Skip to main content
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1981 Oct;78(10):6339–6343. doi: 10.1073/pnas.78.10.6339

Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse.

B R Migeon, T R Brown, J Axelman, C J Migeon
PMCID: PMC349034  PMID: 6947233

Abstract

We have established a cell line from mouse kidney cells expressing the tfm mutation and showed that these cells lack androgen binding activity. A subclone of these simian virus 40 (SV40)-transformed cells (6TGR-SV-tfm) selected in 6-thioguanine and lacking hypoxanthine phosphoribosyltransferase was used to produce a series of mouse--human hybrids containing the normal human X chromosome or various X autosome-translocation chromosomes (expressing only segments of the human X chromosome). When the androgen receptor locus (AR) was present in the hybrid, the number of receptor sites and kinetics of binding were similar to that in the human parental cells. Analysis of hybrids with partial human X chromosomes by using assays for X chromosome-linked enzymes and for the androgen receptor protein indicate that the AR locus on the human X chromosome is near the centromere between Xq13 and Xp11 and is proximal to the locus for phosphoglycerate kinase. Hybrids derived from 6TGR-SV-tfm mouse cells and human labial fibroblasts from an XY individual with the ar- form of androgen insensitivity have no binding activity. The lack of complementation indicates that the X chromosome-linked mutations in mouse and man affect homologous loci and supports the evolutionary conservation of X chromosomal loci in mammals; however, the position of the locus on the human X chromosome indicates that intrachromosomal rearrangement has occurred.

Full text

PDF
6339

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Amrhein J. A., Meyer W. J., 3rd, Jones H. W., Jr, Migeon C. J. Androgen insensitivity in man: evidence for genetic heterogeneity. Proc Natl Acad Sci U S A. 1976 Mar;73(3):891–894. doi: 10.1073/pnas.73.3.891. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Attardi B., Ono S. Cytosol androgen receptor from kidney of normal and testicular feminized (Tfm) mice. Cell. 1974 Aug;2(4):205–212. doi: 10.1016/0092-8674(74)90012-9. [DOI] [PubMed] [Google Scholar]
  3. BURTON K. A study of the conditions and mechanism of the diphenylamine reaction for the colorimetric estimation of deoxyribonucleic acid. Biochem J. 1956 Feb;62(2):315–323. doi: 10.1042/bj0620315. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Brown T. R., Migeon C. J. Cultured human skin fibroblasts: a model for the study of androgen action. Mol Cell Biochem. 1981 Apr 13;36(1):3–22. doi: 10.1007/BF02354827. [DOI] [PubMed] [Google Scholar]
  5. Buckton K. E., Jacobs P. A., Rae L. A., Newton M. S., Sanger R. An inherited X-autosome translocation in man. Ann Hum Genet. 1971 Oct;35(2):171–178. doi: 10.1111/j.1469-1809.1956.tb01390.x. [DOI] [PubMed] [Google Scholar]
  6. Corsaro C. M., Migeon B. R. Effect of intercellular communication on the selection of intraspecific human hybrids in HAT and ouabain. Somatic Cell Genet. 1978 Sep;4(5):541–551. doi: 10.1007/BF01542925. [DOI] [PubMed] [Google Scholar]
  7. Eicher E. M., Nesbitt M. N., Francke U. Cytological identification of the chromosomes involved in Searle's translocation and the location of the centromere in the X chromosome of the mouse. Genetics. 1972 Aug;71(4):643–648. doi: 10.1093/genetics/71.4.643. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Francke U., Taggart R. T. Comparative gene mapping: order of loci on the X chromosome is different in mice and humans. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3595–3599. doi: 10.1073/pnas.77.6.3595. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Friend K. K., Chen S., Ruddle F. H. Differential staining of interspecific chromosomes in somatic cell hybrids by alkaline Giemsa stain. Somatic Cell Genet. 1976 Mar;2(2):183–188. doi: 10.1007/BF01542631. [DOI] [PubMed] [Google Scholar]
  10. Jacobs P. A., Hunt P. A., Mayer M., Bart R. D. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet. 1981 Jul;33(4):513–518. [PMC free article] [PubMed] [Google Scholar]
  11. Keenan B. S., Meyer W. J., 3rd, Hadjian A. J., Jones H. W., Migeon C. J. Syndrome of androgen insensitivity in man: absence of 5 alpha-dihydrotestosterone binding protein in skin fibroblasts. J Clin Endocrinol Metab. 1974 Jun;38(6):1143–1146. doi: 10.1210/jcem-38-6-1143. [DOI] [PubMed] [Google Scholar]
  12. Lyon M. F., Hawkes S. G. X-linked gene for testicular feminization in the mouse. Nature. 1970 Sep 19;227(5264):1217–1219. doi: 10.1038/2271217a0. [DOI] [PubMed] [Google Scholar]
  13. Meera Khan P. Enzyme electrophoresis on cellulose acetate gel: zymogram patterns in mgh-mouse and man--Chinese hamster somatic cell hybrids. Arch Biochem Biophys. 1971 Aug;145(2):470–483. doi: 10.1016/s0003-9861(71)80007-3. [DOI] [PubMed] [Google Scholar]
  14. Meyer W. J., 3rd, Migeon B. R., Migeon C. J. Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc Natl Acad Sci U S A. 1975 Apr;72(4):1469–1472. doi: 10.1073/pnas.72.4.1469. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Ono S. Ancient linkage groups and frozen accidents. Nature. 1973 Aug 3;244(5414):259–262. doi: 10.1038/244259a0. [DOI] [PubMed] [Google Scholar]
  16. Pathak S., Stock A. D. The X chromosomes of mammals: karylogical homology as revealed by banding techniques. Genetics. 1974 Oct;78(2):703–714. doi: 10.1093/genetics/78.2.703. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Rodbard D., Rayford P. L., Cooper J. A., Ross G. T. Statistical quality control of radioimmunoassays. J Clin Endocrinol Metab. 1968 Oct;28(10):1412–1418. doi: 10.1210/jcem-28-10-1412. [DOI] [PubMed] [Google Scholar]
  18. Romeo G., Migeon B. R. Stability of X chromosomal inactivation in human somatic cells transformed by SV-40. Humangenetik. 1975 Sep 10;29(2):165–170. doi: 10.1007/BF00430356. [DOI] [PubMed] [Google Scholar]
  19. Scott A. F., Phillips J. A., 3rd, Migeon B. R. DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11. Proc Natl Acad Sci U S A. 1979 Sep;76(9):4563–4565. doi: 10.1073/pnas.76.9.4563. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES