X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility.
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.
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, USA.
Gerald
G
Raverot
Herve
H
Lejeune
Tom
T
Kotlar
Michel
M
Pugeat
J Larry
JL
Jameson
D000225:Adenine; D041321:Chromosomes, Human, X; D003596:Cytosine; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D008040:Genetic Linkage; D005820:Genetic Testing; D006147:Guanine; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000209:etiology* / Q000235:genetics*; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000150:complications*; D055748:SOXB1 Transcription Factors; D013941:Thymine; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors; C527786:Sox3 protein, mouse; D014157:Transcription Factors; D006147:Guanine; D003596:Cytosine; D000225:Adenine; D013941:Thymine