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Original Article

A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome

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Pages 327-332 | Published online: 05 Aug 2009

References

  • Imperato-McGinley J, Peterson R E. Male pseudohermaphroditism; the complexities of male phenotypic development. Am J Med 1976; 61: 251–72
  • Evans R M. The steroid and thyroid hormone receptor superfamily. Science 1988; 240: 889–95
  • McPhaul M J, Marcelli M, Zoppi S, et al. Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that cause androgen resistance. J Clin Endocrinol Metab 1993; 76: 17–23
  • Lobaccaro J, Lumbroso S, Poujol N, et al. Molecular genetics of androgen insensitivity syndromes. Cell Mol Biol 1994; 40: 301–8
  • Quigley C A, De Bellis A, Marschke K B, et al. Androgen receptor defects: historical, clinical and molecular perspectives. Endocrine Rev 1995; 16: 271–321
  • Chang C, Kokontis J, Liao S. Molecular cloning of human and rat complementary DNA encoding androgen receptors. Science 1988; 240: 324–6
  • Trapman J, Klaassen P, Kuiper GGJM, et al. Cloning, structure and expression of cDNA encoding the human androgen receptor. Biochem Biophys Res Commun 1988; 153: 241–8
  • Kuiper GGJM, Faber P W, van Rooij HCJ, et al. Structural organization of the human androgen receptor gene. J Mol Endocrinol 1989; 2: R1–R4
  • Sultan C, Lumbroso S, Poujol N, et al. Mutations of androgen receptor gene in androgen insensitivity syndromes. J Steroid Biochem Molec Biol 1995; 46: 519–30
  • Simental J A, Sar M, Lane M V, et al. Transcriptional activation and nuclear targeting signal of the human androgen receptor. J Biol Chem 1991; 266: 510–8
  • Gottlieb B. The androgen receptor gene mutation database. Nucleic Acids Res 1997; 25: 158–62
  • Kasumi H, Komori S, Yamasaki N, et al. Single nucleotide substitution of the androgen receptor gene in a case with receptor-positive androgen insensitivity syndrome. Acta Endocrinol 1995; 128: 355–60
  • Chang C, Kokontis J, Liao S. Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors. Proc Natl Acad Sci USA 1988; 85: 7211–5
  • Sanger F, Nichklen S, Coulson A R. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 1977; 74: 5463–7
  • Komori S, Tanaka H, Sakata K, et al. Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. Gynecol Endocrinol 1998; 12: 1–8
  • Rundlett S E, Wu X P, Miesfeld R L. Functional characterization of the androgen receptor confirms that the molecular basis of androgen action is transcriptional regulation. Mol Endocrinol 1990; 4: 708–14
  • Luehrsen K R, de Wot J R, Walbot V. Transient expression analysis in plants using firefly luciferase reporter gene. Methods in Enzymology, R Wu. Academic Press, San Diego 1992; 397–414
  • Lobaccaro J M, Poujol N, Chiche L, et al. Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations. Mol Cell Endocrinol 1996; 116: 137–47
  • Zoppi S, Marcelli M, Deslypere J-P, et al. Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance. Mol Endocrinol 1992; 5: 409–15
  • Luisi B F, Xu W X, Otwinowski Z, et al. Crystallo-graphic analysis of the interaction of the glucocorticoid receptor with DNA. Nature 1992; 352: 497–505

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