Molecular genetics of human androgen insensitivity

Terry R. Brown, Patricia A. Scherer, Ying Tai Chang, Claude J. Migeon, Paolo Ghirri, Koichi Murono, Zhifeng Zhou

Research output: Contribution to journalArticle

Abstract

Androgen insensitivity syndromes represent one cause of human male pseudohermaphroditism related to defects in the androgen receptor. The formation of a biologically active androgen receptor complex with testosterone and 5α-dihydrotestosterone is required for normal androgen action during fetal development and fifferentiation of the internal accessory sex glands and external genitalia. Cloning of the human androgen receptor complementary DNA and genetic screening of human subjects with the clinical and biochemical features of androgen insensitivity using the polymerase chain reaction, denaturing gradient gel electrophoresis and nucleotide sequencing techniques have led to the identification of molecular defects in the androgen receptor. The complexity of phenotypic presentation by affected subjects with the complete or partial forms of androgen insensitivity is represented by the heterogeneity of androgen receptor gene mutations which include deletions and point mutations, with the latter causing, inappropriate splicing of RNA, premature termination of transcription and amino acid substitutions. The naturally occurring mutations in the androgen receptor of subjects with androgen insensitivity represent a base upon which we can increase our understanding of the structure and function of the androgen receptor in normal physiology, and disease.

Original languageEnglish (US)
JournalEuropean Journal of Pediatrics
Volume152
Issue number2 Supplement
DOIs
StatePublished - Feb 1993

Fingerprint

Androgen Receptors
Androgens
Molecular Biology
Androgen-Insensitivity Syndrome
XY Disorders of Sex Development 46
RNA Splicing
Denaturing Gradient Gel Electrophoresis
Mutation
Genitalia
Dihydrotestosterone
Sequence Deletion
Genetic Testing
Amino Acid Substitution
Fetal Development
Point Mutation
Testosterone
Organism Cloning
Nucleotides
Complementary DNA
Polymerase Chain Reaction

Keywords

  • Androgen
  • Genetics
  • Human
  • Mutations
  • Receptor

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Brown, T. R., Scherer, P. A., Chang, Y. T., Migeon, C. J., Ghirri, P., Murono, K., & Zhou, Z. (1993). Molecular genetics of human androgen insensitivity. European Journal of Pediatrics, 152(2 Supplement). https://doi.org/10.1007/BF02125442

Molecular genetics of human androgen insensitivity. / Brown, Terry R.; Scherer, Patricia A.; Chang, Ying Tai; Migeon, Claude J.; Ghirri, Paolo; Murono, Koichi; Zhou, Zhifeng.

In: European Journal of Pediatrics, Vol. 152, No. 2 Supplement, 02.1993.

Research output: Contribution to journalArticle

Brown, TR, Scherer, PA, Chang, YT, Migeon, CJ, Ghirri, P, Murono, K & Zhou, Z 1993, 'Molecular genetics of human androgen insensitivity', European Journal of Pediatrics, vol. 152, no. 2 Supplement. https://doi.org/10.1007/BF02125442
Brown TR, Scherer PA, Chang YT, Migeon CJ, Ghirri P, Murono K et al. Molecular genetics of human androgen insensitivity. European Journal of Pediatrics. 1993 Feb;152(2 Supplement). https://doi.org/10.1007/BF02125442
Brown, Terry R. ; Scherer, Patricia A. ; Chang, Ying Tai ; Migeon, Claude J. ; Ghirri, Paolo ; Murono, Koichi ; Zhou, Zhifeng. / Molecular genetics of human androgen insensitivity. In: European Journal of Pediatrics. 1993 ; Vol. 152, No. 2 Supplement.
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