مشخصات پژوهش

صفحه نخست /Spermatogenesis disorder is ...
عنوان
Spermatogenesis disorder is associated with mutations in the ligand‐binding domain of an androgen receptor
عنوان مجله ANDROLOGIA
نوع پژوهش مقاله چاپ شده
کلیدواژه‌ها
androgen receptor, homology modelling, idiopathic infertility, nucleotide polymorphisms
چکیده
Androgens play a key role in spermatogenesis, and their functions are mediated by the androgen receptor (AR). Some mutations in the AR gene have the potential to alter the primary structure and function of the protein. The aim of this study was to investigate the AR gene mutations in a cohort of males with idiopathic azoospermia referred to Royan Institute. Fifty‐one biopsy samples were obtained for routine clini‐ cal purposes from 15 men with hypospermatogenesis (HS), 17 patients with matu‐ ration arrest (MA) and 19 patients with Sertoli cell‐only syndrome (SCOS). The AR cDNAs were prepared from tissue mRNAs and were sequenced. One synonymous variant and three nonsynonymous protein coding single nucleotide polymorphisms (nsSNPs) were detected. Protein structure prediction demonstrated that the S815I and M746T nonsynonymous variants would affect protein structure and its normal function. Our study suggests that mutations in the AR gene would change or disturb the receptor's normal activity. Although these variations may influence spermato‐ genesis, it is difficult to say that they lead to a lack of spermatogenesis.
پژوهشگران نفیسهحسنی (نفر اول)، آناهیتامحسنی میبدی (نفر دوم)، عالمهرفایی (نفر سوم)، محمدعلیصادقی (نفر چهارم)، رضامحمد زاده (نفر پنجم)، مرجانصباغیان (نفر ششم به بعد)