SPACA3gene variants in a New Zealand cohort of infertile and fertile couples

Abstract

School of Veterinary Medicine and Science, Sutton Bonington Campus, University of Nottingham, Loughborough, UKAbstract SPRASA (also referred to as SLLP1) is a protein identifi ed in the acrosome of human sperm and encoded by the gene SPACA3 . SPRASA is associated with sperm-oocyte recognition and binding, and may play a role in fertility. In order to determine whether variants in the SPACA3 gene are associated with human infertility, we undertook a genetic analysis of 102 infertile and 104 fertile couples. Three gene variants were identifi ed using PCR-based DNA sequencing; 1) an insertion of TGC within a quadruple trinucleotide (TGC) repeat region in the 5 ′ untranslated region (UTR) (g. -22TGC(4_5), 2) a guanine to adenosine transition at position 239 (c.239G Ͼ A) resulting in a non-synonymous amino acid substitution from cysteine to tyrosine (p.C80Y) at position 80 in the putative transmembrane region, and 3) a novel nucleotide variant (c.691G Ͼ C) located in the 3 ′ UTR. A functional effect of the g. -22TGC (4_5) was confi rmed by a luciferase expression assay, while the effects of the variants c.239G Ͼ A and c.691G Ͼ C were predicted using in silico analysis. Although the frequencies of these variants were not signifi cantly different between the infertile and fertile populations, we present evidence that the variants could affect the expression levels or function of SPRASA , thereby affecting a couple ' s fertility. Larger populations, especially individuals/couples with unexplained infertility, need to be screened for these variants to validate a relationship with fertility.

The antioxidant effects of butylated hydroxytoluene on cryopreserved goat sperm from a proteomic perspective

“…As a member of c-type lysozyme/alpha-lactalbumin family, SPRASA has an exon-intron organization and sequence conservation, similar to c-type lysozymes ( Chiu et al, 2004 ; Wagner et al, 2015 ). Afterwards, it has been reported that the protein could be a target for anti-sperm antibodies in some infertile male, playing possible roles in sperm-egg bonding process, as well as subsequent development of early embryo in hamster, murine or bovine models ( Prendergast et al, 2014 ). In this study, the expression of SPRASA was higher in cryopreserved goat spermatozoa without antioxidant cryo-protection, suggesting that this protein may be a potential infertile marker of frozen-thawed goat sperm, and its specific molecular function is worth further exploration.…”