Androgen Receptor Genetics and Male Infertility
Summary
The androgen receptor (AR) is a ligand-activated transcription factor encoded on the X-chromosome that mediates the effects of testosterone and dihydrotestosterone in the testis and accessory glands. Its structure includes a polymorphic polyglutamine (CAG) tract, a DNA-binding domain and a ligand-binding domain; variation in these regions can alter receptor stability, nuclear translocation and gene regulation. Androgen signalling is essential for Sertoli cell function, germ cell survival and sperm maturation. Disruption of AR activity by expanded CAG repeats, point mutations or gene deletions has been implicated in a spectrum of spermatogenic failure, ranging from oligozoospermia to complete azoospermia. As male infertility affects a significant proportion of couples worldwide, understanding AR genetics offers prospects for improved diagnosis, personalised counselling and novel pharmacological or gene-editing interventions.
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Androgen Receptor Genetics and Male Infertility publication trend
The graph below shows the total number of articles in androgen receptor genetics and male infertility across all publications each year (not limited to Nature Index journals).
Technical terms
Androgen receptor (AR): A nuclear transcription factor activated by testosterone or dihydrotestosterone that regulates genes essential for male reproductive development and spermatogenesis.
CAG repeat polymorphism: A variable-length sequence of cytosine–adenine–guanine codons in the AR gene that encodes a polyglutamine tract; repeat expansion can diminish receptor function.
Spermatogenesis: The multistage process in the seminiferous tubules by which diploid germ cells differentiate into mature haploid spermatozoa.
Azoospermia: The complete absence of sperm in the ejaculate, often a clinical manifestation of severe spermatogenic failure.
Missense mutation: A single-nucleotide change in DNA that results in the substitution of one amino acid for another in the encoded protein, potentially altering its function or stability.
References
- Genetic Association Between Androgen Receptor Gene CAG Repeat Length Polymorphism and Male Infertility. Medicine (2016).
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