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X-Linked Sex-Determining Region Y Box 3 (SOX3) Gene Mutations Are Uncommon in Men with Idiopathic Oligoazoospermic Infertility

Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Feinberg School of Medicine (G.R., T.K., J.L.J.), Chicago, Illinois 60611; Departement de Medecine de la Reproduction, Hospices Civils de Lyon, Hopital E. Herriot and Institut National de la Santé et de la Recherche Médicale-Institut National de la Recherche Agronomique, Unité 418, Hopital Debrousse (H.L.), 69007 Lyon, France; and Fédération d’Endocrinologie du Pôle Est, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, and Institut National de la Santé et de la Recherche Médicale, Hopital Debrousse (M.P.), 69394 Lyon, France

Address all correspondence and requests for reprints to: Dr. J. Larry Jameson, Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine, Galter Pavilion, Suite 3-150, 251 East Huron Street, Chicago, Illinois 60611-2908. E-mail: ljameson{at}northwestern.edu.

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 TC, 732 AC, and 978 GA) were identified, none of which altered the amino acid sequence, suggesting that they are polymorphic variants. The 609 TC substitution was in the HMG box, and the two other substitutions were identified within the polyalanine repeat regions. Three patients had 609 TC, 2 patients had 609 TC and 732 AC, and one had 978 GA. These data indicate that mutations in the SOX3 gene are not a common cause of male infertility.

This work was supported in part by NIH Grant HD-044801 and by a grant from the French Society of Endocrinology and Novo-Nordisk (to G.R.).

Abbreviations: HMG, High mobility group; SOX3, X-linked sex-determining region Y box 3; Sry, sex-determining region Y.

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