Expression of size-polymorphic androgen receptor (AR) gene in ovarian endometriosis according to the number of cytosine, adenine, and guanine (CAG) repeats in AR alleles

Jiro Fujimoto, J Fujimoto, Fujimoto J, Reiko Hirose, Hirose R, R Hirose, Hideki Sakaguchi, Sakaguchi H, H Sakaguchi, T Tamaya, Tamaya T, Teruhiko Tamaya
Steroids · 1999 · vol. 64(8) , pp. 526–529 · doi:10.1016/s0039-128x(99)00025-2 · PMID:10493597 · W1988670338
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This study investigated the expression of the size-polymorphic androgen receptor (AR) gene in ovarian endometriosis, analyzing the impact of CAG repeat numbers within AR alleles.

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Abstract

An increase in androgen receptor (AR) caused by estrogen is recognized as one of the biological phenomena related to estrogen-induced growth in uterine endometrium. The A/B region of AR gene in X chromosome involves the cytosine, adenine, and guanine (CAG) repeats. Random X chromosome inactivation with AR alleles in individual cells occurs in females. Therefore, approximately either paternal or maternal single dominant polymorphic AR mRNA must be expressed in neoplastic tissue originated from monoclone. This prompted us to determine deviated number of CAG repeats in AR mRNA to understand clonality in ovarian endometriosis. In all cases of heterozygous AR alleles, although paternal and maternal AR mRNAs from normal eutopic uterine endometrium were consistently expressed as AR alleles, either paternal or maternal single dominant AR mRNA expression was found in an individual ovarian endometrioma. Therefore, an individual ovarian endometrioma might be formed from an independent monoclonal ovarian endometriotic endometrial cell after inactivation of either AR allele in X chromosome.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Ovarian Diseases Polymorphism, Genetic Receptors, Androgen Trinucleotide Repeats Adenine Adult Cytosine Endometriosis Endometriosis Female Guanine Heterozygote Homozygote Humans Ovarian Diseases Ovarian Diseases Receptors, Androgen

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