Tohoku J. Exp. Med., 1999, 187 (3)

Point Mutations in the Steroid-Binding Domain of the Androgen Receptor Gene of Five Japanese Patients with Androgen Insensitivity Syndrome

NOBUO YAEGASHI, SHIGEKI UEHARA, MASATO SENOO, JUNKO SATO,1 JUNKO FUJIWARA,1 TADAO FUNATO,1 TAKESHI SASAKI and AKIRA YAJIMA

Department of Obstetrics and Gynecology and 1Department of Laboratory Medicine, Tohoku University School of Medicine, Sendai 980-8574

  • 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.
    Key words--- androgen receptor; nucleotide substitution; nonsense mutation; missense mutation
    © 1999 Tohoku University Medical Press

    Tohoku J. Exp. Med., 1999, 187, 263-272
    Address for reprints: Shigeki Uehara, M.D., Department of Obstetrics and Gynecology, Tohoku University School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai 980-8574, Japan.
    e-mail: uehara@ob-gy.med.tohoku.ac.jp

    Back to CONTENTS.