Article
Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.
Human molecular genetics - 1 Nov 2007
Demura Masashi, Martin Regina M, Shozu Makio, Sebastian Siby, Takayama Kazuto, Hsu Wei-Tong, Schultz Roger A, Neely Kirk, Bryant Michael, Mendonca Berenice B, Hanaki Keiichi, Kanzaki Susumu, Rhoads David B, Misra Madhusmita, Bulun Serdar E
Abstract excerpt
Production of appropriate quantities of estrogen in various tissues is essential for human physiology. A single gene (CYP19), regulated via tissue-specific promoters, encodes the enzyme aromatase, which catalyzes the key step in estrogen biosynthesis. Aromatase excess syndrome is inherited as autosomal dominant and characterized by high systemic estrogen levels, short stature, prepubertal gynecomastia and...
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