The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene

Mol Cell Endocrinol. 1991 Jan;75(1):37-47. doi: 10.1016/0303-7207(91)90243-l.

Abstract

Human genital skin fibroblasts (GSF) make a relatively abundant 56/58 kDa protein that binds androgens. The protein shares many properties with the approximately 100 kDa androgen receptor that is encoded by a locus in the q12 region of the X chromosome. It does not appear to be androgen-induced, yet is absent in GSF of most patients with complete androgen insensitivity (CAI). A precursor-product relation with the androgen receptor (AR) protein has been largely excluded; that it may be an unorthodox product of the AR gene has not. The 56/58 kDa protein is made by the GSF of a mentally retarded subject who has CAI because of a complete deletion of the coding portion of the AR gene. Hence, the strong constitutional and statistical correlations that have been demonstrated between the two proteins cannot arise because they share the same gene. The subject's genomic DNA hybridizes normally with 11 single-copy probes from Xq11-Xq13. Therefore, we cannot attribute her mental retardation to a contiguous gene syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Androgen-Binding Protein / analysis*
  • Androgen-Binding Protein / genetics
  • Androgen-Insensitivity Syndrome / genetics*
  • Androgen-Insensitivity Syndrome / metabolism
  • Androgen-Insensitivity Syndrome / pathology
  • Base Sequence
  • Cells, Cultured
  • Chromosome Deletion
  • Cytosol / chemistry
  • Fibroblasts / chemistry*
  • Genitalia, Male / cytology*
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Molecular Sequence Data
  • Receptors, Androgen / deficiency*
  • Receptors, Androgen / genetics
  • X Chromosome

Substances

  • Androgen-Binding Protein
  • Receptors, Androgen