title: Male infertility-linked point mutation disrupts the Ca2+ oscillation-inducing and PIP(2) hydrolysis activity of sperm PLCζ.
abstract: A male infertility-linked human PLCζ (phospholipase Cζ) mutation introduced into mouse PLCζ completely abolishes both in vitro PIP(2) (phosphatidylinositol 4,5-bisphosphate) hydrolysis activity and the ability to trigger in vivo Ca2+ oscillations in mouse eggs. Wild-type PLCζ initiated a normal pattern of Ca2+ oscillations in eggs in the presence of 10-fold higher mutant PLCζ, suggesting that infertility is not mediated by a dominant-negative mechanism.
authors.affiliation: Cell Signalling Laboratory, Wales Heart Research Institute, Cardiff University School of Medicine, Cardiff CF14 4XN, UK.
authors.forename: Michail
authors.initials: M
authors.lastname: Nomikos
authors.forename: Khalil
authors.initials: K
authors.lastname: Elgmati
authors.forename: Maria
authors.initials: M
authors.lastname: Theodoridou
authors.forename: Brian L
authors.initials: BL
authors.lastname: Calver
authors.forename: Bevan
authors.initials: B
authors.lastname: Cumbes
authors.forename: George
authors.initials: G
authors.lastname: Nounesis
authors.forename: Georg
authors.initials: G
authors.lastname: Nounesis
authors.forename: Karl
authors.initials: K
authors.lastname: Swann
authors.forename: F Anthony
authors.initials: FA
authors.lastname: Lai
mesh_terms: D000818:Animals; D002118:Calcium / Q000378:metabolism*; D020013:Calcium Signaling; D005260:Female; D006801:Humans; D006868:Hydrolysis; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D051379:Mice; D009865:Oocytes / Q000378:metabolism; D019269:Phosphatidylinositol 4,5-Diphosphate / Q000378:metabolism*; D054801:Phosphoinositide Phospholipase C / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation; D013094:Spermatozoa / Q000201:enzymology* / Q000378:metabolism
chemical_list: D019269:Phosphatidylinositol 4,5-Diphosphate; C499235:PLCZ1 protein, human; D054801:Phosphoinositide Phospholipase C; C499234:Plcz1 protein, mouse; D002118:Calcium