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

Giwercman, Yvonne Lundberg LU ; Nikoshkov, Andrej ; Lindsten, Kristina ; Byström, Birgitta ; Pousette, Ake ; Chibalin, Alexander V. ; Arvidsson, Sivonne ; Tiulpakov, Anatoly ; Semitcheva, Tatiana V. and Peterkova, Valentina , et al. (1998) In Human Genetics 103(4). p.529-531
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 (R830G) 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.

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publishing date
type
Contribution to journal
publication status
published
in
Human Genetics
volume
103
issue
4
pages
529 - 531
publisher
Springer
external identifiers
  • scopus:0031723524
  • pmid:9856504
ISSN
0340-6717
DOI
10.1007/s004390050864
language
English
LU publication?
no
id
b369742c-5fc5-4582-abdc-b335db82d374
date added to LUP
2019-05-23 09:49:57
date last changed
2024-01-01 07:28:25
@article{b369742c-5fc5-4582-abdc-b335db82d374,
  abstract     = {{<p>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 (R830G) 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.</p>}},
  author       = {{Giwercman, Yvonne Lundberg and Nikoshkov, Andrej and Lindsten, Kristina and Byström, Birgitta and Pousette, Ake and Chibalin, Alexander V. and Arvidsson, Sivonne and Tiulpakov, Anatoly and Semitcheva, Tatiana V. and Peterkova, Valentina and Hagenfeldt, Kerstin and Ritzén, E. Martin and Wedell, Anna}},
  issn         = {{0340-6717}},
  language     = {{eng}},
  month        = {{12}},
  number       = {{4}},
  pages        = {{529--531}},
  publisher    = {{Springer}},
  series       = {{Human Genetics}},
  title        = {{Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome}},
  url          = {{http://dx.doi.org/10.1007/s004390050864}},
  doi          = {{10.1007/s004390050864}},
  volume       = {{103}},
  year         = {{1998}},
}