scholarly journals Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development

2016 ◽  
Vol 10 (1) ◽  
pp. 37-44 ◽  
Author(s):  
Colin Bolzon ◽  
Carolynne J. Joonè ◽  
Martin L. Schulman ◽  
Cindy K. Harper ◽  
Daniel A.F. Villagómez ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Ligand Binding ◽  
Missense Mutation ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Binding Domain ◽  
Ligand Binding Domain ◽  
Disorder Of Sex Development ◽  
Sex Development

scholarly journals Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.

1992 ◽  
Vol 90 (5) ◽  
pp. 2097-2101 ◽  
Author(s):  
M J McPhaul ◽  
M Marcelli ◽  
S Zoppi ◽  
C M Wilson ◽  
J E Griffin ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Ligand Binding ◽  
Gene Cluster ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Binding Domain ◽  
Ligand Binding Domain

scholarly journals Preserved Male Fertility Despite Decreased Androgen Sensitivity Caused by a Mutation in the Ligand-Binding Domain of the Androgen Receptor Gene1

2000 ◽  
Vol 85 (6) ◽  
pp. 2253-2259 ◽  
Author(s):  
Aleksander Giwercman ◽  
Thomas Kledal ◽  
Marianne Schwartz ◽  
Yvonne Lundberg Giwercman ◽  
Henrik Leffers ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Ligand Binding ◽  
Male Fertility ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Binding Domain ◽  
Ligand Binding Domain ◽  
Binding Studies ◽  
Mutant Receptor ◽  
Activation Assay

Mutations in the androgen receptor gene are considered as incompatible with preservation of fertility and have been suggested as a cause of male infertility. Two adult brothers, referred because of gynecomastia and hormonal levels in serum indicating androgen insensitivity (high sex hormone-binding globulin, and LH levels, despite extremely high testosterone concentration), turned out to be relatives to a third young man, referred independently of the two others and exhibiting identical clinical and hormonal stigmata. In all three men, we found a C→A substitution at position 2470 (exon 7) in the androgen receptor gene, leading to a Gln824Lys mutation in the ligand-binding domain of the receptor. Exploring the family history revealed that their grandfathers, on their mothers’ side, were brothers; and the Gln824Lys mutation was also found in the one of them who was still alive. Binding studies with the mutant receptor in transfected COS-7 cells, with mibolerone as ligand, exhibited equal Kd (0.7 vs. 1.0 nmol/L), IC50 (0.8 vs. 1.1 nmol/L), and maximum binding (7.1 vs. 8.9 fmol/106 cells), as compared with the wild-type (WT) receptor. In a chloramphenicol acetyl transferase trans-activation assay, the activity of the mutant receptor was identical to that of the WT, when the synthetic androgen R1881 was used as a ligand; but with dihydrotestosterone, in concentrations up to 10 nmol/L, the activity of Gln824Lys mutated receptor was 10–62% of the WT variant. Thus, Gln824Lys mutation was found, both in vivo and in vitro, to cause slight impairment of receptor function but was compatible with preservation of male fertility. The patients inherited the mutation from their grandfathers through their mothers, and one of the young men possessing the mutation has fathered a daughter.

Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene

2008 ◽  
Vol 90 (5) ◽  
pp. 2008.e1-2008.e4 ◽  
Author(s):  
Angeliki Galani ◽  
Christalena Sofocleous ◽  
Feneli Karahaliou ◽  
Asteroula Papathanasiou ◽  
Sofia Kitsiou-Tzeli ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Ligand Binding ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Binding Domain ◽  
Ligand Binding Domain ◽  
Novel Mutations
Sign in / Sign up

Export Citation Format

Share Document