Polymorphisms in the human cysteine-rich secretory protein 2 (CRISP2) gene in Australian men
D Jamsai, A Reilly, SJ Smith, GM Gibbs, HWG Baker, RI McLachlan, DM de Kretser, MK O'Bryan
HUMAN REPRODUCTION | OXFORD UNIV PRESS | Published : 2008
BACKGROUND: Cysteine-rich secretory protein 2 (CRISP2) is localized to the human sperm acrosome and tail. It can regulate ryanodine receptors Ca(2+) gating and binds to mitogen-activated protein kinase kinase kinase 11 in the acrosome and gametogenetin 1 (GGN1) in the tail. METHODS AND RESULTS: In order to test the hypothesis that CRISP2 variations contribute to male infertility, we screened coding and flanking intronic regions in 92 infertile men with asthenozoo- and/or teratozoospermia and 176 control men using denaturing HPLC and sequencing. There were 21 polymorphisms identified, including 13 unreported variations. Three SNPs resulted in amino acid substitutions: L59V, M176I and C196R. A..View full abstract
The research was supported by grants from the National Health and Medical Research Council (NHMRC) and the Australian Research Council (ARC). D.J., M.K.O.B. and R.I.M.L. are the recipients of NHMRC Fellowships. The Monash Male Infertility Repository was funded by Andrology Australia, Monash IVF, The Victorian State Government, Monash University and Prince Henry's Institute.