Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.
Thermolability of androgen binding was compared in fibroblasts cloned from normal female skin, skin from a subject with testicular feminization whose mutation is known to be associated with a thermolabile androgen receptor, and from the mother of the subject with testicular feminization. Seven of 28 clones studied from the mother exhibited thermolability of binding, indicating that the mutant gene that causes thermolability of binding, like the gene responsible for the normal androgen receptor, is X-linked.
D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D002648:Child; D002999:Clone Cells / Q000378:metabolism; D004963:Estrenes / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005796:Genes; D006579:Heterozygote; D006358:Hot Temperature; D006801:Humans; D007223:Infant; D008297:Male; D015741:Metribolone; D009154:Mutation; D011944:Receptors, Androgen / Q000378:metabolism*; D011987:Receptors, Steroid / Q000378:metabolism*; D014960:X Chromosome / Q000502:physiology
D004963:Estrenes; D011944:Receptors, Androgen; D011987:Receptors, Steroid; D015741:Metribolone