Komori S, Tanaka H, Sakata K, Tsuji Y, Shima H, Koyama K
Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan.
Gynecol Endocrinol. 1998 Feb;12(1):1-8. doi: 10.3109/09513599809024963.
The androgen receptor gene of two familial cases with complete androgen insensitivity syndrome was analyzed. The shortage of glutamine homopolymeric repeats (13 repeats) in the N-terminal domain of the androgen receptor of the patients was identified by DNA sequence analysis. In vitro transfection experiments with the patients' androgen receptor gene indicated that the expression of the androgen receptor in transfected COS-7 cells was decreased by 10% as compared to that of the wild type androgen receptor gene. The thermal stability of the 5 alpha-dihydrotestosterone-androgen receptor complex was also partially impaired. The capacity of the androgen receptor to activate target gene transcription was partially disturbed in a luciferase assay. The shortened glutamine homopolymeric repeats might therefore be related to the pathogenesis of complete androgen insensitivity syndrome.
对两例完全性雄激素不敏感综合征家族病例的雄激素受体基因进行了分析。通过DNA序列分析确定了患者雄激素受体N端结构域中谷氨酰胺同聚物重复序列短缺（13个重复）。对患者雄激素受体基因进行的体外转染实验表明，与野生型雄激素受体基因相比，转染的COS - 7细胞中雄激素受体的表达降低了10%。5α - 双氢睾酮 - 雄激素受体复合物的热稳定性也部分受损。在荧光素酶测定中，雄激素受体激活靶基因转录的能力受到部分干扰。因此，缩短的谷氨酰胺同聚物重复序列可能与完全性雄激素不敏感综合征的发病机制有关。
