Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.

Abstract excerpt

We have analyzed the nucleotide sequence of the androgen receptor from 22 unrelated subjects with substitution mutations of the hormone-binding domain. Eleven had the phenotype of complete testicular feminization, four had incomplete testicular feminization, and seven had Reifenstein syndrome. The underlying functional defect in cultured skin fibroblasts included individuals with absent, qualitative, or...

Topics

• Amino Acid Sequence
• Binding Sites
• Cells, Cultured
• Humans
• Molecular Sequence Data
• Multigene Family
• Mutation
• Receptors, Androgen
• Receptors, Thyroid Hormone