Human Androgen Insensitivity Syndrome

摘要: The clinical and pathophysiologic features of AIS provide a human model for understanding the role androgen its receptor in induction maintenance male sex differentiation function. Upon inspection, one is immediately impressed by diverse nature mutations involved spectrum heterogeneous distribution these throughout coding region AR gene. Because large number array naturally occurring their associated phenotypes, there great potential structure-function relationships from vitro expression mutant receptors various cell lines. Future studies will be directed toward coordinate functional domains AR, binding to specific response elements, dimerization, phosphorylation, interaction with accessory proteins that direct cell- temporal-specific regulation gene transactivation.