Mammalian sex determination—insights from humans and mice

Eggers, Stefanie; Sinclair, Andrew H.

doi:10.1007/s10577-012-9274-3

Cited by 151 publications

(104 citation statements)

References 189 publications

(240 reference statements)

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“…Wt1 is initially expressed in multiple embryonic tissues, including the mesonephros and XX and XY gonadal somatic cells. Mutation of Wt1/WT1 in mice and humans leads to kidney and genitourinary defects, including disorders of sexual development (Kreidberg et al, 1993;Eggers and Sinclair, 2012). After sex determination, Wt1 expression becomes restricted to Sertoli cells in the testis and remains active in most somatic cells in XX gonads (Pelletier et al, 1991;Armstrong et al, 1993;Maatouk et al, 2012).…”

Section: Dnasei-seq Identifies a Novel Enhancer Of Sertoli Cell Genementioning

confidence: 99%

“…The process of sex determination occurs in gonad progenitor cells whose differentiation controls the sexual fate of the organism. Although genetic sex (XY/XX) is established upon fertilization, these innate chromosomal differences do not produce phenotypic differences in male or female early embryos (Eggers and Sinclair, 2012). Instead, sexual dimorphism is initiated in the early gonad supporting cells, a single cell lineage that differentiates into Sertoli (XY) (Sekido et al, 2004) or pregranulosa (XX) cells (Albrecht and Eicher, 2001;Mork et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

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Genome-wide identification of regulatory elements in Sertoli cells

et al. 2017

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A current goal of molecular biology is to identify transcriptional networks that regulate cell differentiation. However, identifying functional gene regulatory elements has been challenging in the context of developing tissues where material is limited and cell types are mixed. To identify regulatory sites during sex determination, we subjected Sertoli cells from mouse fetal testes to DNaseI-seq and ChIP-seq for H3K27ac. DNaseI-seq identified putative regulatory sites around genes enriched in Sertoli and pregranulosa cells; however, active enhancers marked by H3K27ac were enriched proximal to only Sertoli-enriched genes. Sequence analysis identified putative binding sites of known and novel transcription factors likely controlling Sertoli cell differentiation. As a validation of this approach, we identified a novel Sertoli cell enhancer upstream of Wt1, and used it to drive expression of a transgenic reporter in Sertoli cells. This work furthers our understanding of the complex genetic network that underlies sex determination and identifies regions that potentially harbor non-coding mutations underlying disorders of sexual development.

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Section: Dnasei-seq Identifies a Novel Enhancer Of Sertoli Cell Genementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genome-wide identification of regulatory elements in Sertoli cells

et al. 2017

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“…Since that time, much has been learned regarding the genetic networks responsible for orchestrating testis development, far more so than ovary development. This progress has been reviewed extensively elsewhere (Brennan and Capel 2004;Wilhelm et al 2007b;Eggers and Sinclair 2012;Quinn and Koopman 2012;Warr and Greenfield 2012) and is not reiterated here.…”

mentioning

confidence: 98%

Building the mammalian testis: origins, differentiation, and assembly of the component cell populations

2013

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Development of testes in the mammalian embryo requires the formation and assembly of several cell types that allow these organs to achieve their roles in male reproduction and endocrine regulation. Testis development is unusual in that several cell types such as Sertoli, Leydig, and spermatogonial cells arise from bipotential precursors present in the precursor tissue, the genital ridge. These cell types do not differentiate independently but depend on signals from Sertoli cells that differentiate under the influence of transcription factors SRY and SOX9. While these steps are becoming better understood, the origins and roles of many testicular cell types and structures—including peritubular myoid cells, the tunica albuginea, the arterial and venous blood vasculature, lymphatic vessels, macrophages, and nerve cells—have remained unclear. This review synthesizes current knowledge of how the architecture of the testis unfolds and highlights the questions that remain to be explored, thus providing a roadmap for future studies that may help illuminate the causes of XY disorders of sex development, infertility, and testicular cancers.

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“…There are potentially novel genes and alternative pathways may play that lead to gonadal formation and differentiation, it is not always possible to identify the causes of the disorders. [7][8][9] Consequently, the scope of molecular genetic analysis has markedly expanded. In Indonesia laboratory with molecular diagnosis facilities is very rare and advanced molecular testing are only available in big cities.…”

Section: Discussionmentioning

confidence: 99%

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Listyasari

Santosa

Juniarto

et al. 2017

J. Biomed. Transl. Res.

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Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis and appropriate gender assignment. Objectives : The purpose of the study was to report the management of DSD patients in Indonesia with regards to minimal diagnostic facilities and expertise in developing country. Methodology : We analyzed DSD patients managed by Sexual Adjustment Multidisciplinary Team (SAT) through the record at Center for Biomedical Research Faculty of Medicine Diponegoro University, from May 2004 -December 2015 and bimonthly multidisciplinary SAT meeting. The team was consist of endocrinologist, andrologist, urologist, plastic surgeon, gynaecologist, anesthesiologist, medical geneticist, psychiatrist, psychologist, pathology, legal medicine, religion and social-medical staffs. Data were grouped by diagnosis that based on physical examination, family pedigree, karyotyping, hormonal assays and other examination such as ultrasonography, X-ray, and cytoscopy for selected cases. Results : From the total of 617 cases we found 426 cases with 46,XY DSD (69.04 %), 117 cases with 46,XX DSD (18.96%), and 74 cases with sex chromosome DSD (12%). Most of the patients in the group of 46,XY DSD were Unknown Male Undervirilization (60.09%) followed by Congenital Adrenal Hyperplasia (69.23%) in 46, XX DSD group. Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities.

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Mammalian sex determination—insights from humans and mice

Cited by 151 publications

References 189 publications

Genome-wide identification of regulatory elements in Sertoli cells

Genome-wide identification of regulatory elements in Sertoli cells

Building the mammalian testis: origins, differentiation, and assembly of the component cell populations

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

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