title: Deletion of GOLGA2P3Y but not GOLGA2P2Y is a risk factor for oligozoospermia.
abstract: The AZFc locus on the human Y chromosome harbours several multicopy genes, some of which are required for spermatogenesis. It is believed that deletion of one or more copies of these genes is a cause of infertility in some men. GOLGA2LY is one of the genes in the AZFc locus and it exists in two copies, GOLGA2P2Y and GOLGA2P3Y. The involvement of GOLGA2LY gene copy deletions in male infertility, however, is unknown. This study aimed to investigate the association of deletions of GOLGA2P2Y and GOLGA2P3Y gene copies with male infertility and with sperm concentration and motility. The frequency of GOLGA2P3Y deletion was significantly higher in oligozoospermic men compared with normozoospermic men (7.7% versus 1.2%; P = 0.0001), whereas the frequency of GOLGA2P2Y deletion was comparable between oligozoospermic and normozoospermic men (10.3% versus 11.3%). The deletion of GOLGA2P3Y but not GOLGA2P2Y was significantly higher (P = 0.03) in men with gr/gr rearrangements, indicating that GOLGA2P3Y deletions increase the susceptibility of men with gr/gr rearrangements to oligozoospermia. Furthermore, men with GOLGA2P3Y deletion had reduced sperm concentration and motility compared with men without deletion or with deletion of GOLGA2P2Y. These findings indicate GOLGA2P3Y gene copy may be candidate AZFc gene for male infertility.
authors.affiliation: Molecular and Cellular Biology Laboratory, National Institute for Research in Reproductive Health (ICMR), JM Street, Parel, Mumbai, 400 012, India.
authors.forename: Sanjukta
authors.initials: S
authors.lastname: Sen
authors.affiliation: Molecular and Cellular Biology Laboratory, National Institute for Research in Reproductive Health (ICMR), JM Street, Parel, Mumbai, 400 012, India.
authors.forename: Rupesh
authors.initials: R
authors.lastname: Agarwal
authors.affiliation: Human Genetic Division, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, 442102, Wardha, India.
authors.forename: Prafulla
authors.initials: P
authors.lastname: Ambulkar
authors.affiliation: Hinduja IVF Centre, PD Hinduja Hospital and Medical Research Center, Veer Savarkar Marg, Mahim, Mumbai, 400016, India.
authors.forename: Indira
authors.initials: I
authors.lastname: Hinduja
authors.affiliation: Hinduja IVF Centre, PD Hinduja Hospital and Medical Research Center, Veer Savarkar Marg, Mahim, Mumbai, 400016, India.
authors.forename: Kusum
authors.initials: K
authors.lastname: Zaveri
authors.affiliation: Department of Reproductive Endocrinology and Infertility, National Institute for Research in Reproductive Health (ICMR), JM Street, Parel, Mumbai, 400012, India.
authors.forename: Jyotsna
authors.initials: J
authors.lastname: Gokral
authors.affiliation: Human Genetic Division, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, 442102, Wardha, India.
authors.forename: Asoke
authors.initials: A
authors.lastname: Pal
authors.affiliation: Molecular and Cellular Biology Laboratory, National Institute for Research in Reproductive Health (ICMR), JM Street, Parel, Mumbai, 400 012, India. Electronic address: deepaknmodi@yahoo.com.
authors.forename: Deepak
authors.initials: D
authors.lastname: Modi
mesh_terms: D001324:Autoantigens / Q000235:genetics* / Q000502:physiology; D041322:Chromosomes, Human, Y; D017353:Gene Deletion; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D009845:Oligospermia / Q000235:genetics* / Q000503:physiopathology; D012307:Risk Factors; D017384:Sequence Deletion; D013076:Sperm Count; D013081:Sperm Motility; D013091:Spermatogenesis; D013094:Spermatozoa / Q000502:physiology; D013696:Temperature
chemical_list: D001324:Autoantigens; C097741:Golgin subfamily A member 2; D008565:Membrane Proteins
keywords: AZFc; GOLGA2LY; gr/gr rearrangements; oligozoospermia; sperm count; sperm motility