Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor.

@article{Beitel1994CompleteAI,
  title={Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor.},
  author={Lenore K. Beitel and Louise Prior and D. Marie Vasiliou and Bruce Gottlieb and Morris Kaufman and Rose Lumbroso and Carlos P Alvarado and Barbara McGillivray and Mark Trifiro and Leonard Pinsky},
  journal={Human molecular genetics},
  year={1994},
  volume={3 1},
  pages={21-7}
}
We describe different single-amino acid aberrations in the DNA-binding domain (DBD) of the human androgen receptor (hAR) in three families with complete androgen insensitivity. No additional alteration was found in the translated portion of each mutant gene. In one family, an in-frame 3 nt deletion removes codon 581-(or 582) and, thereby, one of two phenylalanines that invariably occupy adjacent positions in the N-terminal alpha-helical region of the DBD in the steroid/thyroid/vitamin D… CONTINUE READING
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