Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)

The gonads are unique among the body’s organs in having a developmental choice: testis or ovary formation. Gonadal sex differentiation involves common progenitor cells that form either Sertoli and Leydig cells in the testis or granulosa and thecal cells in the ovary. Single-cell analysis is now shed...

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Main Authors: Martin A. Estermann, Craig A. Smith
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/21/18/6614
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author Martin A. Estermann
Craig A. Smith
author_facet Martin A. Estermann
Craig A. Smith
author_sort Martin A. Estermann
collection DOAJ
description The gonads are unique among the body’s organs in having a developmental choice: testis or ovary formation. Gonadal sex differentiation involves common progenitor cells that form either Sertoli and Leydig cells in the testis or granulosa and thecal cells in the ovary. Single-cell analysis is now shedding new light on how these cell lineages are specified and how they interact with the germline. Such studies are also providing new information on gonadal maturation, ageing and the somatic-germ cell niche. Furthermore, they have the potential to improve our understanding and diagnosis of Disorders/Differences of Sex Development (DSDs). DSDs occur when chromosomal, gonadal or anatomical sex are atypical. Despite major advances in recent years, most cases of DSD still cannot be explained at the molecular level. This presents a major pediatric concern. The emergence of single-cell genomics and transcriptomics now presents a novel avenue for DSD analysis, for both diagnosis and for understanding the molecular genetic etiology. Such -omics datasets have the potential to enhance our understanding of the cellular origins and pathogenesis of DSDs, as well as infertility and gonadal diseases such as cancer.
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spelling doaj.art-47c802a7e763429d832d8af80302f1312023-11-20T13:11:19ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-09-012118661410.3390/ijms21186614Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)Martin A. Estermann0Craig A. Smith1Department of Anatomy and Developmental Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton 3800, Victoria, AustraliaDepartment of Anatomy and Developmental Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton 3800, Victoria, AustraliaThe gonads are unique among the body’s organs in having a developmental choice: testis or ovary formation. Gonadal sex differentiation involves common progenitor cells that form either Sertoli and Leydig cells in the testis or granulosa and thecal cells in the ovary. Single-cell analysis is now shedding new light on how these cell lineages are specified and how they interact with the germline. Such studies are also providing new information on gonadal maturation, ageing and the somatic-germ cell niche. Furthermore, they have the potential to improve our understanding and diagnosis of Disorders/Differences of Sex Development (DSDs). DSDs occur when chromosomal, gonadal or anatomical sex are atypical. Despite major advances in recent years, most cases of DSD still cannot be explained at the molecular level. This presents a major pediatric concern. The emergence of single-cell genomics and transcriptomics now presents a novel avenue for DSD analysis, for both diagnosis and for understanding the molecular genetic etiology. Such -omics datasets have the potential to enhance our understanding of the cellular origins and pathogenesis of DSDs, as well as infertility and gonadal diseases such as cancer.https://www.mdpi.com/1422-0067/21/18/6614DSDsex differentiationgonadovarytestissingle-cell
spellingShingle Martin A. Estermann
Craig A. Smith
Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)
International Journal of Molecular Sciences
DSD
sex differentiation
gonad
ovary
testis
single-cell
title Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)
title_full Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)
title_fullStr Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)
title_full_unstemmed Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)
title_short Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)
title_sort applying single cell analysis to gonadogenesis and dsds disorders differences of sex development
topic DSD
sex differentiation
gonad
ovary
testis
single-cell
url https://www.mdpi.com/1422-0067/21/18/6614
work_keys_str_mv AT martinaestermann applyingsinglecellanalysistogonadogenesisanddsdsdisordersdifferencesofsexdevelopment
AT craigasmith applyingsinglecellanalysistogonadogenesisanddsdsdisordersdifferencesofsexdevelopment