Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome

Figure 1

Simplified schematic representation indicating the genomic structure of CYP19A1. CYP19A1 is located on 15q21.2 adjacent to DMXL2 and GLDN and consists of at least 11 noncoding exons 1 and nine coding exons 2–10 [9, 10]. Each exon 1 is accompanied by a tissue-specific promoter and is spliced alternatively onto a common splice acceptor site at exon 2 [9–13].