SPACA3 gene variants in a New Zealand cohort of infertile and fertile couples

References

• Abkevich, V., Zharkikh, A., Deffenbaugh, A.M., Frank, D., Chen, Y., Shattuck, D., et al. (2004). Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. Journal of Medical Genetics, 41, 492–507.
   PubMedGoogle Scholar
• Campana, A., de Agostini, A., Bischof, P., Tawfik, E., & Mastrorilli, A. (1995). Evaluation of infertility. Human Reproduction Update, 1, 586–606.
   PubMedGoogle Scholar
• Chiu, W.W. & Chamley, L.W. (2002). Use of antisperm antibodies in differential display Western blotting to identify sperm proteins important in fertility. Human Reproduction, 17, 984–989.
   PubMed Web of Science ®Google Scholar
• Chiu, W.W., Erikson, E.K., Sole, C.A., Shelling, A.N., & Chamley, L.W. (2004). SPRASA, a novel sperm protein involved in immune-mediated infertility. Human Reproduction, 19, 243–249.
   PubMedGoogle Scholar
• Collins, J.A. & Crosignani, P.G. (1992). Unexplained infertility: a review of diagnosis, prognosis, treatment efficacy and management. International Journal of Gynaecology and Obstetrics, 39, 267–275.
   PubMedGoogle Scholar
• den Dunnen, J.T. & Antonarakis, S.E. (2001). Nomenclature for the description of human sequence variations. Human Genetics, 109, 121–124.
   PubMed Web of Science ®Google Scholar
• Farquhar, C. (1998). Infertility: causes, investigations and treatments. New Zealand Family Physician, 25, 11–15.
   Google Scholar
• Friedman, R.C., Farh, K.K., Burge, C.B., & Bartel, D.P. (2009). Most mammalian mRNAs are conserved targets of microRNAs. Genome Research, 19, 92–105.
   PubMed Web of Science ®Google Scholar
• Grantham, R. (1974). Amino acid difference formula to help explain protein evolution. Science, 185, 862–864.
   PubMed Web of Science ®Google Scholar
• Grimson, A., Farh, K.K., Johnston, W.K., Garrett-Engele, P., Lim, L.P., & Bartel, D.P. (2007). MicroRNA targeting specificity in mammals: determinants beyond seed pairing. Molecular Cell, 27, 91–105.
   PubMed Web of Science ®Google Scholar
• Haqqi, T., Zhao, X., Panciu, A., & Yadav, S.P. (2002). Sequencing in the presence of betaine: Improvement in sequencing of the localized repeat sequence regions. Journal of Biomolecular Techniques, 13, 265–271.
   PubMedGoogle Scholar
• Herrero, M.B., Mandal, A., Digilio, L.C., Coonrod, S.A., Maier, B., & Herr, J.C. (2005). Mouse SLLP1, a sperm lysozyme-like protein involved in sperm-egg binding and fertilization. Developmental Biology, 284, 126–142.
   PubMed Web of Science ®Google Scholar
• HFEA. (2006). Facts and Figures: Fertility Problems and Treatment. http://www.hfea.gov.uk/5777.html (accessed October 2013).
   Google Scholar
• Kamath, M.S. & Bhattacharya, S. (2012). Demographics of infertility and management of unexplained infertility. Best Practice & Research. Clinical Obstetrics & Gynaecology, 26, 729–738.
   PubMedGoogle Scholar
• Lee, E., McKean-Cowdin, R., Ma, H., Chen, Z., Van Den Berg, D., Henderson, B.E., et al. (2008). Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. Breast Cancer Research, 10, R19.
   Google Scholar
• Lewis, B.P., Burge, C.B., & Bartel, D.P. (2005). Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell, 120, 15–20.
   PubMed Web of Science ®Google Scholar
• Li, W.H., Wu, C.I., & Luo, C.C. (1984). Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications. Journal of Molecular Evolution, 21, 58–71.
   PubMed Web of Science ®Google Scholar
• Liu, D.Y., Liu, M.L., Garrett, C., & Baker, H.W. (2007). Comparison of the frequency of defective sperm-zona pellucida (ZP) binding and the ZP-induced acrosome reaction between subfertile men with normal and abnormal semen. Human Reproduction, 22, 1878–1884.
   PubMedGoogle Scholar
• Mandal, A., Klotz, K.L., Shetty, J., Jayes, F.L., Wolkowicz, M.J., Bolling, L.C., et al. (2003). SLLP1, a unique, intra-acrosomal, non-bacteriolytic, c lysozyme-like protein of human spermatozoa. Biology of Reproduction, 68, 1525–1537.
   PubMed Web of Science ®Google Scholar
• Marrero, M.A. & Ory, S.J. (1991). Unexplained infertility. Current Opinion in Obstetrics & Gynecology, 3, 211–218.
   PubMedGoogle Scholar
• Miller, S.A., Dykes, D.D., & Polesky, H.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215.
   PubMed Web of Science ®Google Scholar
• Ng, P.C. & Henikoff, S. (2001). Predicting deleterious amino acid substitutions. Genome Research, 11, 863–874.
   PubMed Web of Science ®Google Scholar
• Ng, P.C. & Henikoff, S. (2003). SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Research, 31, 3812–3814.
   PubMed Web of Science ®Google Scholar
• Pasten-Hidalgo, K., Hernandez-Rivas, R., Roa-Espitia, A.L., Sanchez-Gutierrez, M., Martinez-Perez, F., Monrroy, A.O., et al. (2008). Presence, processing, and localization of mouse ADAM15 during sperm maturation and the role of its disintegrin domain during sperm-egg binding. Reproduction, 136, 41–51.
   PubMedGoogle Scholar
• Pellicer, A., Albert, C., Mercader, A., Bonilla-Musoles, F., Remohí, J., & Simón, C. (1998). The follicular and endocrine environment in women with endometriosis: local and systemic cytokine production. Fertility and Sterility, 70, 425–431.
   PubMed Web of Science ®Google Scholar
• Quaas, A. & Dokras, A. (2008). Diagnosis and treatment of unexplained infertility. Reviews in Obstetrics and Gynecology, 1, 69–76.
   PubMedGoogle Scholar
• Ramensky, V., Bork, P., & Sunyaev, S. (2002). Human non-synonymous SNPs: server and survey. Nucleic Acids Research, 30, 3894–3900.
   PubMed Web of Science ®Google Scholar
• Rudd, M.F., Williams, R.D., Webb, E.L., Schmidt, S., Sellick, G.S., & Houlston, R.S. (2005). The predicted impact of coding single nucleotide polymorphisms database. Cancer Epidemiology, Biomarkers & Prevention, 14, 2598–2604.
   PubMed Web of Science ®Google Scholar
• Schug, J. & Overton, G.C. (1997). TESS: Transcription Element Search Software on the WWW CBIL-TR-1997-1001-v0.0.
   Google Scholar
• Shi, Y.Y. & He, L. (2005). SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Research, 15, 97–98.
   PubMed Web of Science ®Google Scholar
• Wagner, A. (2009). The Role of SPRASA in Fertility Obstetrics and Gynaecology. 2009. University of Auckland, Auckland, pp. 247.
   Google Scholar
• Xi, T., Jones, I.M., & Mohrenweiser, H.W. (2004). Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function. Genomics, 83, 970–979.
   PubMed Web of Science ®Google Scholar
• Zhang, K., Gao, R., Zhang, H., Cai, X., Shen, C., Wu, C., et al. (2005). Molecular cloning and characterization of three novel lysozyme-like genes, predominantly expressed in the male reproductive system of humans, belonging to the c-type lysozyme/alpha-lactalbumin family. Biology of Reproduction, 73, 1064–1071.
   PubMedGoogle Scholar