作者: C. Krausz , E. Casamonti
DOI: 10.1007/S00439-017-1793-8
关键词:
摘要: The Y chromosome harbors a number of genes essential for testis development and function. Its highly repetitive structure predisposes this to deletion/duplication events is responsible Y-linked copy-number variations (CNVs) with clinical relevance. AZF deletions remove predicted spermatogenic function en block are the most frequent known molecular causes impaired spermatogenesis (5–10% azoospermic 2–5% severe oligozoospermic men). Testing deletion has both diagnostic prognostic value testicular sperm retrieval in men. dynamic region on Yq AZFc region, presenting numerous NAHR hotspots leading partial losses or gains genes. gr/gr (a deletion) negatively affects efficiency it validated, population-dependent risk factor oligozoospermia. In certain populations, background may play role phenotypic expression rearrangements similarly affect predisposition specific deletions/duplication events. Also, Yp contains gene array, TSPY1, potential effect germ cell proliferation. Despite intensive investigations during last 20 years sex spermatogenesis, basic questions remain be answered. This review aimed at providing an overview chromosome-linked genes, CNVs, spermatogenesis.