Transcriptome analysis of steroidogenic cells in knockout mice lacking steroidogenic acute regulatory protein

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Steroidogenic acute regulatory protein (StAR) is responsible for congenital lipoid adrenal hyperplasia (StAR deficiency). To delineate a specific pattern of gene expression associated with StAR deficiency, we analyzed the transcriptome of adrenocortical cells isolated by fluorescence-activated cell sorting at E17.5 or E18.5 from seven wild-type and four StAR knockout (Star-/-) mice with transgene targeting eGFP to StAR-expressing cell lineages. We identified that 1,206 and 767 genes were significantly up-regulated and down-regulated, respectively, and that genes involved in cholesterol efflux and inflammatory or immune response were significantly up-regulated in Star-/- mice. An increased number of macrophages were detected in the adrenal glands of Star-/- mice by immunohistochemistry. These results revealed the cholesterol efflux and the inflammatory or immune response as new pathophysiological hallmarks in the adrenocortical cells of Star-/- mice.