Journal article

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

Abstract

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..

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University of Melbourne Researchers