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SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

Lookup NU author(s): Dr Neil Hanley, Dr Donna Hagan, Dr Mark Clement-Jones, Dr Stephen Ball, Professor Tom Strachan, Emerita Professor Susan Lindsay, Dr David Wilson


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SRY, SOX9, and DAX1 are key genes in human sex determination, by virtue of their associated male-to-female sex reversal phenotypes when mutated (SRY, SOX9) or over-expressed (DAX1). During human sex determination, SRY is expressed in 46,XY gonads coincident with sex cord formation, but also persists as nuclear protein within Sertoli cells at 18 weeks gestation. High- level SOX9 expression in the sex cords of the testis parallels that seen during mouse development, however in humans, SOX9 transcripts also are detected in the developing ovary. Low-level DAX1 expression predates peak SRY expression by at least 10 days, and persists in Sertoli cells throughout the entire sex determination period. In Dosage Sensitive Sex reversal, the anti- testis properties of DAX1 over-expression could act prior to the peak effects of SRY and continue during the period of SOX9 expression. These findings highlight expression differences for the SRY, SOX9, and DAX1 genes during sex determination in humans and mice. These results provide a direct framework for future investigation into the mechanisms underlying normal and abnormal human sex determination. (C) 2000 Elsevier Science Ireland Ltd.

Publication metadata

Author(s): Lindsay S; Ball SG; Strachan T; Hagan DM; Hanley NA; Clement-Jones M; Bullen P; Ostrer H; Wilson DI; Salas-Cortes L; McElreavey K; Robson S

Publication type: Article

Publication status: Published

Journal: Mechanisms of Development

Year: 2000

Volume: 91

Issue: 1-2

Pages: 403-407

ISSN (print): 0925-4773

ISSN (electronic): 1872-6356

Publisher: Elsevier


DOI: 10.1016/S0925-4773(99)00307-X

PubMed id: 10704874


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Funder referenceFunder name
G9826762Medical Research Council