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Kamila Kuszzamelczyk - One of the best experts on this subject based on the ideXlab platform.
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the gene encoding the ketogenic enzyme hmgcs2 displays a unique expression during Gonad Development in mice
PLOS ONE, 2020Co-Authors: Stefa Agherifam, Huiju Che, Sea M Wilso, Katie L Ayers, James N Hughes, Frederique Sloanbena, Pierre Calvel, Gorjana Robevska, Eatriz Puisac, Kamila KuszzamelczykAbstract:Disorders/differences of sex Development (DSD) cause profound psychological and reproductive consequences for the affected individuals, however, most are still unexplained at the molecular level. Here, we present a novel gene, 3-hydroxy-3-methylglutaryl coenzyme A synthase 2 (HMGCS2), encoding a metabolic enzyme in the liver important for energy production from fatty acids, that shows an unusual expression pattern in developing fetal mouse Gonads. Shortly after Gonadal sex determination it is up-regulated in the developing testes following a very similar spatial and temporal pattern as the male-determining gene Sry in Sertoli cells before switching to ovarian enriched expression. To test if Hmgcs2 is important for Gonad Development in mammals, we pursued two lines of investigations. Firstly, we generated Hmgcs2-null mice using CRISPR/Cas9 and found that these mice had Gonads that developed normally even on a sensitized background. Secondly, we screened 46,XY DSD patients with Gonadal dysgenesis and identified two unrelated patients with a deletion and a deleterious missense variant in HMGCS2 respectively. However, both variants were heterozygous, suggesting that HMGCS2 might not be the causative gene. Analysis of a larger number of patients in the future might shed more light into the possible association of HMGCS2 with human Gonadal Development.
Jacek Z Kubiak - One of the best experts on this subject based on the ideXlab platform.
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The Central Role of Cadherins in Gonad Development, Reproduction, and Fertility
International Journal of Molecular Sciences, 2020Co-Authors: Rafal P Piprek, Malgorzata Kloc, Paulina Mizia, Jacek Z KubiakAbstract:Cadherins are a group of membrane proteins responsible for cell adhesion. They are crucial for cell sorting and recognition during the morphogenesis, but they also play many other roles such as assuring tissue integrity and resistance to stretching, mechanotransduction, cell signaling, regulation of cell proliferation, apoptosis, survival, carcinogenesis, etc. Within the cadherin superfamily, E- and N-cadherin have been especially well studied. They are involved in many aspects of sexual Development and reproduction, such as germline Development and gametogenesis, Gonad Development and functioning, and fertilization. E-cadherin is expressed in the primordial germ cells (PGCs) and also participates in PGC migration to the developing Gonads where they become enclosed by the N-cadherin-expressing somatic cells. The differential expression of cadherins is also responsible for the establishment of the testis or ovary structure. In the adult testes, N-cadherin is responsible for the integrity of the seminiferous epithelium, regulation of sperm production, and the establishment of the blood-testis barrier. Sex hormones regulate the expression and turnover of N-cadherin influencing the course of spermatogenesis. In the adult ovaries, E- and N-cadherin assure the integrity of ovarian follicles and the formation of corpora lutea. Cadherins are expressed in the mature gametes and facilitate the capacitation of sperm in the female reproductive tract and gamete contact during fertilization. The germ cells and accompanying somatic cells express a series of different cadherins; however, their role in Gonads and reproduction is still unknown. In this review, we show what is known and unknown about the role of cadherins in the germline and Gonad Development, and we suggest topics for future research.
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transcriptional profiling validates involvement of extracellular matrix and proteinases genes in mouse Gonad Development
Mechanisms of Development, 2018Co-Authors: Rafal P Piprek, Michal Kolasa, Dagmara Podkowa, Malgorzata Kloc, Jacek Z KubiakAbstract:Extracellular matrix (ECM) plays an important scaffolding role in the establishment of organs structure during Development. A great number of ECM components and enzymes (proteinases) regulating formation/degradation of ECM during organ remodeling have been identified. In order to study the role of ECM in the mouse Gonad Development, especially during sexual differentiation of the Gonads when the structure of the testis and ovary becomes established, we performed a global analysis of transcriptome in three main cell types of developing Gonad (supporting, interstitial/stromal and germ cells) using transgenic mice, cell sorting and microarray. The genes coding for ECM components were mostly expressed in two Gonadal cell lines: supporting and interstitial/stromal cells. These two cell lines differed in the expression pattern of ECM components, which suggests that ECM components might be crucial for differentiation of Gonad compartments (for example testis cords vs. interstitium in XY Gonads). Collagens and proteoglycans coding genes were mainly expressed in the interstitium/stromal cells, while non-collagen glycoproteins and matricellular coding genes were expressed in both cell lines. We also analyzed the expression of genes encoding ECM enzymes that are secreted to the ECM where they remodel the scaffolding of developing organs. We found that the ECM enzyme genes were also mostly expressed in supporting and interstitial/stromal cells. In contrast to the somatic cells, the germ cells expressed only limited number of ECM components and enzymes. This suggests that the germ line cells do not participate, or play only a minor role, in the sculpting of the Gonad structure via ECM synthesis and remodeling. Importantly, the supporting cells showed the sex-specific pattern of expression of ECM components. However, the pattern of expression of most ECM enzymes in the somatic and germ cells is independent on the sex of the Gonad. Further studies are required to elucidate the exact roles of identified genes in sexual differentiation of the Gonads.
Neil J. Gemmell - One of the best experts on this subject based on the ideXlab platform.
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Histological and transcriptomic effects of 17α-methyltestosterone on zebrafish Gonad Development
BMC Genomics, 2017Co-Authors: Julia A. Horsfield, Michael A. Black, Kim Rutherford, Amanda Fisher, Neil J. GemmellAbstract:Background Sex hormones play important roles in teleost ovarian and testicular Development. In zebrafish, ovarian differentiation appears to be dictated by an oocyte-derived signal via Cyp19a1a aromatase-mediated estrogen production. Androgens and aromatase inhibitors can induce female-to-male sex reversal, however, the mechanisms underlying Gonadal masculinisation are poorly understood. We used histological analyses together with RNA sequencing to characterise zebrafish Gonadal transcriptomes and investigate the effects of 17α-methyltestosterone on Gonadal differentiation. Results At a morphological level, 17α-methyltestosterone (MT) masculinised Gonads and accelerated spermatogenesis, and these changes were paralleled in masculinisation and de-feminisation of Gonadal transcriptomes. MT treatment upregulated expression of genes involved in male sex determination and differentiation ( amh , dmrt1 , gsdf and wt1a ) and those involved in 11-oxygenated androgen production ( cyp11c1 and hsd11b2 ). It also repressed expression of ovarian Development and folliculogenesis genes ( bmp15 , gdf9 , figla , zp2.1 and zp3b ). Furthermore, MT treatment altered epigenetic modification of histones in zebrafish Gonads. Contrary to expectations, higher levels of cyp19a1a or foxl2 expression in control ovaries compared to MT-treated testes and control testes were not statistically significant during early Gonad Development (40 dpf). Conclusion Our study suggests that both androgen production and aromatase inhibition are important for androgen-induced Gonadal masculinisation and natural testicular differentiation in zebrafish.
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Histological and transcriptomic effects of 17α-methyltestosterone on zebrafish Gonad Development.
BMC genomics, 2017Co-Authors: Stephanie Ling Jie Lee, Julia A. Horsfield, Michael A. Black, Kim Rutherford, Amanda Fisher, Neil J. GemmellAbstract:Sex hormones play important roles in teleost ovarian and testicular Development. In zebrafish, ovarian differentiation appears to be dictated by an oocyte-derived signal via Cyp19a1a aromatase-mediated estrogen production. Androgens and aromatase inhibitors can induce female-to-male sex reversal, however, the mechanisms underlying Gonadal masculinisation are poorly understood. We used histological analyses together with RNA sequencing to characterise zebrafish Gonadal transcriptomes and investigate the effects of 17α-methyltestosterone on Gonadal differentiation. At a morphological level, 17α-methyltestosterone (MT) masculinised Gonads and accelerated spermatogenesis, and these changes were paralleled in masculinisation and de-feminisation of Gonadal transcriptomes. MT treatment upregulated expression of genes involved in male sex determination and differentiation (amh, dmrt1, gsdf and wt1a) and those involved in 11-oxygenated androgen production (cyp11c1 and hsd11b2). It also repressed expression of ovarian Development and folliculogenesis genes (bmp15, gdf9, figla, zp2.1 and zp3b). Furthermore, MT treatment altered epigenetic modification of histones in zebrafish Gonads. Contrary to expectations, higher levels of cyp19a1a or foxl2 expression in control ovaries compared to MT-treated testes and control testes were not statistically significant during early Gonad Development (40 dpf). Our study suggests that both androgen production and aromatase inhibition are important for androgen-induced Gonadal masculinisation and natural testicular differentiation in zebrafish.
Yueling Zhang - One of the best experts on this subject based on the ideXlab platform.
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A Novel Imprinted Gene (Sp-Pol) With Sex-Specific SNP Locus and Sex-Biased Expression Pattern Provides Insights Into the Gonad Development of Mud Crab (Scylla paramamosain)
'Frontiers Media SA', 2021Co-Authors: Ardavan Farhadi, Xi Shi, Yin Zhang, Yueling ZhangAbstract:Identification and exploring the role of novel sex-related genes is a crucial step for understanding the regulation mechanism of sexual Development. In the present study, we identified a novel sex-related gene (designated as Sp-Pol) upstream of a sex-specific single nucleotide polymorphism (SNP). SNP1888 together with Sp-Pol were mapped on LG32 (which is a sex-related linkage group) of a high-density genetic map. The full-length cDNA of Sp-Pol consists of 1703 bp with an open reading frame (ORF) encoding 204 amino acids, a 344 bp 5′-UTR and a 744 bp 3′-UTR. Phylogenetic analysis showed that Sp-Pol may need to be classified as a new gene family due to the very low sequence identity with other known genes (less than 25% identity). The sex-biased expression pattern of Sp-Pol starts from crablet stage V (C5) with approximately three- to four-fold higher in males than in females. Sp-Pol was expressed at a higher level in Gonads compared to other tissues, with the highest expression level in the testis. In testis, a downward trend was observed in the expression level of Sp-Pol from the testis stage I (T1) to testis stage III (T3). After unilateral eyestalk ablation, the expression level of Sp-Pol significantly increased in testis and hepatopancreas in males, while it was downregulated in the hepatopancreas of females. Fluorescence in situ hybridization (FISH) assay revealed that Sp-Pol transcripts were strongly localized in the epithelia of seminiferous tubules of the testis, and in the ovary, it was detected in the oogonium cells. These findings showed that Sp-Pol may play crucial roles in the Gonad Development of S. paramamosain
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Data_Sheet_1_A Novel Imprinted Gene (Sp-Pol) With Sex-Specific SNP Locus and Sex-Biased Expression Pattern Provides Insights Into the Gonad Development of Mud Crab (Scylla paramamosain).docx
'Frontiers Media SA', 2021Co-Authors: Ardavan Farhadi, Xi Shi, Yin Zhang, Yueling Zhang, Huaiping Zheng, Mhd IkhwanuddinAbstract:Identification and exploring the role of novel sex-related genes is a crucial step for understanding the regulation mechanism of sexual Development. In the present study, we identified a novel sex-related gene (designated as Sp-Pol) upstream of a sex-specific single nucleotide polymorphism (SNP). SNP1888 together with Sp-Pol were mapped on LG32 (which is a sex-related linkage group) of a high-density genetic map. The full-length cDNA of Sp-Pol consists of 1703 bp with an open reading frame (ORF) encoding 204 amino acids, a 344 bp 5′-UTR and a 744 bp 3′-UTR. Phylogenetic analysis showed that Sp-Pol may need to be classified as a new gene family due to the very low sequence identity with other known genes (less than 25% identity). The sex-biased expression pattern of Sp-Pol starts from crablet stage V (C5) with approximately three- to four-fold higher in males than in females. Sp-Pol was expressed at a higher level in Gonads compared to other tissues, with the highest expression level in the testis. In testis, a downward trend was observed in the expression level of Sp-Pol from the testis stage I (T1) to testis stage III (T3). After unilateral eyestalk ablation, the expression level of Sp-Pol significantly increased in testis and hepatopancreas in males, while it was downregulated in the hepatopancreas of females. Fluorescence in situ hybridization (FISH) assay revealed that Sp-Pol transcripts were strongly localized in the epithelia of seminiferous tubules of the testis, and in the ovary, it was detected in the oogonium cells. These findings showed that Sp-Pol may play crucial roles in the Gonad Development of S. paramamosain.
Valentine A. Agbor - One of the best experts on this subject based on the ideXlab platform.
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sex specific differences in mouse dmrt1 expression are both cell type and stage dependent during Gonad Development
Biology of Reproduction, 2007Co-Authors: Ning Lei, Daren A Rice, Kaori I Hornbaker, Tatiana S Karpova, Valentine A. AgborAbstract:Immunohistochemistry was used to examine GCNA1, a germ cell-specific protein, together with DMRT1 (Doublesex and Mab-3-related transcription factor-1), a transcription factor implicated in Sertoli cell and germ cell function, in order to resolve DMRT1's cellular profile during pre- and postnatal Gonad Development in the mouse. In the indifferent Gonad (10.5-11.5 days postcoitus [dpc]), DMRT1 localized to somatic cells and GCNA1(+) germ cells and was indistinguishable in males and females. By 12.5 dpc, a clear sexual preference for DMRT1 in male somatic cells was observed, with male DMRT1 localized to testicular cords and more abundant in Sertoli cells than in germ cells and female DMRT1 diffusely labeled and markedly lower in somatic cells than in germ cells. A male somatic preference continued throughout Development, with DMRT1 evident in Sertoli cells at all ages examined and absent in ovarian somatic cells from 13.5 dpc onward. In contrast, expression in primordial germ cells was not sexually distinct, and both sexes showed DMRT1 increasing through 13.5 dpc and absent by 15.5 dpc. Notably, sexual differences in germ cell DMRT1 were detected after birth, when it was detected only in spermatogonia of the testis. Colocalization of DMRT1 with proliferation markers KI67 and proliferating cell nuclear antigen (PCNA) and stem cell markers OCT4 (also known as POU5F1) and NGN3 indicated that, in postnatal testes, DMRT1 was present in both stem and proliferating spermatogonia. Together, the findings implicate opposite functions for DMRT1 in somatic and germ cells of the testis. In Sertoli cells, DMRT1 expression correlated with differentiation, whereas in germ cells, it suggested a role in expansion and maintenance of undifferentiated spermatogonia.