Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome

被引：0

作者：

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

机构：

[1] Department of Molecular Medicine,

[2] Karolinska Hospital,undefined

[3] S-171 76 Stockholm,undefined

[4] Sweden e-mail: Anna.Wedell@cmm.ki.se,undefined

[5] Tel.: +46 8 51776535,undefined

[6] Fax: +46 8 51773620,undefined

[7] Department of Woman and Child Health,undefined

[8] Karolinska Hospital,undefined

[9] S-171 76 Stockholm,undefined

[10] Sweden,undefined

[11] Pediatric Unit,undefined

[12] Endocrinological Research Center,undefined

[13] 117036 Moscow,undefined

[14] Russia,undefined

来源：

Human Genetics | 1998年 / 103卷

关键词：

Steroid; Androgen; Androgen Receptor; Reporter Gene; Receptor Gene;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：529 / 431

页数：-98