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These findings are significant for genetic studies of sexual development and its anomalies, as they reveal, possibly for the first time, a proteasome-based mechanism that obstructs normal gonadogenesis. Understanding the function of the SRY gene is pivotal to these discussions. Close mobile search navigation Article Navigation. Related Publications in Biology of Reproduction. First, they explored the consequences of the mutation by focusing on the protein region in which SRY abnormalities primarily occur: the high-mobility-group HMG box. Second, they evaluated the cell biological functions of the mutant SRY compared to wild type in platforms of cultured mammalian cells rat and human cell lines. While she exhibited certain symptoms of this mutation in the form of somatic XY sex reversal, primary amenorrhea, and gonadoblastoma , her uncle and father did not and maintained regular fertility. The mechanism of human sex determination has attracted much public and scientific interest in light of ongoing discussions regarding gender and sex in both these spheres. Related articles in Web of Science Google Scholar.

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