FROM AUTHOR]

Simple Summary: The mechanism of sex determination and differentiation in animals has remained a central focus of reproductive and developmental biology research. Among these, the study of sex differentiation mechanisms in amphioxus, an ancient and unique organism, holds significant value for understanding the evolution and origin of sex determination mechanisms in vertebrates. However, the current understanding of the sex differentiation regulatory mechanisms in amphioxus remains limited. This study aims to enrich and deepen our comprehension of the sex differentiation mechanisms in amphioxus through the identification of two cyp19 homologous genes and the analysis of their expression level in male and female gonads. Additionally, this research provides valuable insights into the formation and evolutionary pathways of sex determination mechanisms in vertebrates. The mechanism of sex determination and differentiation in animals remains a central focus of reproductive and developmental biology research, and the regulation of sex differentiation in amphioxus remains poorly understood. Cytochrome P450 Family 19 Subfamily A member 1 (CYP19A1) is a crucial sex differentiation gene that catalyzes the conversion of androgens into estrogens. In this study, we identified two aromatase-like genes in amphioxus: cyp19-like1 and cyp19-like2. The cyp19-like1 is more primitive and may represent the ancestral form of cyp19 in zebrafish and other vertebrates, while the cyp19-like2 is likely the result of gene duplication within amphioxus. To gain further insights into the expression level of these two aromatase-like, we examined their expression in different tissues and during different stages of gonad development. While the expression level of the two genes differs in tissues, both are highly expressed in the gonad primordium and are primarily localized to microsomal membrane systems. However, as development proceeds, their expression level decreases significantly. This study enhances our understanding of sex differentiation mechanisms in amphioxus and provides valuable insights into the formation and evolution of sex determination mechanisms in vertebrates. [ABSTRACT FROM AUTHOR]

Background: For over a century, anthropometric techniques, widely used by anthropologists and adopted by medical scientists, have been utilized for predicting stature and sex. This study, conducted on a Eastern Turkish sample, aims to predict sex and stature using foot measurements through linear methods and Artificial Neural Networks. Our research was conducted on 134 medical students, comprising 69 males and 65 females. Stature and weight were measured in a standard anatomical position in the Frankfurt Horizontal Plane with a stadiometer of 0.1 cm precision. Measurements of both feet's height, length, and breadth were taken using a Vernier caliper, osteometric board, and height scale. The data were analyzed using SPSS 26.00. Results: It was observed that all foot dimensions in males were significantly larger than in females. Sex prediction using linear methods yielded an accuracy of 94.8%, with a stature estimation error of 4.15 cm. When employing Artificial Neural Networks, sex prediction accuracy increased to 97.8%, and the error in stature estimation was reduced to 4.07 cm. Conclusions: Our findings indicate that Artificial Neural Networks can work more effectively with such data. Using Artificial Neural Networks, the accuracy of sex prediction for both feet exceeded 95%. Additionally, the error in stature estimation was reduced compared to the formulas obtained through linear methods. [ABSTRACT FROM AUTHOR]

Sex identification is a common objective in molecular ecology. While many vertebrates display sexual dimorphism, determining the sex can be challenging in certain situations, such as species lacking clear sex-related phenotypic characteristics or in studies using non-invasive methods. In these cases, DNA analyses serve as valuable tools not only for sex determination but also for validating sex assignment based on phenotypic traits. In this study, we developed a bioinformatic framework for sex assignment using genomic data obtained through GBS, and having an available closely related genome assembled at the chromosome level. Our method consists of two ad hoc indexes that rely on the different properties of the mammalian heteromorphic sex chromosomes. For this purpose, we mapped RAD-seq loci to a reference genome and then obtained missingness and coverage depth values for the autosomes and X and Y chromosomes of each individual. Our methodology successfully determined the sex of 165 fur seals that had been phenotypically sexed in a previous study and 40 sea lions sampled in a non-invasive way. Additionally, we evaluated the accuracy of each index in sequences with varying average coverage depths, with Index Y proving greater reliability and robustness in assigning sex to individuals with low-depth coverage. We believe that the approach presented here can be extended to any animal taxa with known heteromorphic XY/ZW sex chromosome systems and that it can tolerate various qualities of GBS sequencing data. [ABSTRACT FROM AUTHOR]

Non-invasive prenatal testing (NIPT), since its introduction in 2011, has revolutionized prenatal screening, becoming widely used globally and replacing traditional screening methods in developed countries. The accuracy of NIPT in detecting aneuploidies is extremely high and there has been a recent trend towards improving NIPT for detecting microdeletion and microduplication syndromes, monogenic diseases, fetal sex determination, and RH genotyping. Significant progress has been made in molecular analysis techniques of fetal DNA, including methods such as massively parallel sequencing, RNA-based testing, digital PCR, and single nucleotide polymorphism analysis. We present the case of a 32-year-old patient who, at 12 weeks of gestation, had a non-invasive prenatal test result showing a maternal 22q11.2 deletion. Following genetic consultation, further investigations were conducted to stratify the fetal risk of inheriting the microdeletion syndrome. As a result, microarray CGH cytoarray from amniotic fluid was performed, and no 22q11.2 deletion was detected. In this case, complete elucidation of the origin of the deletion found in NIPT could not be achieved, as it would require arrayCGH testing for the mother, a test that was not performed due to financial reasons. Given the high rate of genetic syndromes with potential impact on fetal development and familial psychological impact, we wish to emphasize the necessity of financial support from the state to introduce non-invasive prenatal testing into the list of reimbursed analyses covered by health insurance. This would enable superior testing and, implicitly, genetic prevention of all pregnancies, facilitating appropriate risk stratification of pregnancies in our country. [ABSTRACT FROM AUTHOR]

Sex development is a multi-step process involving determination, differentiation, and maintenance of the gonads, which culminates in producing fertile sperm and eggs. In teleosts, candidate genes mastering this process can be thermosensitive before or just at the beginning of differentiation, the sensitive period in fish. The knowledge of these mechanisms may be useful for the production of monosex populations in aquaculture. Here we investigated the influence of temperature on survival, growth, expression profiles of genes involved in early sexual development, and sex ratio. 5-day-old (undifferentiated) larvae were reared at 26, 28 and 31 °C for 90 days, and expression of genes involved in testis- (wt1b and ar) and ovary-determining (amh and foxl2) pathways, and vasa, were analysed four times from 20 to 90 days post-hatching, and the resulting sex ratios were estimated. Only foxl2 showed a thermosensitive transcription at 20 dph, decreasing at the highest temperature. None of the male-bias genes were regulated by temperature. Still, both wt1b and ar were upregulated in some individuals long after sex differentiation, suggesting the importance of testis-skewed genes not only at testis establishment but also at later stages. The sex ratio was not affected by temperature. Our study also revealed an unusual vasa expression profile before and after gonadal differentiation; in some fish increasing expression values were recorded while others presented low vasa expression even after differentiation. Our results support a strict genetic control in the sex determination of tambaqui, despite thermosensitivity of some genes involved in its sexual development. [ABSTRACT FROM AUTHOR]

Introduction: Forensic experts play a crucial role in personal identification in mass disasters such as airline crashes, tsunamis, and earthquakes. In forensic practice, sex determination plays a significant role in establishing identity. Various anthropometric procedures are employed by forensic anthropometrists to ascertain the gender from dismembered corpse pieces. These anthropometric methods seek to determine the measurement threshold for certain body parts or bones that distinguish between male and female. The objectives of the study were to determine cutoff points for hand dimensions and to correlate hand dimensions in both sexes. Materials and Methods: The study was conducted at the Department of Forensic Medicine & Toxicology, at Indira Gandhi Institute of Medical Sciences in Patna, Bihar. This included 100 healthy MBBS students (50 males and 50 females) aged between 20-30 years, from the first year to the final year, who gave their informed consent to participate in the study. In this study, we recorded three morphometric parameters for each hand in cm, using vernier calipers i.e. length of the hand, breadth of the hand and hand index. The obtained data was analyzed using Statistical Package for Social Sciences (SPSS, version 24.0) software. Results: We observed that the mean values of hand dimensions and hand index were more in males than in females. There was a slight bilateral difference in the length and breadth of the hands in the male and female subjects. The anticipated cut-off marks for hand length are 18.31 cm, hand breadth is 7.79 cm, and hand index is 42.58 cm. Hand breadth, followed by hand length and hand index, were more accurate in identifying the sex. Conclusion: Hand dimensions and indices show sexual dimorphism. It was observed that there were minor variations in both sides of the same sex. Cut-off points were determined regardless of the side. A measurement above the cut-off point indicates male sex, while a measurement below the cut-off point indicates female sex. These cut-off points are specific to a particular population and their accuracy has also been calculated. The results of this study may be helpful in identifying the gender of a severed hand during a medicolegal examination. Even in cases where a portion of the hand is retrieved and brought in for analysis, the study has consequences for medicine and law. [ABSTRACT FROM AUTHOR]

The Masculinizer gene, Masc, encodes a lepidopteran‐specific novel CCCH‐type zinc finger protein, which controls sex determination and dosage compensation in Bombyx mori. Considering the potential application of it in pest control, it is necessary to investigate the function of Masc gene in Hyphantria cunea, a globally invasive forest pest. In the present study, we identified and functionally characterized the Masc gene, HcMasc, in H. cunea. Sequence analysis revealed that HcMASC contained the conserved CCCH‐type zinc finger domain, nuclear localization signal, and male determining domain, in which the last was confirmed to be required for its masculinization in BmN cell line. However, expression data showed that unlike male‐biased expression in B. mori, HcMasc gene expresses in main all developmental stages or tissues in both sexes. Clustered regularly interspaced palindromic repeats (CRISPR) / CRISPR‐associated protein 9‐based disruption of the common exons 1 and 3 of the HcMasc gene resulted in imbalanced sex ratio and abnormal external genitalia of both sexes. Our results suggest that the HcMasc gene is required for both male and female sexual differentiation and dosage compensation in H. cunea and provide a foundation for developing better strategies to control this pest. [ABSTRACT FROM AUTHOR]

Purpose: The hypothesis was fetal sex determination by ultrasound at 11–14 weeks' gestation has sufficient accuracy to be clinically relevant. Methods: Fetal sex assessment by transabdominal ultrasound was performed in 567 fetuses at 11–14 weeks' gestation (CRL: 45–84 mm). A mid-sagittal view of the genital region was obtained. The angle of the genital tubercle to a horizontal line through the lumbosacral skin surface was measured. The fetus was assigned male sex if the angle was > 30°, and female sex if the genital tubercle was parallel or convergent (< 10°). At an intermediate angle of 10–30°, the sex was not assigned. The results were divided into three categories based on gestational age: 11 + 2 to 12 + 1, 12 + 2 to 13 + 1, and 13 + 2 to 14 + 1 weeks' gestation. To establish its accuracy, the first trimester fetal sex determination was compared to fetal sex determined on a mid-second trimester ultrasound. Results: Sex assignment was successful in 534/683 (78%) of the cases. The overall accuracy of fetal sex assignment across all gestational ages studied was 94.4%. It was 88.3%, 94.7%, and 98.6% at 11 + 2 to 12 + 1, 12 + 2 to 13 + 1, and 13 + 2 to 14 + 1 weeks' gestation, respectively. Conclusion: Prenatal sex assignment at the time of first trimester ultrasound screening has a high accuracy rate. The accuracy improved with increasing gestational age, which suggests that if clinically important decisions, such as chorionic villus sampling, are to be made based on fetal sex, they should be delayed until the latter part of the first trimester. [ABSTRACT FROM AUTHOR]

Sex in some organisms shows a continuous spectrum. Sometimes sexual differences in an individual's organs are contradictory and determined by physiological, pathological and environmental factors, leading to debate over the definitions of sex in individuals. This study indicates that the essence of sex during reproduction distinguishes between reproductive subjects and that the unit of reproduction is not the individual but the reproductive cell. To properly supplement the existing definitions of sex, a definition of sex in reproduction in which only reproductive cells have sexes was herein addressed, focusing on material contributions to reproduction and the formation of zygotes by reproductive cells. Equations to describe sexes are proposed, as well as equations to make this only reproductive-cell sex definition compatible with the individual sex definition based on the quantitative proportions of different reproductive cells. The explanation of sex determination, sex differences and sex competition based on the definition of only reproductive-cell sex in reproduction is discussed. [ABSTRACT FROM AUTHOR]

Objectives: This paper starts from the unusual observation of the overrepresentation of females among adults in the cemetery of Bronze Age Shahr‐i Sokhta (Seistan, Iran) and explores the post marital residence pattern. By integrating taphonomical (skeletal preservation), anthropological (sex ratio [SR], sexual dimorphism, stress indicators, age at death), archeological (long distance trade indicators, habitation floor area, social role of women), and ancient DNA (heterozygosity levels in X chromosomes) data we test the hypothesis of post marital matrilocality in the site. Methods: We computed the SR (pelvis‐based sex determination) in a random unpublished adult sample from the cemetery of Shahr‐i Sokhta and in two samples previously published by other authors. We used comparative data on SR from: a large Supra Regional multi‐chronological sample of sites, n = 47, with 8808 adult sexed individuals, from Southern Europe, Egypt, Middle East, Southern Russia; a Regional Bronze Age sample of sites (n = 10) from Bactria Margiana and Indus Valley with 1324 adult sexed individuals. We estimated the heterozygosity levels in X chromosomes compared with the rest of the autosomes on the assumption that in a matrilocal society females should show lower variability than men. Results: Adult SR in a sample (n = 549) from Shahr‐i Sokhta is 70.5, the overrepresentation of females is shared with Regional Bronze Age sites from Bactria Margiana (SR = 72.09) and Indus Valley (SR = 67.54). On the contrary, in a larger Supra Regional multi‐chronological sample of sites, mean SR ranges between 112.7 (Bronze Age) and 163.1 (Middle Ages). Taphonomical and anthropological indicators do not explain the overrepresentation of female skeletons. Archeological indicators suggest a high social status of women and that the society was devoted to long range trade activities. heterozygosity levels in X chromosomes are in agreement with a matrilocal society. Conclusions: Indicators suggest that Bronze Age Shahr‐ì Sokhta was a matrilocal society and that long distance trade was an important economic factor producing an overrepresentation of adult female skeletons in the cemetery. [ABSTRACT FROM AUTHOR]

Morphological analysis of the frontal sinuses (FS) is one of the methods used to assess the sex of human remains. Depending on the methods, the results indicate the effectiveness of using the FS in the assessment of sex at the level of 60-85.9%. Our goal was to determine whether the morphological and morphometric methods of sex assessment based on the FS can be used for examining historical populations in anthropological studies. We assessed FS both morphologically and morphometrically on a sample of 76 dry skulls (41 females and 35 males) from 17th-18th century form Poland to evaluate the potential of applying this method for sex estimation in human remains. A total of 76 X-rays were taken in both frontal and lateral views. The morphology and morphometry of the FS were assessed with ImageJ software. There were no significant differences between the sexes in assessing the outline of the upper border of the FS, as well as the number of partial septa. There was a statistically significant difference between the sexes in the width of the right FS, the height of the right and left FS, and the right and left area of the FS. The lateral view indicated a statistically significant difference between the sexes regarding the depth and area of the FS. The accuracy rate in classifying males and females using FS morphometry ranged from 59.09% to 69.57%. The FS in the lateral view (69.57%) and the height of the left FS in the frontal view (68.18%) are the most appropriate regressors for sex determination. Statistically significant differences in some FS measurements between the sexes do not appear to be a sufficient indicator of sex. Morphological and morphometrical characteristics of the FS should not be used as a guideline for sex assessment in the historical Polish population. [ABSTRACT FROM AUTHOR]

To understand the biology of a species, it is often crucial to be able to differentiate males and females. However, many species lack easily identifiable sexually dimorphic traits. In those that possess sex chromosomes, molecular sexing offers a good alternative, and molecular sexing assays can be developed through the comparison of male and female genomic sequences. However, in many nonmodel species, sex chromosomes are poorly differentiated, and identifying sex-linked sequences and developing sexing assays can be challenging. In this study, we highlight a simple transcriptome-based procedure for the detection of sex-linked markers suitable for the development of sexing assays that circumvents limitations of more commonly used approaches. We apply it to the spotted snow skink Carinascincus ocellatus , a viviparous lizard with homomorphic XY chromosomes that has environmentally induced sex reversal. With transcriptomes from three males and three females alone, we identify thousands of putative Y-linked sequences. We confirm linkage through alignment of assembled transcripts to a distantly related lizard genome and readily design multiple single locus polymerase chain reaction primers to sex C. ocellatus and related species. Our approach also facilitates valuable comparisons of sex determining systems on a broad taxonomic scale. [ABSTRACT FROM AUTHOR]

Bacteria in the genus Wolbachia have evolved numerous strategies to manipulate arthropod sex, including the conversion of would-be male offspring to asexually reproducing females. This so-called "parthenogenesis induction" phenotype can be found in a number of Wolbachia strains that infect arthropods with haplodiploid sex determination systems, including parasitoid wasps. Despite the discovery of microbe-mediated parthenogenesis more than 30 yr ago, the underlying genetic mechanisms have remained elusive. We used a suite of genomic, computational, and molecular tools to identify and characterize two proteins that are uniquely found in parthenogenesis-inducing Wolbachia and have strong signatures of host-associated bacterial effector proteins. These putative parthenogenesis-inducing proteins have structural homology to eukaryotic protein domains including nucleoporins, the key insect sex determining factor Transformer, and a eukaryotic-like serine–threonine kinase with leucine-rich repeats. Furthermore, these proteins significantly impact eukaryotic cell biology in the model Saccharomyces cerevisiae. We suggest that these proteins are parthenogenesis-inducing factors and our results indicate that this would be made possible by a novel mechanism of bacterial-host interaction. [ABSTRACT FROM AUTHOR]

BACKGROUND: Per- and polyfluoroalkyl substances (PFAS) are widely detected in pregnant women and associated with adverse outcomes related to impaired placental function. Human chorionic gonadotropin (hCG) is a dimeric glycoprotein hormone that can indicate placental toxicity. OBJECTIVES: Our aim was to quantify the association of serum PFAS with placental hCG, measured as an intact molecule (hCG), as free alpha- (hCGα) and beta-subunits (hCGβ), and as a hyperglycosylated form (h-hCG), and evaluate effect measure modification by social determinants and by fetal sex. METHODS: Data were collected from 326 pregnant women enrolled from 2015 to 2019 in the UPSIDE study in Rochester, New York. hCG forms were normalized for gestational age at the time of blood draw in the first trimester [multiple of the median (MoM)]. Seven PFAS were measured in second-trimester maternal serum. Multivariate imputation by chained equations and inverse probability weighting were used to evaluate robustness of linear associations. PFAS mixture effects were estimated by Bayesian kernel machine regression. RESULTS: Perfluorohexane sulfonic acid (PFHxS) [hCGβ: 0.29 log MoM units per log PFHxS; 95% confidence interval (CI): 0.08, 0.51] and perfluorodecanoic acid (PFDA) (hCG: -0.09; 95% CI: -0.16, -0.02) were associated with hCG in the single chemical and mixture analyses. The PFAS mixture was negatively associated with hCGα and positively with hCGβ. Subgroup analyses revealed that PFAS associations with hCG differed by maternal race/ethnicity and education. Perfluoropentanoic acid (PFPeA) was associated with hCGβ only in Black participants (-0.23; 95% CI: -0.37, -0.09) and in participants with high school education or less (-0.14; 95% CI: -0.26, -0.02); conversely, perfluorononanoic acid (PFNA) was negatively associated with hCGα only in White participants (-0.15; 95% CI: -0.27, -0.03) and with hCGβ only in participants with a college education or greater (-0.19; 95% CI: -0.36, -0.01). These findings were robust to testing for selection bias, confounding bias, and left truncation bias where PFAS detection frequency was <100%. Two associations were negative in male (and null in female) pregnancies: Perfluoroundecanoic acid (PFUnDA) with hCGα, and PFNA with h-hCG. CONCLUSIONS: Evidence was strongest for the association between PFHxS and PFDA with hCG in all participants and for PFPeA and PFNA within subgroups defined by social determinants and fetal sex. PFAS mixture associations with hCGα and hCGβ differed, suggesting subunit-specific types of toxicity and/or regulation. Future studies will evaluate the biological, clinical and public health significance of these findings. [ABSTRACT FROM AUTHOR]

Abstract—The study of molecular and genetic mechanisms of sex determination in the poplar is of interest not only in the fundamental science, but also in the applied research. In landscaping of large settlements, it is advisable to use male individuals of the Populus genus due to their hypoallergenicity and increased resistance to environmental pollution, stress conditions, and pathogens. However, sex determination in poplars is complicated by the complex genetic structure of the sex-determining region of the genome (SDR). In this review, the emergence, evolution, structure, and function of the SDR in the genus Populus are discussed. Current insights into the structure and function of the key regulator of sex selection in poplars, orthologue of the ARR16/ARR17 gene and the possible roles of other genes that are differentially expressed between male and female plants, including microRNAs, in this process are discussed in detail. The great diversity of species and the high complexity of SDR organization justify the need for further study of the molecular mechanisms of sex determination in poplars. [ABSTRACT FROM AUTHOR]

Individuals with 46,XX/XY chimerism can display a wide range of characteristics, varying from hermaphroditism to complete male or female, and can display sex chromosome chimerism in multiple tissues, including the gonads. The gonadal tissues of females contain both granulosa and germ cells. However, the specific sex chromosome composition of the granulosa and germ cells in 46,XX/XY chimeric female is currently unknown. Here, we reported a 30-year-old woman with secondary infertility who displayed a 46,XX/46,XY chimerism in the peripheral blood. FISH testing revealed varying degrees of XX/XY chimerism in multiple tissues of the female patient. Subsequently, the patient underwent preimplantation genetic testing (PGT) treatment, and 26 oocytes were retrieved. From the twenty-four biopsied mature oocytes, a total of 23 first polar bodies (PBs) and 10 second PBs were obtained. These PBs and two immature metaphase I (MI) oocytes only displayed X chromosome signals with no presence of the Y, suggesting that all oocytes in this chimeric female were of XX germ cell origin. On the other hand, granulosa cells obtained from individual follicles exhibited varied proportions of XX/XY cell types, and six follicles possessed 100% XX or XY granulosa cells. A total of 24 oocytes were successfully fertilized, and 12 developed into blastocysts, where 5 being XY and 5 were XX. Two blastocysts were transferred with one originating from an oocyte aspirated from a follicle containing 100% XY granulosa cells. This resulted in a twin pregnancy. Subsequent prenatal diagnosis confirmed normal male and female karyotypes. Ultimately, healthy boy–girl twins were delivered at full term. In summary, this 46,XX/XY chimerism with XX germ cells presented complete female, suggesting that germ cells may exert a significant influence on the sexual determination of an individual, which provide valuable insights into the intricate processes associated with sexual development and reproduction. [ABSTRACT FROM AUTHOR]

Reliable sex identification in Varanus salvator traditionally relied on invasive methods like genetic analysis or dissection, as less invasive techniques such as hemipenes inversion are unreliable. Given the ecological importance of this species and skewed sex ratios in disturbed habitats, a dataset that allows ecologists or zoologists to study the sex determination of the lizard is crucial. We present a new dataset containing morphometric measurements of V. salvator individuals from the skin trade, with sex confirmed by dissection post- measurement. The dataset consists of a mixture of primary and secondary data such as weight, skull size, tail length, condition etc. and can be used in modelling studies for ecological and conservation research to monitor the sex ratio of this species. Validity was demonstrated by training and testing six machine learning models. This dataset has the potential to streamline sex determination, offering a non-invasive alternative to complement existing methods in V. salvator research, mitigating the need for invasive procedures. [ABSTRACT FROM AUTHOR]

Introduction:Various methods of identification such as anthropometry, stature estimation, dactylography, sex estimation, age estimation, DNA analysis, differentiation by blood groups and odontology are used in forensic medicine to create biological profile of an unknown individual. Estimation of sex is the first step towards identification of person. Determination of sex from skeletal remains is an essential task in medicolegal examination. Teeth are highly indestructible and reveal minimal turnover of natural substance hence teeth can be used for sex estimation.Mesiodistal parameter of mandibular and maxillary canine gave evidence of sex estimation due to sexual dimorphism. Aim: The aim of our study was to evaluate the sex estimation by mesiodistal width of mandibular canine and mesiodistal width of maxillary canine in north Indian population. Materials and Methods: The sample comprised of dental impression from 120 individuals (60 males and 60 females), all young adults between 20 and 35 years of age. Impressions of the teeth were made using irreversible hydrocolloid (alginate) material and casts poured in dental stone. Mesiodistal (MD) dimensions of mandibular and maxillary canine of both right and left side is measure by caliper. Results: Mean mandibular canine width of both right and left sidewere higher in male than female and were statistically significant whereas, mean maxillary canine width of both right and left side were slightly higher in male than female but were not statistically significant in young north Indian population. Left mandibular canine width (6%) was more sexually dimorphic than right mandibular canine width (5.1%). Whereas negligible sexual dimorphism shown by maxillary canine. Conclusion: The study confirmed that among maxillary and mandibular canine, mandibular canine can be used for sex estimation and shows significant sexual dimorphism. [ABSTRACT FROM AUTHOR]

Background. Corallium japonicum, a prized resource in Japan, plays a vital role in traditional arts and fishing industries. Because of diminished stock due to overexploitation, ongoing efforts are focused on restoration through transplantation. This study aimed to enhance our understanding of the reproductive biology of these valuable corals and find more efficient methods for sex determination, which may significantly contribute to conservation initiatives. Methods. We used 12 three-month aquarium reared C. japonicum colony fragments, conducted histological analysis for maturity and sex verification, and performed tran- scriptome analysis via de novo assembly and mapping using the C. rubrum transcrip- tome to explore gene expression differences between female and male C. japonicum. Results. Our histological observations enabled sex identification in 33% of incompletely mature samples. However, the sex of the remaining 67% of samples, classified as immature, could not be identified. RNA-seq yielded approximately 21-31 million short reads from 12 samples. De novo assembly yielded 404,439 highly expressed transcripts. Among them, 855 showed significant differential expression, with 786 differentially expressed transcripts between females and males. Heatmap analysis highlighted 283 female-specific and 525 male-specific upregulated transcripts. Transcriptome assembly mapped to C. rubrum yielded 28,092 contigs, leading to the identification of 190 highly differentially expressed genes, with 113 upregulated exclusively in females and 70 upregulated exclusively in males. Blastp analysis provided putative protein annotations for 83 female and 72 male transcripts. Annotation analysis revealed that female biological processes were related to oocyte proliferation and reproduction, whereas those in males were associated with cell adhesion. Discussion. Transcriptome analysis revealed sex-specific gene upregulation in incom- pletely mature C. japonicum and shared transcripts with C. rubrum, providing insight into its gene expression patterns. This study highlights the importance of using both de novo and reference-based assembly methods. Functional enrichment analysis showed that females exhibited enrichment in cell proliferation and reproduction pathways, while males exhibited enrichment in cell adhesion pathways. To the best of our knowledge, this is the first report on the gene expressions of each sex during the spawning season. Our findings offer valuable insights into the physiological ecology of incompletely mature red Japanese precious corals and suggest a method for identifying sex using various genes expressed in female and male individuals. In the future, techniques such as transplantation, artificial fertilization, and larval rearing may involve sex determination methods based on differences in gene expression to help conserve precious coral resources and ecosystems. [ABSTRACT FROM AUTHOR]

Background: Sex determination is essential in forensic science, anthropology, and medical diagnostics. Traditional methods, such as DNA analysis, are resource intensive and time-consuming. This pilot study explores the utility of oral rinse-based cytology for detecting Barr bodies in exfoliated oral mucosal cells from saliva as a more accessible and efficient alternative. Aim: This study aimed to assess the viability of rinse-based cytology in identifying sex through the detection of Barr bodies. Materials and Methods: In the study, 60 participants aged 20-30, free of lesions, and nonsmokers/nondrinkers, were evenly divided into male and female groups. Unstimulated saliva was collected from each participant between 9 and 10 am Participants were instructed to tilt their heads slightly forward to accumulate saliva and then spit into disposable sterile containers. After centrifugation, two smears were prepared and stained with Papanicolaou (PAP) and hematoxylin and eosin (H and E) stains. The smears were labeled (single-blinded) and examined for the presence of Barr body by two oral pathologists. Results: H and E stain had a mean Barr body count of 2.38 and a standard deviation of approximately 2.731, whereas PAP stain had a higher mean count of 3.57 with a standard deviation of 3.933. Levene's test showed significant differences (P = 0.000) in variances between the staining methods (F = 21.001, df = 118, P < 0.001), but the average Barr body count difference of about 1.183 with P = 0.058 was not statistically significant (P > 0.05). Conclusion: Oral rinse-based cytology offers a noninvasive, cost-effective, and time-efficient approach to sex determination. While this pilot study demonstrates its potential, further research involving larger and more diverse populations is required to validate its reliability fully. This innovative approach has the potential to impact various scientific and forensic disciplines, offering a practical alternative to traditional methods. [ABSTRACT FROM AUTHOR]