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Gerald Raverot, Herve Lejeune, Tom Kotlar, Michel Pugeat, J. Larry Jameson, X-Linked Sex-Determining Region Y Box 3 (SOX3) Gene Mutations Are Uncommon in Men with Idiopathic Oligoazoospermic Infertility, The Journal of Clinical Endocrinology & Metabolism, Volume 89, Issue 8, 1 August 2004, Pages 4146–4148, https://doi.org/10.1210/jc.2004-0191
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The X-linked sex-determining region Y box 3 (SOX3) gene is expressed in the developing gonads and brain. Sox3-null mice developed according to genetic sex, but the hemizygous null males were hypogonadal, with extensive Sertoli cell vacuo-lization, loss of germ cells, and reduced sperm count. We hypothesized that SOX3 mutations might occur in a subset of infertility patients. Genomic DNA samples from 56 infertile men with idiopathic oligo-azoospermia were screened for SOX3 mutations. Three nucleotide substitutions (609 T→C, 732 A→C, and 978 G→A) were identified, none of which altered the amino acid sequence, suggesting that they are polymorphic variants. The 609 T→C substitution was in the HMG box, and the two other substitutions were identified within the polyalanine repeat regions. Three patients had 609 T→C, 2 patients had 609 T→C and 732 A→C, and one had 978 G→A. These data indicate that mutations in the SOX3 gene are not a common cause of male infertility.
