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

N. A. Hanley, D. M. Hagan, M. Clement-Jones, S. G. Ball, T. Strachan, L. Salas-Cortés, K. McElreavey, S. Lindsay, S. Robson, P. Bullen, Harry Ostrer, D. I. Wilson

Research output: Contribution to journalArticle

181 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)403-407
Number of pages5
JournalMechanisms of Development
Volume91
Issue number1-2
DOIs
StatePublished - Mar 1 2000
Externally publishedYes

Fingerprint

Sertoli Cells
Testis
Gonads
Nuclear Proteins
Prednisolone
Genes
Ovary
Phenotype
Pregnancy
Dosage-sensitive sex reversal

Keywords

  • DAX1
  • Embryogenesis
  • Human
  • Ovary
  • Sex determination
  • SOX9
  • SRY
  • Testis

ASJC Scopus subject areas

  • Developmental Biology
  • Developmental Neuroscience

Cite this

Hanley, N. A., Hagan, D. M., Clement-Jones, M., Ball, S. G., Strachan, T., Salas-Cortés, L., ... Wilson, D. I. (2000). SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mechanisms of Development, 91(1-2), 403-407. https://doi.org/10.1016/S0925-4773(99)00307-X

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. / Hanley, N. A.; Hagan, D. M.; Clement-Jones, M.; Ball, S. G.; Strachan, T.; Salas-Cortés, L.; McElreavey, K.; Lindsay, S.; Robson, S.; Bullen, P.; Ostrer, Harry; Wilson, D. I.

In: Mechanisms of Development, Vol. 91, No. 1-2, 01.03.2000, p. 403-407.

Research output: Contribution to journalArticle

Hanley, NA, Hagan, DM, Clement-Jones, M, Ball, SG, Strachan, T, Salas-Cortés, L, McElreavey, K, Lindsay, S, Robson, S, Bullen, P, Ostrer, H & Wilson, DI 2000, 'SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development', Mechanisms of Development, vol. 91, no. 1-2, pp. 403-407. https://doi.org/10.1016/S0925-4773(99)00307-X
Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, Salas-Cortés L et al. SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mechanisms of Development. 2000 Mar 1;91(1-2):403-407. https://doi.org/10.1016/S0925-4773(99)00307-X
Hanley, N. A. ; Hagan, D. M. ; Clement-Jones, M. ; Ball, S. G. ; Strachan, T. ; Salas-Cortés, L. ; McElreavey, K. ; Lindsay, S. ; Robson, S. ; Bullen, P. ; Ostrer, Harry ; Wilson, D. I. / SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. In: Mechanisms of Development. 2000 ; Vol. 91, No. 1-2. pp. 403-407.
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