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Researchers find genetic region responsible for testicle development

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A genetic region may control testicle development in the fetus, according to data presented at the 50th European Society for Pediatric Endocrinology meeting.

“We have known for a while that for testes to form in the embryo, a key gene called SOX9 needs to be activated. However, until now, the mechanism by which this activation occurs has been unclear,” Jacqueline Hewitt, PhD, of the Royal Children’s Hospital Melbourne, Australia, said in a press release.

Using whole-genome microarray, fluorescence in situ hybridization and bioinformatic analyses, the researchers examined genomes of 30 children with disorders of sex development (DSD). Nine patients had 46,XX testicular DSD and 21 patients had 46,XY gonadal dysgenesis.

According to the results, in two of the patients with 46,XX testicular DSD, the researchers found a small region outside of the SOX9 gene that was duplicated. Analysis of this region indicated that it contained an SRY/SOX binding motif, meaning the region may be a regulator of SOX9 gene activity and, thus, involved in testicle formation. The tandem arrangement of the duplications may signal a dosage-related or structural effect on the SOX9 gene. The position of these duplications is associated with previous research in patients with familial 46,XX testicular DSD, which also showed that this chromosome region may be involved in testes development, according to information in the press release.

“Our research indicates that there is a gene regulatory region on chromosome 17, upstream of the SOX9 gene, which is involved in the initiation of testicle development in the fetus. This regulatory region is sited a distance away from the SOX9 gene itself, but functions to switch the gene on, allowing the formation of testicles,” Hewitt said. “This illustrates the fundamental importance of not just the actual genes, but also of gene regulation systems in human development.”

The researchers said future studies are needed to determine whether testis development can be initiated by switching on this region in growing cells and in developmental models.

“We are only now beginning to understand the mechanisms of gene regulation, which are essential for the development of a complex organization such as a human child. This research significantly advances our understanding of how testes develop in the human body,” Hewitt said.

For more information:

• Hewitt J. Long-range regulatory elements of SOX9 in 46,XX testicular DSD. Presented at: the the 50th Annual Meeting of the European Society for Pediatric Endocrinology; Sept. 25-28, 2011; Glasgow, U.K.

Disclosure: The researchers report no relevant financial disclosures.

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