Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome.

ABSTRACT: Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development usually caused by mutations in the androgen receptor (AR) gene. AIS is characterized by a poor genotype-phenotype correlation, and many patients with clinically presumed AIS do not seem to have mutations in the AR gene. We therefore aimed at identifying a biomarker enabling the assessment of the cellular function of the AR as a transcriptional activator. In the first step, we used complementary DNA (cDNA) microarrays for a genome-wide screen for androgen-regulated genes in two normal male primary scrotal skin fibroblast strains compared to two labia majora fibroblast strains from 46,XY females with complete AIS (CAIS). Apolipoprotein D (APOD) and two further transcripts were significantly upregul

SUBMITTER: Appari M 

PROVIDER: S-EPMC5518750 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature