PMID- 10458483
OWN - NLM
STAT- MEDLINE
DCOM- 19990921
LR  - 20211203
IS  - 0040-8727 (Print)
IS  - 0040-8727 (Linking)
VI  - 187
IP  - 3
DP  - 1999 Mar
TI  - Point mutations in the steroid-binding domain of the androgen receptor gene of
      five Japanese patients with androgen insensitivity syndrome.
PG  - 263-72
AB  - We analyzed the androgen receptor (AR) gene in five Japanese patients diagnosed
      with androgen insensitivity syndrome (AIS). All AR genes from the five patients
      had single-nucleotide substitutions, which introduced a premature termination
      codon in three patients (Gln640, Arg752, and Gln640 and Trp751), and a single
      amino acid substitution in two patients (Arg831 to Gln, and Leu812 to Phe). All
      the mutations occurred in the steroid-binding domain, comprising exons D through 
      G. The three patients with the premature termination codon(s) and the one patient
      with Arg831Gln were clinically diagnosed as having complete AIS, while the
      patient with Leu812Phe had a partial form of AIS. Pubic skin fibroblasts from
      four of the five patients did not show detectable androgen binding. These data on
      mutations that have not been reported previously, provide valuable information
      for the further characterization of structural and functional relationships in
      the steroid-binding domain of the AR protein.
FAU - Yaegashi, N
AU  - Yaegashi N
AD  - Department of Obstetrics and Gynecology, Tohoku University School of Medicine,
      Sendai, Japan.
FAU - Uehara, S
AU  - Uehara S
FAU - Senoo, M
AU  - Senoo M
FAU - Sato, J
AU  - Sato J
FAU - Fujiwara, J
AU  - Fujiwara J
FAU - Funato, T
AU  - Funato T
FAU - Sasaki, T
AU  - Sasaki T
FAU - Yajima, A
AU  - Yajima A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Japan
TA  - Tohoku J Exp Med
JT  - The Tohoku journal of experimental medicine
JID - 0417355
RN  - 0 (Receptors, Androgen)
SB  - IM
MH  - Adult
MH  - Androgen-Insensitivity Syndrome/*genetics
MH  - Asians
MH  - Binding Sites/genetics
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - *Point Mutation
MH  - Receptors, Androgen/*genetics
EDAT- 1999/08/24 00:00
MHDA- 1999/08/24 00:01
CRDT- 1999/08/24 00:00
PHST- 1999/08/24 00:00 [pubmed]
PHST- 1999/08/24 00:01 [medline]
PHST- 1999/08/24 00:00 [entrez]
AID - 10.1620/tjem.187.263 [doi]
PST - ppublish
SO  - Tohoku J Exp Med. 1999 Mar;187(3):263-72. doi: 10.1620/tjem.187.263.