Sox3 Is Required for Gonadal Function, but Not Sex Determination, in Males and Females

Jeffrey Weiss, Joshua J. Meeks, Lisa Hurley, Gerald Raverot, Andrea Frassetto, J. Larry Jameson*

*Corresponding author for this work

Research output: Contribution to journalArticle

137 Scopus citations

Abstract

Sox3 is expressed in developing gonads and in the brain. Evolutionary evidence suggests that the X-chromosomal Sox3 gene may be the ancestral precursor of Sry, a sex-determining gene, and Sox3 has been proposed to play a role in sex determination. However, patients with mutations in SOX3 exhibit normal gonadal determination but are mentally retarded and have short stature secondary to growth hormone (GH) deficiency. We used Cre-LoxP targeted mutagenesis to delete Sox3 from mice. Null mice of both sexes had no overt behavioral deficits and exhibited normal GH gene expression. Low body weight was observed for some mice; overgrowth and misalignment of the front teeth was observed consistently. Female Sox3 null mice (-/-) developed ovaries but had excess follicular atresia, ovulation of defective oocytes, and severely reduced fertility. Pituitary (luteinizing hormone and follicle-stimulating hormone) and uterine functions were normal in females. Hemizygous male null mice (-/Y) developed testes but were hypogonadal. Testis weight was reduced by 42%, and there was extensive Sertoli cell vacuolization, loss of germ cells, reduced sperm counts, and disruption of the seminiferous tubules. We conclude that Sox3 is not required for gonadal determination but is important for normal oocyte development and male testis differentiation and gametogenesis.

Original languageEnglish (US)
Pages (from-to)8084-8091
Number of pages8
JournalMolecular and cellular biology
Volume23
Issue number22
DOIs
StatePublished - Nov 1 2003

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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