SOX Genes and Their Role in Disorders of Sex Development

Rajini Sreenivasan, Nitzan Gonen, Andrew Sinclair

Research output: Contribution to journalReview articlepeer-review

16 Scopus citations

Abstract

SOX genesare master regulatory genes controlling development and are fundamental to the establishment of sex determination in a multitude of organisms. The discovery of the master sex-determining gene SRY in 1990 was pivotal for the understanding of how testis development is initiated in mammals. With this discovery, an entire family of SOX factors were uncovered that play crucial roles in cell fate decisions during development. The importance of SOX genes in human reproductive development is evident from the various disorders of sex development (DSD) upon loss or overexpression of SOX gene function. Here, we review the roles that SOX genes play in gonad development and their involvement in DSD. We start with an overview of sex determination and differentiation, DSDs, and the SOX gene family and function. We then provide detailed information and discussion on SOX genes that have been implicated in DSDs, both at the gene and regulatory level. These include SRY, SOX9, SOX3, SOX8, and SOX10. This review provides insights on the crucial balance of SOX gene expression levels needed for gonad development and maintenance and how changes in these levels can lead to DSDs.

Original languageEnglish
Pages (from-to)80-91
Number of pages12
JournalSexual Development
Volume16
Issue number2-3
DOIs
StatePublished - 1 Nov 2022

Bibliographical note

Publisher Copyright:
© 2022 S. Karger AG, Basel. Copyright: All rights reserved.

Funding

This work was supported by the National Health and Medical Research Council (NHMRC) Research Fellowship 1154187 and Program Grant 546517 (to A.S.), NHMRC Early Career Fellowship 1126995 and Endocrine Society of Australia Postdoctoral Award (to R.S.), and the Victorian Government’s Operational Infrastructure Support Program. This work is also supported by the Israeli Science Foundation Grant 710/20 (to N.G.).

FundersFunder number
National Health and Medical Research Council546517, 1154187, 1126995
Endocrine Society of Australia
Israel Science Foundation710/20
State Government of Victoria

    Keywords

    • Disorders of sex development
    • SOX genes
    • SOX9
    • SRY
    • Sex determination/differentiation

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