title: 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.
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 though to cause the receptor-negative form of complete androgen insensitivity syndrome in this patient.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Imasaki
authors.forename: T
authors.initials: T
authors.lastname: Okabe
authors.forename: H
authors.initials: H
authors.lastname: Murakami
authors.forename: K
authors.initials: K
authors.lastname: Fujita
authors.forename: R
authors.initials: R
authors.lastname: Takayanagi
authors.forename: H
authors.initials: H
authors.lastname: Nawata
mesh_terms: D001483:Base Sequence; D001706:Biopsy; D002478:Cells, Cultured; D004247:DNA / Q000032:analysis*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009679:Nuclear Family; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: D011944:Receptors, Androgen; D004247:DNA