• PMID: 2293020
• Gene Name: AR
• Condition: Androgen resistance
• Association: The introduction of a termination codon into the sequence of the normal androgen receptor cDNA at this position leads to a decrease in the amount of mRNA encoding the human androgen receptor and the synthesis of a truncated receptor protein that is unable
• Mutation: single nucleotide substitution at nucleotide 1924 in exon 3 resulting in K588Stop
• Population size: 1
• Population details: 1 patient with androgen resistance
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Androgen resistance

Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance

Marcelli M, Tilley WD, Wilson CM, Griffin JE, Wilson JD, McPhaul MJ.

We have isolated and characterized the gene encoding the human androgen receptor. The coding sequence is divided into eight coding exons and spans a minimum of 54 kilobases. The positions of the exon boundaries are highly conserved when compared to the location of the exon boundaries of the chicken progesterone and human estrogen receptor genes. Definition of the intron/exon boundaries has permitted the synthesis of specific oligonucleotides for use in the amplification of segments of the androgen receptor gene from samples of total genomic DNA. This technique allows the analysis of all segments of the androgen receptor gene except a small region of exon 1 that encodes the glycine homopolymeric segment. Using these methods we have analyzed samples of DNA prepared from a patient with complete androgen resistance and have detected a single nucleotide substitution at nucleotide 1924 in exon 3 of the androgen receptor gene that results in the conversion of a lysine codon into a premature termination codon at amino acid position 588. The introduction of a termination codon into the sequence of the normal androgen receptor cDNA at this position leads to a decrease in the amount of mRNA encoding the human androgen receptor and the synthesis of a truncated receptor protein that is unable to bind ligand and is unable to activate the long terminal repeat of the mouse mammary tumor virus in cotransfection assays. FAU - Marcelli, M AU - Marcelli M AD - Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857. FAU - Tilley, W D AU - Tilley WD FAU - Wilson, C M AU - Wilson CM FAU - Griffin, J E AU - Griffin JE FAU - Wilson, J D AU - Wilson JD