Premature Termination Mutation (772Glu→Stop) in the Hormone-Binding Domain of the Androgen Receptor in a Patient with the Receptor-Negative Form of Complete Androgen Insensitivity Syndrome

KYOSUKE IMASAKI; TAIJIRO OKABE; HIROSHI MURAKAMI; KEINOSUKE FUJITA; RYOICHI TAKAYANAGI; HAJIME NAWATA

doi:10.1507/endocrj.42.643

Premature Termination Mutation (⁷⁷²Glu→Stop) in the Hormone-Binding Domain of the Androgen Receptor in a Patient with the Receptor-Negative Form of Complete Androgen Insensitivity Syndrome

KYOSUKE IMASAKI, TAIJIRO OKABE, HIROSHI MURAKAMI, KEINOSUKE FUJITA, RYOICHI TAKAYANAGI, HAJIME NAWATA

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Keywords: Androgen receptor, Complete androgen insensitivity syndrome, Receptor-negaive form, Premature termination mutation, Constitutive transcriptional activity

JOURNAL FREE ACCESS

1995 Volume 42 Issue 5 Pages 643-648

DOI https://doi.org/10.1507/endocrj.42.643

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Abstract

We have characterized the androgen receptor in a Japanese infant with complete androgen insensitivity syndrome (or androgen resistance), and have investigated the molecular basis. Androgen binding was undetectable in cultured genital skin fibroblasts from this patient by whole-cell androgen receptor binding assay. Sequence analysis of the entire coding region of the androgen receptor gene from this patient revealed a single nucleotide substitution (G→T) at nucleotide position 2676 in exon E (or 5), resulting in conversion of glutamine codon (GAG) to amber stop codon (TAG) at amino acid position 772 within the hormone-binding domain of the androgen receptor. This premature termination mutation (or nonsense mutation), introducing a truncated androgen receptor that lacks most of its androgen binding capacity, is thought to cause the receptor-negative form of complete androgen insensitivity syndrome in this patient.

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