Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility

Figure 1 Genomic location of the androgen receptor gene on the X chromosome and schematic structure of the encoded protein. The upper panel shows the short (p) and long (q) arms of the X chromosome, with the androgen receptor (AR) gene located at Xq11-12. The middle panel illustrates the 5'→3'orientation of the AR gene, which contains eight exons (colored boxes). Exon 1 encodes the N-terminal transactivation domain (NTD), whereas exons 2-3 and 4-8 encode the DNA-binding domain (including zinc finger motifs) and ligand-binding domain (LBD), respectively. The lower panel displays the major structural domains of the AR protein: The NTD, which contains two polymorphic polyglutamine glutamine tracts; the DNA-binding domain, comprising two zinc fingers and a hinge region; and the LBD located at the C-terminus. Black arrows indicate the distribution of mutation sites identified in this study, which are predominantly clustered in the NTD and LBD. AR: Androgen receptor; NTD: N-terminal transactivation domain; DBD: DNA-binding domain; LBD: Ligand-binding domain; Gln: Glutamine; ZFM: Zinc finger motif; Gln(n): Glutamine (n repeats).