Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome |
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| Authors: | Yvonne Lundberg Giwercman Andrej Nikoshkov Kristina Lindsten Birgitta Byström Å Pousette Alexander V Chibalin Sivonne Arvidsson Anatoly Tiulpakov Tatiana V Semitcheva Valentina Peterkova Kerstin Hagenfeldt E Martin Ritzén A Wedell |
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| Institution: | (1) Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden e-mail: Anna.Wedell@cmm.ki.se, Tel.: +46 8 51776535, Fax: +46 8 51773620, SE;(2) Department of Woman and Child Health, Karolinska Hospital, S-171 76 Stockholm, Sweden, SE;(3) Pediatric Unit, Endocrinological Research Center, 117036 Moscow, Russia, RU |
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| Abstract: | Five mutations in the ligand-binding domain of the androgen receptor gene were identified in patients with complete (A765T,
C784Y, R831X and M895T) or partial (R840G) androgen insensitivity. A765T and R831X have been reported previously whereas the
other three mutations are novel. Receptors carrying these mutations were transiently expressed in COS-1 cells, and androgen
binding and capacity to transactivate an androgen-responsive reporter gene were assayed. C784Y led to abolished androgen
binding and transactivating capacity, R840G and M895T showed reduced specific binding and partial transactivation. The in
vitro functions of the R840G and M895T mutants were improved with supraphysiological concentrations of steroid.
Received: 10 June 1998 / Accepted: 10 September 1998 |
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