In vitro functional characterization of androgen receptor gene mutations at arginine p.856 of the ligand-binding-domain associated with androgen insensitivity syndrome.
Androgen insensitivity syndrome
Androgen receptor (AR)
Disorders of sexual development
XY DSD
Journal
The Journal of steroid biochemistry and molecular biology
ISSN: 1879-1220
Titre abrégé: J Steroid Biochem Mol Biol
Pays: England
ID NLM: 9015483
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
received:
03
11
2020
revised:
12
01
2021
accepted:
29
01
2021
pubmed:
7
2
2021
medline:
8
5
2021
entrez:
6
2
2021
Statut:
ppublish
Résumé
Androgens are critical for male sex differentiation. Their actions are mediated by the androgen receptor (AR). Mutations disrupting AR function result in the androgen insensitivity syndrome (AIS). In this study, we identified in a patient with complete AIS, a novel AR mutation p.R856L. To investigate the functional properties of p.R856L, we performed functional studies. In comparison, we have characterized two already described mutations: p.R856H and p.R856C. We used a model composed of two different promoters fused to a reporter gene, two cell lines, and showed that all mutations were able to transactivate the (ARE)
Identifiants
pubmed: 33548461
pii: S0960-0760(21)00027-3
doi: 10.1016/j.jsbmb.2021.105834
pii:
doi:
Substances chimiques
AR protein, human
0
Androgens
0
Ligands
0
Receptors, Androgen
0
Arginine
94ZLA3W45F
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
105834Informations de copyright
Copyright © 2021 Elsevier Ltd. All rights reserved.