+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Frame-shift mutation in hormone binding domain of human androgen receptor gene causes complete androgen insensitivity



Frame-shift mutation in hormone binding domain of human androgen receptor gene causes complete androgen insensitivity



Molecules and Cells 8(6): 741-745



Mutation of the human androgen receptor gene impairs normal sexual differentiation and development in karyotypic males, resulting in a spectrum of external genital phenotypes ranging from complete female to nearly complete male. The androgen insensitivity syndrome (AIS) is an X-linked disorder in which genetic males fail to undergo normal fetal masculinization or pubertal virilization. PCR amplification of AR exons followed by SSCP analysis was performed with the genomic DNA of a patient having complete AIS. Mutation was observed at the exon E, where a single nucleotide deletion of T at the nucleotide 3286 was observed by cyclic sequencing. A single base deletion in Exon E in the hormone binding domain causes a frame-shift mutation, which leads to changes in the open reading frame, and causes the early termination of AR synthesis. The structural change of the hormone binding domain and AR might cause an insensitivity to the androgen thus leading to AIS.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 046120962

Download citation: RISBibTeXText

PMID: 9895128


Related references

A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mullerian structures, and germ cell tumors in dysgenetic gonads. Fertility & Sterility 72(1): 170-173, 1999

A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicular-feminized mouse. Nucleic Acids Research 19(9): 2373-2378, 1991

Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor. Human Molecular Genetics 3(7): 1169-1170, 1994

Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a CysPhe substitution in the second zinc finger of the androgen receptor. Human Molecular Genetics 3(7): 1169-1170, 1994

A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. European Journal of Obstetrics Gynecology and Reproductive Biology 148(1): 53-55, 2010

A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance. Molecular Endocrinology 7(7): 861-869, 1993

Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. Asian Journal of Andrology 10(4): 687-691, 2008

A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome. Fertility and Sterility 60(5): 814-819, 1993

Premature termination mutation (772Glu-->stop) in the hormone-binding domain of the androgen receptor in a patient with the receptor-negative form of complete androgen insensitivity syndrome. Endocrine Journal 42(5): 643-648, 1995

Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). Human Genetics 90(3): 311-312, 1992

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene. Sexual Development 2018:, 2018

A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. Gynecological Endocrinology 13(5): 327-332, 1999

Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization. Journal of Clinical Endocrinology and Metabolism 87(9): 4378-4382, 2002

A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. Journal of Obstetrics and Gynaecology 32(7): 707-708, 2012

A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. Fertility and Sterility 95(2): 804.E19, 2011