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1998 Fiscal Year Final Research Report Summary

Characterization of the androgen receptor (AR) in sexual differntiation to androgen insensitivity syndrome (AIS).

Research Project

Project/Area Number 09671654
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Urology
Research InstitutionHyogo College of Medicine

Principal Investigator

SHIMA Hiroki  the Medical Department, Hyogo College of Medicine Professor, 医学部, 教授 (90104257)

Co-Investigator(Kenkyū-buntansha) YOSHIOKA Masaru  the Medical Department, Hyogo College of Medicine Assistant, 医学部, 助手 (90248146)
MIYAMOTO Iwai  the Medical Department, Hyogo College of Medicine Assistant, 医学部, 助手 (80248145)
TAMAOKI Tomoko (HASHIMOTO Tomoko)  the Medical Department, Hyogo College of Medicine associate Professor, 医学部, 助教授 (10172868)
FURUYAMA Jun-ichi  the Medical Department, Hyogo College of Medicine Professor, 医学部, 教授 (30068431)
Project Period (FY) 1996 – 1998
Keywordsandrogen receptor / androgen insensitivity syndrome / gene / mutation
Research Abstract

The molecular basis of AIS was ultimately established by identification of mutations in the gene encoding the AR in individuals with various forms of this syndrome. We report point mutations in the AR gene of testicular feminization syndrome, and Reifenstein syndrome. These point mutations in the hormone binding domain of the AR were responsible for their thermolability in the radioreceptor assay using fibloblast cells derived from genitalia, which were confirmed through transactivation luciferase assay after transfection of the target genes into COS7 cells. The one mutant expression plasmid significantly decreased the transactivation activity in comparison with that of a wild type (58.5%, P<O.05), and two mutants expression plasmid (M807V, and R840H) significantly decreased the reporter gene activity in comparison with that of a wild type (64.5%, P<O.05). Transactivation assay with one of two mutations didn't show any difference of the reporter gene activity from that of a wild type. Although the replacement of one of two hydrophobic aminoacids for hydrophillic amino acid transfected into the one mutant expression plasmid significantly decreased the reporter gene activity in comparison with that of a wild type (34.8%, P<O.05). We suggest that the point mutation generating the replacement of hydrophobic amino acid for hydrophilic one could be one of the major causes for an ambiguous phenotype of genitalia in patients with ALS.We are undergoing differential display assay of the AR to investigate second message of the target gene.

  • Research Products

    (2 results)

All Other

All Publications (2 results)

  • [Publications] Shuyan Yeh, Hiroshi Miyamoto, Hiroki Shima, et al.: "From estrogen to androgen receptor. A new Pathway for sex hormones in prostate." Proc.Natl.Acad.Sci.USA.95(10). 5527-5532 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 倉岡哲郎, 島博基: "Reifenstein症候群(Partial androgen insensitivity syndrome)におけるアンドロゲンレセプター遺伝子のin vitro発現系を用いた基礎的検討" 兵庫医科大学医学会雑誌. 22(3). 267-279 (1997)

    • Description
      「研究成果報告書概要(和文)」より

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Published: 1999-12-08   Modified: 2021-10-13  

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