Genome-wide screening of biomarkers in androgen insensitivity syndrome (AIS)

Appari, Mahesh

Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development usually caused by mutations in the androgen receptor (AR) gene. Genotype-phenotype correlation does not exist in AIS, and many patients with clinically presumed AIS do not seem to have mutations in the AR gene. We aimed at identifying androgen induced genes enabling the assessment of the cellular function of the AR as a transcriptional activator. We used complementary DNA (cDNA) microarrays for a genome-wide screen for androgen-regulated genes in normal male primary scrotal skin fibroblast strains compared to labia majora fibroblast strains from 46,XY females with complete AIS (CAIS). Apolipoprotein D (APOD) and two further transcripts were significantly upregulated by dihydrotestosterone (DHT) in scrotum fibroblasts. Microarray data were well correlated with quantitative real-time polymerase chain reaction. In the second step we used Oligo microarrays to identify the androgen induced genes in peripheral blood mononuclear cells (PBMCs). We observed poor androgen mediated gene transcription in PBMCs. APOD induction measurement by qRT-PCR in primary cultures of labioscrotal skin fibroblasts is a promising tool for assessing AR function, allowing a function-based diagnostic evaluation of AIS in the future.

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Appari, Mahesh: Genome-wide screening of biomarkers in androgen insensitivity syndrome (AIS).

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