A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicularfeminized mouse (original) (raw)

Journal Article

,

1

Departments of Urology/Biochemistry and Molecular Biology Mayo Clinic

Rochester, MN 55905

2

Department of Cell Biology Baylor College of Medicine

Houston, TX 77030, USA

* To whom correspondence should be addressed at Laboratory for Urology Research, Mayo Clinic, Rochester, MN 55905, USA

Search for other works by this author on:

,

1

Departments of Urology/Biochemistry and Molecular Biology Mayo Clinic

Rochester, MN 55905

Search for other works by this author on:

1

Departments of Urology/Biochemistry and Molecular Biology Mayo Clinic

Rochester, MN 55905

* To whom correspondence should be addressed at Laboratory for Urology Research, Mayo Clinic, Rochester, MN 55905, USA

Search for other works by this author on:

Received:

25 January 1991

• PDF
• Split View
• • Article contents
  • Figures & tables
  • Video
  • Audio
  • Supplementary Data
• Cite

Cite

Wei Wu He, M.Vijay Kumar, Donald J. Tindall, A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicularfeminized mouse, Nucleic Acids Research, Volume 19, Issue 9, 11 May 1991, Pages 2373–2378, https://doi.org/10.1093/nar/19.9.2373
Close

Navbar Search Filter Mobile Enter search term Search

Abstract

The testicular feminized (Tfm) mouse lacks completely androgen responsiveness; and therefore, is unique for studying the role of androgenlc steroids in different biological processes. In order to understand the molecular basis of this mutation, 2.8 kllobases of cDNA encoding the Tfm mouse androgen receptor (AR) were amplified with a polymerase chain reaction (PCR) technique. No large deletion in the coding region of the Tfm mouse AR was detected. However, sequence analysis revealed a single base deletion in the coding region of the Tfm AR mRNA. This mutation, which is located in the amino-terminus domain of the receptor, is predicted to cause a frame-shift In translation resulting in a premature termination of AR synthesis at amino acid 412. In vitro translation studies of the recomblnant wild type and Tfm AR's demonstrated that the Tfm AR cDNA failed to produce a full-length receptor. Furthermore, the Tfm AR was demonstrated to lack transcrlptional activation capability by cotransfection experiments using the Tfm AR with a reporter plasmid of mouse mammary tumor virus long terminal repeat linked to the chloramphenicol acetyltransferase gene. These studies provide evidence of the molecular defect which causes androgen insensitivity in the Tfm mouse.

This content is only available as a PDF.

© Oxford University Press

I agree to the terms and conditions. You must accept the terms and conditions.

Submit a comment

Name

Affiliations

Comment title

Comment

You have entered an invalid code

Thank you for submitting a comment on this article. Your comment will be reviewed and published at the journal's discretion. Please check for further notifications by email.

Citations

Views

Altmetric

Metrics

Total Views 126

37 Pageviews

89 PDF Downloads

Since 2/1/2017

Citations

135 Web of Science

×

Email alerts

Citing articles via

• Latest

• Most Read

• Most Cited

More from Oxford Academic