The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicularfeminized mouse
Open accessAbstract
The testicular feminized (Tfm) mouse lacks completely androgen responsiveness; and therefore, is unique for studying the role of androgenic steroids in different biological processes. In order to understand the molecular basis of this mutation, 2.8 kilobases 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 recombinant 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 transcriptional 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.
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Citations
Cites
X-linked Gene for Testicular Feminization in the Mouse
LYON, M. F., & HAWKES, S. G. (1970) · Nature · doi:10.1038/2271217a0 · Cited by 555
Yarbrough, W. G., Quarmby, V. E., Simental, J. A., Joseph, D. R., Sar, M., Lubahn, D. B., Olsen, K. L., French, F. S., & Wilson, E. M. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)38972-0 · Cited by 199
Cited by
Androgen Receptor Defects: Historical, Clinical, and Molecular Perspectives*
QUIGLEY, C. A., BELLIS, A. D., MARSCHKE, K. B., EL-AWADY, M. K., WILSON, E. M., & FRENCH, F. S. (1995) · Endocrine Reviews · doi:10.1210/edrv-16-3-271 · Cited by 1,447
Chamberlain, N. L., Driver, E. D., & Miesfeld, R. L. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.15.3181 · Cited by 1,156
Yeh, S., Tsai, M.-Y., Xu, Q., Mu, X.-M., Lardy, H., Huang, K.-E., Lin, H., Yeh, S.-D., Altuwaijri, S., Zhou, X., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.212474399 · Cited by 668
Hormonal, cellular, and molecular control of prostatic development
Marker, P. C., Donjacour, A. A., Dahiya, R., & Cunha, G. R. (2003) · Developmental Biology · doi:10.1016/s0012-1606(02)00031-3 · Cited by 469
TFOS DEWS II Sex, Gender, and Hormones Report
Sullivan, D. A., Rocha, E. M., Aragona, P., Clayton, J. A., Ding, J., Golebiowski, B., Hampel, U., McDermott, A. M., Schaumberg, D. A., Srinivasan, S., et al. (2017) · The Ocular Surface · doi:10.1016/j.jtos.2017.04.001 · Cited by 434
Metadata
- Authors
- He, W. W., Kumar, M. V., & Tindall, D. J.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 1991
- Volume
- 19
- Issue
- 9
- Pages
- 2373-2378
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W1997083861
- Cited by
- 164
- References
- 2
- FWCI
- 2.79
- Type
- journal article
- Language
- en
- Open access
- bronze
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- He, W. W., Kumar, M. V., & Tindall, D. J. (1991). A frame-shift mutation in the androgen receptor gene causes complete androgen insensitivity in the testicularfeminized mouse. Nucleic Acids Research. https://doi.org/10.1093/nar/19.9.2373
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