PMID: 9526703Apr 4, 1998Paper

Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology
S KomoriK Koyama

Abstract

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.

References

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Citations

Feb 3, 2006·Yi chuan xue bao = Acta genetica Sinica·Xu WangJing-Yu Liu
Jun 4, 1998·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·H TanakaK Koyama
Apr 4, 2006·Advances in Health Sciences Education : Theory and Practice·Lori L BakkenMin-Fen Wang
Dec 22, 1999·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·S KomoriK Koyama

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