Genetic Regulation of the Androgen Receptor: A Study of Testicular Feminization in the Mouse

    C. Wayne Bardin, Leslie P. Bullock, Olli A. Jänne, Samson T. Jacob
    TLDR The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
    The study on testicular feminization (TFM) in mice, published in 1975, investigated the genetic regulation of the androgen receptor. TFM is an inherited disorder causing genetic males to present as phenotypic females due to end organ insensitivity to androgens. The research indicated that a major tissue abnormality in TFM is decreased cytosol androgen receptor activity, leading to reduced nuclear binding of testosterone and dihydrotestosterone. This deficiency likely impairs RNA and DNA synthesis initiation, explaining the androgen insensitivity. The findings supported a direct correlation between the TFM gene, androgen receptor activity, and androgen response.
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