CYP11A1 encodes the P450scc enzyme that catalyzes the first and rate-limiting step of steroid biosynthesis. It is expressed in the adrenals and gonads under the control of pituitary peptide hormones. Transcription factor SF-1, which binds to the CYP11A1 promoter, plays an important role in the tissue-specific and hormonally regulated expression. Transgenic mouse experiments linking the CYP11A1 promoter to a reporter gene demonstrate the importance of the SF-1-binding site in directing balanced CYP11A1 gene expression. In addition, targeted mutagenesis of Cyp11a1 also reveals the importance of this gene in steroid secretion, gene regulation, and development of genitalia. Zebrafish cyp11a1 is expressed in the gonads and interrenal glands in the adults, similar to mammals. In addition, it is expressed in yolk syncytial layer during early embryogenesis. These two animal models complement each other for the understanding of gene regulatory pathways in human diseases related to steroid imbalance.
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