scholarly journals A male-specific role for SOX9 in vertebrate sex determination

Development ◽  
1996 ◽  
Vol 122 (9) ◽  
pp. 2813-2822 ◽  
Author(s):  
J. Kent ◽  
S.C. Wheatley ◽  
J.E. Andrews ◽  
A.H. Sinclair ◽  
P. Koopman
Keyword(s):  
Sex Determination ◽  
In Situ Hybridisation ◽  
Gonad Development ◽  
Adult Life ◽  
Cell Lineage ◽  
Polyclonal Antiserum ◽  
Cell Type Specificity ◽  
Sox9 Expression ◽  
Specific Expression ◽  
Male Specific

Mutation analyses of patients with campomelic dysplasia, a bone dysmorphology and XY sex reversal syndrome, indicate that the SRY-related gene SOX9 is involved in both skeletal development and sex determination. To clarify the role SOX9 plays in vertebrate sex determination, we have investigated its expression during gonad development in mouse and chicken embryos. In the mouse, high levels of Sox9 mRNA were found in male (XY) but not female (XX) genital ridges, and were localised to the sex cords of the developing testis. Purified fetal germ cells lacked Sox9 expression, indicating that Sox9 expression is specific to the Sertoli cell lineage. Sex specificity of SOX9 protein expression was confirmed using a polyclonal antiserum. The timing and cell-type specificity of Sox9 expression suggests that Sox9 may be directly regulated by SRY. Male-specific expression of cSOX9 mRNA during the sex determination period was also observed in chicken genital ridges. The conservation of sexually dimorphic expression in two vertebrate classes which have significant differences in their sex determination mechanisms, points to a fundamental role for SOX9 in testis determination in vertebrates. Sox9 expression was maintained in the mouse testis during fetal and adult life, but no expression was seen at any stage by in situ hybridisation in the developing ovary. Male-specific expression was also observed in the cells surrounding the Mullerian ducts and in the epididymis, and expression in both sexes was detected in the developing collecting ducts of the metanephric kidney. These results suggest that SOX9 may have a wider role in the development of the genitourinary system.

scholarly journals Vertebrate sex determination: many means to an end

Reproduction ◽  
2002 ◽  
pp. 447-457 ◽  
Author(s):  
BC Morrish ◽  
AH Sinclair
Keyword(s):  
Sex Determination ◽  
Regulatory Network ◽  
Gonadal Dysgenesis ◽  
Developmental Process ◽  
Gonad Development ◽  
Complex Interplay ◽  
Specific Expression ◽  
Sex Specificity ◽  
Bipotential Gonad

The differentiation of a testis or ovary from a bipotential gonadal primordium is a developmental process common to mammals, birds and reptiles. Since the discovery of SRY, the Y-linked testis-determining gene in mammals, extensive efforts have failed to find its orthologue in other vertebrates, indicating evolutionary plasticity in the switch that triggers sex determination. Several other genes are known to be important for sex determination in mammals, such as SOX9, AMH, WT1, SF1, DAX1 and DMRT1. Analyses of these genes in humans with gonadal dysgenesis, mouse models and using in vitro cell culture assays have revealed that sex determination results from a complex interplay between the genes in this network. All of these genes are conserved in other vertebrates, such as chickens and alligators, and show gonad-specific expression in these species during the period of sex determination. Intriguingly, the sequence, sex specificity and timing of expression of some of these genes during sex determination differ among species. This finding indicates that the interplay between genes in the regulatory network leading to gonad development differs between vertebrates. However, despite this, the development of a testis or ovary from a bipotential gonad is remarkably similar across vertebrates.

scholarly journals Distinct developmental mechanisms influence sexual dimorphisms in the milkweed bug Oncopeltus fasciatus

2021 ◽  
Author(s):  
Josefine Just ◽  
Mara Laslo ◽  
Ye Jin Lee ◽  
Michael C Yarnell ◽  
Zhuofan Zhang ◽  
...  
Keyword(s):  
Sex Determination ◽  
The Body ◽  
Oncopeltus Fasciatus ◽  
Sexually Dimorphic ◽  
Specific Expression ◽  
X Chromosomes ◽  
Milkweed Bug ◽  
Multiple Transcripts ◽  
Complex Protein ◽  
Male Specific

Sexual dimorphism is a common feature of animals. Sex determination mechanisms vary widely among species and evolve rapidly. Until recently studies have found consistent mechanisms across the body of each individual determine female or male dimorphic body structures. In sexually dimorphic cells throughout the body of Drosophila, the relative dosage of autosomes and X chromosomes leads indirectly to alternatively spliced transcripts from the gene doublesex. The female Dsx isoform interacts with the mediator complex protein encoded by intersex to activate female development in flies. In males the transcription factor encoded by fruitless promotes male-specific behavior. In the milkweed bug Oncopeltus fasciatus, we find a requirement for different combinations of these genes during development of distinct dimorphic structures, within the same sex, suggesting a previously unappreciated level of diversity in sex determination. While intersex and fruitless are structurally conserved, doublesex has a history of duplication and divergence among Paraneoptera. Three doublesex paralogs in O. fasciatus produce multiple transcripts with sex- and tissue-specific expression. intersex and fruitless are expressed across the body, in females and males. RNA interference reveals only one doublesex paralog functions in somatic sex determination. Knockdown of doublesex and fruitless produces intersex phenotypic conditions in two sexually dimorphic structures: genitalia and abdominal sternites. In contrast, intersex is required for dimorphic development of female and male genitalia, but not for sternite dimorphism. These results reveal sex determination roles for intersex and fruitless distinct from their orthologs in other insects. Our results illuminate a novel form of developmental diversity in insect sex determination.

scholarly journals Sox9-dependent expression of Gstm6 in Sertoli cells during testis development in mice

Reproduction ◽  
2009 ◽  
Vol 137 (3) ◽  
pp. 481-486 ◽  
Author(s):  
Annemiek Beverdam ◽  
Terje Svingen ◽  
Stefan Bagheri-Fam ◽  
Pascal Bernard ◽  
Peter McClive ◽  
...  
Keyword(s):  
Gonad Development ◽  
Cell Lineage ◽  
Somatic Tissue ◽  
Temporal Expression ◽  
Mouse Development ◽  
Adult Mice ◽  
Multifunctional Enzymes ◽  
Male Sex ◽  
Temporal Expression Pattern ◽  
Male Specific

Glutathione S-transferases (GSTs) are an important family of multifunctional enzymes that play a role in the protection of tissues by the detoxification of hazardous and carcinogenic compounds. We found previously that Gstm6 is upregulated in the somatic cells of male mouse fetal gonads relative to female gonads. In this study, we describe the spatial and temporal expression pattern of Gstm6 during mouse development. We show that Gstm6 is predominantly expressed in the reproductive system, at significantly higher levels in XY gonads compared with XX gonads from 11.5 dpc onwards, and remains expressed in the testes in adult mice. Its expression is associated with the Sertoli cell lineage, and is dependent on the expression of the male sex-determining gene Sox9. Our data suggest that Gstm6 plays a male-specific role in gonad development or function, possibly by modulating the exposure of somatic tissue and/or germ cells to endogenous or exogenous toxicants.

scholarly journals Male specific expression suggests role of DMRT1 in human sex determination

2000 ◽  
Vol 91 (1-2) ◽  
pp. 323-325 ◽  
Author(s):  
Brigitte Moniot ◽  
Philippe Berta ◽  
Gerd Scherer ◽  
Peter Südbeck ◽  
Francis Poulat
Keyword(s):  
Sex Determination ◽  
Specific Expression ◽  
Male Specific

scholarly journals Dissecting gonadal cell lineage specification and sex determination during human development using a single-cell transcriptomics approach

2020 ◽  
Author(s):  
Fuchou Tang ◽  
Rui Wang ◽  
Xixi Liu ◽  
Li Li ◽  
Ming Yang ◽  
...  
Keyword(s):  
Sex Determination ◽  
Sertoli Cells ◽  
Leydig Cells ◽  
Receptor Gene ◽  
Somatic Cells ◽  
Gonad Development ◽  
Cell Lineage ◽  
Human Embryos ◽  
Developmental Defects ◽  
Steroidogenic Cell

Abstract Gonadal somatic cells are the main players in gonad development and are important for sex determination and germ cell development. Here, using a time-series scRNA-seq strategy, we analyzed the fetal germ cells (FGCs) and gonadal somatic cells in human embryos and fetuses. Clustering analysis of testes and ovaries revealed several novel cell subsets, including POU5F1+SPARC+ FGCs and KRT19+ somatic cells. Furthermore, our data indicated that DLK1+ cells may be the progenitors of steroidogenic cell lineages in both sexes and that TAC1+ cells may be the progenitors of granulosa cells in females. Intriguingly, the testosterone synthesis function transitioned from fetal Sertoli cells to adult Leydig cells in a step-wise manner. Moreover, interactions between gonadal somatic cells were systematically explored and verified in our study. In detail, we observed that Sertoli cells interacted with Leydig cells through DHH-PTCH1 and PDGFA-PDGFRA/PDGFRB ligand-receptor gene pairs. More importantly, we identified cell type-specific developmental defects of both FGCs and gonadal somatic cells in a Turner syndrome embryo (45, XO). Our work provides a blueprint of the complex yet highly ordered development and interactions of human FGCs and gonadal microenvironment cells.

On the evolution of sex determination

1987 ◽  
Vol 232 (1267) ◽  
pp. 159-180 ◽  
Keyword(s):  
Sex Determination ◽  
Sex Chromosome ◽  
Transplantation Antigen ◽  
Specific Cell ◽  
Serological Tests ◽  
Specific Expression ◽  
Heterogametic Sex ◽  
Taxonomic Groups ◽  
Male Specific ◽  
Specific Cell Surface

Female mice reject skin grafts from intrastrain males because of the H-Y transplantation antigen. Those females produce antibodies that recognize a male-specific cell-surface antigen in serological tests. The serological antigen has also been called ‘H-Y’, but there is evidence that the two antigens are distinct. We therefore refer to the transplantation antigen as H-Yt, or transplantation H-Y, and to the serological antigen as serological H-Y, or simply H-Y, without prejudice whether these are the same or related or separate antigens. In this study, sex-specific expression of serological H-Y antigen was found in 25 new vertebrate species representing each of seven major vertebrate classes.There was a strong correlation between expression of H-Y and occurrence of the heterogametic-type gonad, although unusual patterns of H-Y expression were noted in cases of temperature-influenced sex determination and in systems representing possible transition from one mode of heterogamety to the other. Male and female heterogamety are found side-by-side in certain freshwater toothed carps; and distinct sex chromosomes have been recognized in certain amphibians, even though they are not apparent in certain reptiles and primitíve birds. In seven ophidian species, in which the female is the heterogametic sex, H-Y was detected in the female; and in three species of Ranidae in which the male is heterogametic, it was detected in the male. In three species of cartilaginous fish and in one of the cyclostomes, in which heterogamety has not been ascertained, H-Y was detected in the male, suggesting that those primitive fishes are male-heterogametic. Evidently, then, heterogamety and sex-chromosome heteromorphism are polyphyletic, although certain sex-determining genes may be held in common among the diverse taxonomic groups.

scholarly journals Male-specific expression ofAldh1a1in mouse and chicken fetal testes: Implications for retinoid balance in gonad development

2009 ◽  
Vol 238 (8) ◽  
pp. 2073-2080 ◽  
Author(s):  
Josephine Bowles ◽  
Chun-Wei Feng ◽  
Deon Knight ◽  
Craig A. Smith ◽  
Kelly N. Roeszler ◽  
...  
Keyword(s):  
Gonad Development ◽  
Specific Expression ◽  
Male Specific

scholarly journals Heterochiasmy facilitated the establishment of gsdf as a novel sex determining gene in Atlantic halibut

2020 ◽  
Author(s):  
Rolf Brudvik Edvardsen ◽  
Ola Wallerman ◽  
Tomasz Furmanek ◽  
Lene Kleppe ◽  
Patric Jern ◽  
...  
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Meiotic Recombination ◽  
Sequence Divergence ◽  
Atlantic Halibut ◽  
Specific Expression ◽  
Repeat Class ◽  
Determination System ◽  
Sex Determination System ◽  
Male Specific

Atlantic Halibut (Hippoglossus hippoglossus) has a X/Y genetic sex determination system, but the sex determining factor is not known. We produced a high-quality genome assembly and identified parts of chromosome 13 as the Y chromosome due to sequence divergence between sexes and segregation of sex genotypes in pedigrees. Linkage analysis revealed that all chromosomes exhibit heterochiasmy, i.e. male- and female restricted meiotic recombination intervals (MRR/FRR). We show that FRR/MRR intervals differ in nucleotide diversity and repeat class content and that this is true also for other Pleuronectidae species. We further show that remnants of a Gypsy-like transposable element insertion on chr13 promotes early male specific expression of gonadal somatic cell derived factor (gsdf). Less than 4 MYA, this male-determining element evolved on an autosomal FRR segment featuring pre-existing male meiotic recombination barriers, thereby creating a Y chromosome. We propose that heterochiasmy may facilitate the evolution of genetic sex determination systems.

scholarly journals RIP140 Represses Intestinal Paneth Cell Differentiation and Interplays with SOX9 Signaling in Colorectal Cancer

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3192
Author(s):  
Antoine Gleizes ◽  
Mouna Triki ◽  
Sandrine Bonnet ◽  
Naomi Baccari ◽  
Gabriel Jimenez-Dominguez ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cell Differentiation ◽  
Paneth Cell ◽  
Wnt Signaling Pathway ◽  
Cell Lineage ◽  
Human Colon ◽  
Luciferase Reporter ◽  
Loss Of Function ◽  
Sox9 Expression ◽  
Human Colon Cancer

RIP140 is a major transcriptional coregulator of gut homeostasis and tumorigenesis through the regulation of Wnt/APC signaling. Here, we investigated the effect of RIP140 on Paneth cell differentiation and its interplay with the transcription factor SOX9. Using loss of function mouse models, human colon cancer cells, and tumor microarray data sets we evaluated the role of RIP140 in SOX9 expression and activity using RT-qPCR, immunohistochemistry, luciferase reporter assays, and GST-pull down. We first evidence that RIP140 strongly represses the Paneth cell lineage in the intestinal epithelium cells by inhibiting Sox9 expression. We then demonstrate that RIP140 interacts with SOX9 and inhibits its transcriptional activity. Our results reveal that the Wnt signaling pathway exerts an opposite regulation on SOX9 and RIP140. Finally, the levels of expression of RIP140 and SOX9 exhibit a reverse response and prognosis value in human colorectal cancer biopsies. This work highlights an intimate transcriptional cross-talk between RIP140 and SOX9 in intestinal physiopathology.

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