E2F1 copy number variations contribute to spermatogenic impairment and cryptorchidism by increasing susceptibility to heat stress

• Published in: Andrology (Oxford) Vol. 7; no. 2; pp. 251 - 256
• Main Authors: Rocca, M. S., Di Nisio, A., Sabovic, I., Ghezzi, M., Foresta, C., Ferlin, A.
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.03.2019
• Subjects: Adult; copy number variations; cryptorchidism; Cryptorchidism - complications; DNA Copy Number Variations; E2F1; E2F1 Transcription Factor - genetics; Gene expression; heat stress; Heat-Shock Response - physiology; Humans; idiopathic infertility; Infertility; Infertility, Male - complications; Infertility, Male - genetics; Male; Middle Aged; Retrospective Studies; Spermatogenesis; Spermatozoa - metabolism; Spermatozoa - pathology; E2F1; heat stress; copy number variations; idiopathic infertility; cryptorchidism

Background Copy number variations (CNVs) play an important role in the onset of several diseases, and recently research focused on the relationship between these structural variants and diseases of the reproductive tract, including male infertility and cryptorchidism. Objectives To evaluate the cont...