Spermatozoa as biomarkers for the assessment of human male infertility and genotoxicity

References

• Amann, R.P. (2008) The cycle of the seminiferous epithelium in humans: a need to revisit? J Androl 29:469–487.
   PubMedGoogle Scholar
• Bartoov, B., Eltes, F., Pansky, M., Lederman, H., Caspi, E. and Soffer, Y. (1993) Estimating fertility potential via semen analysis data. Hum Reprod 8:65–70.
   PubMed Web of Science ®Google Scholar
• Blanco, J., Egozcue, J. and Vidal, F. (1996) Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization. Hum Reprod 11:722–726.
   PubMed Web of Science ®Google Scholar
• Boissonnas, C.C., Abdalaoui, H.E., Haelewyn, V., Fauque, P., Dupont, J.M., Gut, I., (2010) Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men. Eur J Hum Genet 18:73–80.
   PubMed Web of Science ®Google Scholar
• Bonde, J.P., Ernst, E., Jensen, T.K., Hjollund, N.H., Kolstad, H., Henriksen, T.B., (1998) Relation between semen quality and fertility: a population-based study of 430 first-pregnancy planners. Lancet 352:1172–1177.
   PubMed Web of Science ®Google Scholar
• Bourc'his, D. and Voinnet, O. (2010) A small-RNA perspective on gametogenesis, fertilization, and early zygotic development. Science 330:617–622.
   PubMed Web of Science ®Google Scholar
• Buckman, C., George, T.C., Friend, S., Sutovsky, M., Miranda-Vizuete, A. and Ozanon, C., (2009) High throughput, parallel imaging and biomarker quantification of human spermatozoa by ImageStream flow cytometry. Syst Biol Reprod Med 55:244–251.
   PubMed Web of Science ®Google Scholar
• Carlsen, E., Giwercman, A., Keiding, N. and Skakkebaek, N.E. (1992) Evidence for decreasing quality of semen during past 50 years. BMJ 305:609–613.
   PubMed Web of Science ®Google Scholar
• Carlsen, E., Petersen, J.H., Andersson, A.M. and Skakkebaek, N.E. (2004) Effects of ejaculatory frequency and season on variations in semen quality. Fertil Steril 82:358–366.
   PubMed Web of Science ®Google Scholar
• Chia, S.E., Tay, S.K. and Lim, S.T. (1998) What constitutes a normal seminal analysis? Semen parameters of 243 fertile men. Hum Reprod 13:3394–3398.
   PubMed Web of Science ®Google Scholar
• Chohan, K.R., Griffin, J.T., Lafromboise, M., De Jonge, C.J. and Carrell, D.T. (2006) Comparison of chromatin assays for DNA fragmentation evaluation in human sperm. J Androl 27:53–59.
   PubMedGoogle Scholar
• Collins, A.R. (2004) The comet assay for DNA damage and repair: principles, applications, and limitations. Mol Biotechnol 26:249–261.
   PubMed Web of Science ®Google Scholar
• Dadoune, J.P. (2009) Spermatozoal RNAs: what about their functions? Microsc Res Tech 72:536–551.
   PubMed Web of Science ®Google Scholar
• Dadoune, J.P., Pawlak, A., Alfonsi, M.F. and Siffroi, J.P. (2005) Identification of transcripts by macroarrays, RT-PCR and in situ hybridization in human ejaculate spermatozoa. Mol Hum Reprod 11:133–140.
   PubMed Web of Science ®Google Scholar
• Dallinga, J.W., Moonen, E.J., Dumoulin, J.C., Evers, J.L., Geraedts, J.P. and Kleinjans, J.C. (2002) Decreased human semen quality and organochlorine compounds in blood. Hum Reprod 17:1973–1979.
   PubMed Web of Science ®Google Scholar
• Duran, E.H., Morshedi, M., Taylor, S. and Oehninger, S. (2002) Sperm DNA quality predicts intrauterine insemination outcome: a prospective cohort study. Hum Reprod 17:3122–3128.
   PubMed Web of Science ®Google Scholar
• Duty, S.M., Silva, M.J., Barr, D.B., Brock, J.W., Ryan, L., Chen, Z., (2003) Phthalate exposure and human semen parameters. Epidemiology 14:269–277.
   PubMed Web of Science ®Google Scholar
• Egozcue, J., Blanco, J., Anton, E., Egozcue, S., Sarrate, Z. and Vidal, F. (2003) Genetic analysis of sperm and implications of severe male infertility–a review. Placenta 24 Suppl B:S62–65.
   PubMed Web of Science ®Google Scholar
• Evenson, D. and Jost, L. (1994) Sperm Chromatin Structure Assay - DNA Denaturability. Methods Cell Biol Vol 42:159–176.
   PubMed Web of Science ®Google Scholar
• Evers, J.L. (2002) Female subfertility. Lancet 360:151–159.
   PubMed Web of Science ®Google Scholar
• Fernandez, J.L., Muriel, L., Rivero, M.T., Goyanes, V., Vazquez, R. and Alvarez, J.G. (2003) The sperm chromatin dispersion test: a simple method for the determination of sperm DNA fragmentation. J Androl 24:59–66.
   PubMedGoogle Scholar
• Garcia-Herrero, S., Garrido, N., Martinez-Conejero, J.A., Remohi, J., Pellicer, A. and Meseguer, M. (2011) Differential transcriptomic profile in spermatozoa achieving pregnancy or not via ICSI. Reprod Biomed Online 22:25–36.
   PubMed Web of Science ®Google Scholar
• Garcia-Herrero, S., Meseguer, M., Martinez-Conejero, J.A., Remohi, J., Pellicer, A. and Garrido, N. (2010) The transcriptome of spermatozoa used in homologous intrauterine insemination varies considerably between samples that achieve pregnancy and those that do not. Fertil Steril 94:1360–1373.
   PubMed Web of Science ®Google Scholar
• Garrido, N., Martinez-Conejero, J.A., Jauregui, J., Horcajadas, J.A., Simon, C., Remohi, J., (2009) Microarray analysis in sperm from fertile and infertile men without basic sperm analysis abnormalities reveals a significantly different transcriptome. Fertil Steril 91:1307–1310.
   PubMed Web of Science ®Google Scholar
• Goldstein, M. (2002) Surgical management of male infertility and other scrotal disorders. In Campbell's Urology ed. Walsh, P.C., Retik, A.B., Vaughan, E.D. and Wein, A.J. W.B. Saunders Company, Philadelphia, PA, USA, pp. 1532–1587.
   Google Scholar
• Goodrich, R.J., Anton, E. and Krawetz, S.A. (In Press) Isolating mRNA and small noncoding RNAs from human sperm. Methods in Molecular Biology: Spermatogenesis and Spermiogenesis:Methods and Protocols.
   Google Scholar
• Grunewald, S., Paasch, U., Glander, H.J. and Anderegg, U. (2005) Mature human spermatozoa do not transcribe novel RNA. Andrologia 37:69–71.
   PubMed Web of Science ®Google Scholar
• Guzick, D.S., Overstreet, J.W., Factor-Litvak, P., Brazil, C.K., Nakajima, S.T., Coutifaris, C., (2001) Sperm morphology, motility, and concentration in fertile and infertile men. N Engl J Med 345:1388–1393.
   PubMed Web of Science ®Google Scholar
• Hammoud, A., Carrell, D.T., Gibson, M., Sanderson, M., Parker-Jones, K. and Peterson, C.M. (2010a) Decreased sperm motility is associated with air pollution in Salt Lake City. Fertil Steril 93:1875–1879.
   PubMed Web of Science ®Google Scholar
• Hammoud, A.O., Gibson, M., Peterson, C.M., Meikle, A.W. and Carrell, D.T. (2008) Impact of male obesity on infertility: a critical review of the current literature. Fertil Steril 90:897–904.
   PubMed Web of Science ®Google Scholar
• Hammoud, S.S., Purwar, J., Pflueger, C., Cairns, B.R. and Carrell, D.T. (2010b) Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility. Fertil Steril 94:1728–1733.
   PubMed Web of Science ®Google Scholar
• Hansen, C., Luben, T.J., Sacks, J.D., Olshan, A., Jeffay, S., Strader, L., (2010) The effect of ambient air pollution on sperm quality. Environ Health Perspect 118:203–209.
   PubMed Web of Science ®Google Scholar
• Hauser, R., Chen, Z., Pothier, L., Ryan, L. and Altshul, L. (2003) The relationship between human semen parameters and environmental exposure to polychlorinated biphenyls and p,p'-DDE. Environ Health Perspect 111:1505–1511.
   PubMed Web of Science ®Google Scholar
• Hauser, R., Meeker, J.D., Duty, S., Silva, M.J. and Calafat, A.M. (2006) Altered semen quality in relation to urinary concentrations of phthalate monoester and oxidative metabolites. Epidemiology 17:682–691.
   PubMed Web of Science ®Google Scholar
• Hofny, E.R., Ali, M.E., Abdel-Hafez, H.Z., Kamal Eel, D., Mohamed, E.E., Abd El-Azeem, H.G., (2010) Semen parameters and hormonal profile in obese fertile and infertile males. Fertil Steril 94:581–584.
   PubMed Web of Science ®Google Scholar
• Houshdaran, S., Cortessis, V.K., Siegmund, K., Yang, A., Laird, P.W. and Sokol, R.Z. (2007) Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm. PLoS One 2:e1289.
   PubMed Web of Science ®Google Scholar
• Jensen, T.K., Andersson, A.M., Jorgensen, N., Andersen, A.G., Carlsen, E., Petersen, J.H., (2004) Body mass index in relation to semen quality and reproductive hormones among 1,558 Danish men. Fertil Steril 82:863–870.
   PubMed Web of Science ®Google Scholar
• Jensen, T.K., Swan, S.H., Skakkebaek, N.E., Rasmussen, S. and Jorgensen, N. (2010) Caffeine intake and semen quality in a population of 2,554 young Danish men. Am J Epidemiol 171:883–891.
   PubMed Web of Science ®Google Scholar
• Jonsson, B.A., Richthoff, J., Rylander, L., Giwercman, A. and Hagmar, L. (2005) Urinary phthalate metabolites and biomarkers of reproductive function in young men. Epidemiology 16:487–493.
   PubMed Web of Science ®Google Scholar
• Jurewicz, J., Hanke, W., Radwan, M. and Bonde, J.P. (2009) Environmental factors and semen quality. Int J Occup Med Environ Health 22:305–329.
   PubMed Web of Science ®Google Scholar
• Kobayashi, H., Sato, A., Otsu, E., Hiura, H., Tomatsu, C., Utsunomiya, T., (2007) Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients. Hum Mol Genet 16:2542–2551.
   PubMed Web of Science ®Google Scholar
• Krawetz, S.A. (2005) Paternal contribution: new insights and future challenges. Nat Rev Genet 6:633–642.
   PubMed Web of Science ®Google Scholar
• Krawetz, S.A., Kruger, A., Lalancette, C., Tagett, R., Anton, E., Draghici, S., (2011) A survey of small RNAs in human sperm. Hum Reprod 26:3401–3412.
   PubMedGoogle Scholar
• Kruger, T.F., Menkveld, R., Stander, F.S., Lombard, C.J., Van der Merwe, J.P., van Zyl, J.A., (1986) Sperm morphologic features as a prognostic factor in in vitro fertilization. Fertil Steril 46:1118–1123.
   PubMed Web of Science ®Google Scholar
• Lalancette, C., Platts, A.E., Johnson, G.D., Emery, B.R., Carrell, D.T. and Krawetz, S.A. (2009) Identification of human sperm transcripts as candidate markers of male fertility. J Mol Med 87:735–748.
   PubMed Web of Science ®Google Scholar
• Lefievre, L., Bedu-Addo, K., Conner, S.J., Machado-Oliveira, G.S., Chen, Y., Kirkman-Brown, J.C., (2007) Counting sperm does not add up any more: time for a new equation? Reproduction 133:675–684.
   PubMed Web of Science ®Google Scholar
• Lewis, S.E. (2007) Is sperm evaluation useful in predicting human fertility? Reproduction 134:31–40.
   PubMed Web of Science ®Google Scholar
• Lewis, S.E. and Aitken, R.J. (2005) DNA damage to spermatozoa has impacts on fertilization and pregnancy. Cell Tissue Res 322:33–41.
   PubMed Web of Science ®Google Scholar
• Li, Y., Lin, H., Li, Y. and Cao, J. (2011) Association between socio-psycho-behavioral factors and male semen quality: systematic review and meta-analyses. Fertil Steril 95:116–123.
   PubMed Web of Science ®Google Scholar
• Linschooten, J.O., Van Schooten, F.J., Baumgartner, A., Cemeli, E., van Delft, J., Anderson, D., (2009) Use of spermatozoal mRNA profiles to study gene-environment interactions in human germ cells. Mutat Res 667:70–76.
   PubMed Web of Science ®Google Scholar
• Loft, S., Kold-Jensen, T., Hjollund, N.H., Giwercman, A., Gyllemborg, J., Ernst, E., (2003) Oxidative DNA damage in human sperm influences time to pregnancy. Hum Reprod 18:1265–1272.
   PubMed Web of Science ®Google Scholar
• Ludwig, M. and Frick, J. (1987) Spermaotology. An Atlas and Manual. Springer Verlag, Berlin, DE.
   Google Scholar
• Mallidis, C., Howard, E.J. and Baker, H.W. (1991) Variation of semen quality in normal men. Int J Androl 14:99–107.
   PubMedGoogle Scholar
• Mardis, E.R. (2008) Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 9:387–402.
   PubMed Web of Science ®Google Scholar
• Marques, C.J., Carvalho, F., Sousa, M. and Barros, A. (2004) Genomic imprinting in disruptive spermatogenesis. Lancet 363:1700–1702.
   PubMed Web of Science ®Google Scholar
• Marques, C.J., Costa, P., Vaz, B., Carvalho, F., Fernandes, S., Barros, A., (2008a) Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia. Mol Hum Reprod 14:67–74.
   PubMed Web of Science ®Google Scholar
• Marques, C.J., Costa, P., Vaz, B., Carvalho, F., Fernandes, S., Barros, A., (2008b) Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia. Mol Hum Reprod 14:67–74.
   PubMed Web of Science ®Google Scholar
• Metzker, M.L. (2010) Sequencing technologies - the next generation. Nat Rev Genet 11:31–46.
   PubMed Web of Science ®Google Scholar
• Nallella, K.P., Sharma, R.K., Aziz, N. and Agarwal, A. (2006) Significance of sperm characteristics in the evaluation of male infertility. Fertil Steril 85:629–634.
   PubMed Web of Science ®Google Scholar
• Navarro-Costa, P., Nogueira, P., Carvalho, M., Leal, F., Cordeiro, I., Calhaz-Jorge, C., (2010) Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm. Hum Reprod 25:2647–2654.
   PubMed Web of Science ®Google Scholar
• Ostermeier, G.C., Dix, D.J., Miller, D., Khatri, P. and Krawetz, S.A. (2002) Spermatozoal RNA profiles of normal fertile men. Lancet 360:772–777.
   PubMed Web of Science ®Google Scholar
• Ostermeier, G.C., Goodrich, R.J., Diamond, M.P., Dix, D.J. and Krawetz, S.A. (2005a) Toward using stable spermatozoal RNAs for prognostic assessment of male factor fertility. Fertil Steril 83:1687–1694.
   PubMed Web of Science ®Google Scholar
• Ostermeier, G.C., Goodrich, R.J., Moldenhauer, J.S., Diamond, M.P. and Krawetz, S.A. (2005b) A suite of novel human spermatozoal RNAs. J Androl 26:70–74.
   PubMedGoogle Scholar
• Ostermeier, G.C. and Krawetz, R. (2006) Spermatozoal RNAs as surrogate markers of paternal exposure. In CRC Press Ltd. Surrogate Tissue Analysis: Genomic, Proteomic and Metabolic Profiling of Surrogate Tisues. ed. Burcynski, M.E. and Rocket, J.C. Taylor and Francis, FL, USA, pp. 77–90.
   Google Scholar
• Ostermeier, G.C., Miller, D., Huntriss, J.D., Diamond, M.P. and Krawetz, S.A. (2004) Reproductive biology: delivering spermatozoan RNA to the oocyte. Nature 429:154.
   PubMed Web of Science ®Google Scholar
• Pacheco, S.E., Houseman, E.A., Christensen, B.C., Marsit, C.J., Kelsey, K.T., Sigman, M., (2011) Integrative DNA methylation and gene expression analyses identify DNA packaging and epigenetic regulatory genes associated with low motility sperm. PLoS One 6:pe20280.
   Web of Science ®Google Scholar
• Pathak, S., Kedia-Mokashi, N., Saxena, M., D'Souza, R., Maitra, A., Parte, P., (2009) Effect of tamoxifen treatment on global and insulin-like growth factor 2-H19 locus-specific DNA methylation in rat spermatozoa and its association with embryo loss. Fertil Steril 91:2253–2263.
   PubMed Web of Science ®Google Scholar
• Platts, A.E., Dix, D.J., Chemes, H.E., Thompson, K.E., Goodrich, R., Rockett, J.C., (2007) Success and failure in human spermatogenesis as revealed by teratozoospermic RNAs. Hum Mol Genet 16:763–773.
   PubMed Web of Science ®Google Scholar
• Poplinski, A., Tuttelmann, F., Kanber, D., Horsthemke, B. and Gromoll, J. (2010) Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2//H19 ICR1. Int J Androl 33:642–649.
   PubMed Web of Science ®Google Scholar
• Robbins, W.A., Elashoff, D.A., Xun, L., Jia, J., Li, N., Wu, G., (2005) Effect of lifestyle exposures on sperm aneuploidy. Cytogenet Genome Res 111:371–377.
   PubMed Web of Science ®Google Scholar
• Roy, A., Lin, Y.N. and Matzuk, M.M. (2007) Genetics of idiopathic male infertility: the power of a cross-species approach. Humana Press Inc., Totowa, NJ, USA.
   Google Scholar
• Rubes, J., Selevan, S.G., Evenson, D.P., Zudova, D., Vozdova, M., Zudova, Z., (2005) Episodic air pollution is associated with increased DNA fragmentation in human sperm without other changes in semen quality. Hum Reprod 20:2776–2783.
   PubMed Web of Science ®Google Scholar
• Rubio, C., Simon, C., Blanco, J., Vidal, F., Minguez, Y., Egozcue, J., (1999) Implications of sperm chromosome abnormalities in recurrent miscarriage. J Assist Reprod Genet 16:253–258.
   PubMed Web of Science ®Google Scholar
• Salas-Huetos, A., Blanco, J., Vidal, F. and Anton, E. (2011) Optimization of a method to isolate and purify human sperm transcriptome including miRNAs. XXI Testis Workshop, 36th Annual Meeting of The American Society of Andrology, Toronto, Canada.
   Google Scholar
• Sarrate, Z. and Anton, E. (2009) Fluorescence in situ hybridization (FISH) protocol in human sperm. J Vis Exp 1:1405.
   Google Scholar
• Sarrate, Z., Vidal, F. and Blanco, J. (2010) Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertil Steril 93:1892–1902.
   PubMed Web of Science ®Google Scholar
• Sato, A., Hiura, H., Okae, H., Miyauchi, N., Abe, Y., Utsunomiya, T., (2011) Assessing loss of imprint methylation in sperm from subfertile men using novel methylation polymerase chain reaction Luminex analysis. Fertil Steril 95:129–134.
   PubMed Web of Science ®Google Scholar
• Schena, M., Heller, R.A., Theriault, T.P., Konrad, K., Lachenmeier, E. and Davis, R.W. (1998) Microarrays: biotechnology's discovery platform for functional genomics. Trends Biotechnol 16:301–306.
   PubMed Web of Science ®Google Scholar
• Schmid, C.W. (1998) Does SINE evolution preclude Alu function? Nucleic Acids Res 26:4541–4550.
   PubMed Web of Science ®Google Scholar
• Selevan, S.G., Borkovec, L., Slott, V.L., Zudova, Z., Rubes, J., Evenson, D.P., (2000) Semen quality and reproductive health of young Czech men exposed to seasonal air pollution. Environ Health Perspect 108:887–894.
   PubMed Web of Science ®Google Scholar
• Sharma, R.K., Sabanegh, E., Mahfouz, R., Gupta, S., Thiyagarajan, A. and Agarwal, A. (2010) TUNEL as a test for sperm DNA damage in the evaluation of male infertility. Urology 76:1380–1386.
   PubMed Web of Science ®Google Scholar
• Skakkebaek, N.E., Giwercman, A. and de Kretser, D. (1994) Pathogenesis and management of male infertility. Lancet 343:1473–1479.
   PubMed Web of Science ®Google Scholar
• Soares, S.R., Templado, C., Blanco, J., Egozcue, J. and Vidal, F. (2001) Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction. Hum Genet 108:134–139.
   PubMed Web of Science ®Google Scholar
• Sokol, R.Z., Kraft, P., Fowler, I.M., Mamet, R., Kim, E. and Berhane, K.T. (2006) Exposure to environmental ozone alters semen quality. Environ Health Perspect 114:360–365.
   PubMed Web of Science ®Google Scholar
• Somers, C.M. (2011) Ambient air pollution exposure and damage to male gametes: human studies and in situ ‘sentinel’ animal experiments. Syst Biol Reprod Med 57:63–71.
   PubMed Web of Science ®Google Scholar
• Spano, M., Toft, G., Hagmar, L., Eleuteri, P., Rescia, M., Rignell-Hydbom, A., (2005) Exposure to PCB and p, p'-DDE in European and Inuit populations: impact on human sperm chromatin integrity. Human Reprod 20:3488–3499.
   PubMed Web of Science ®Google Scholar
• Sultan, M., Schulz, M.H., Richard, H., Magen, A., Klingenhoff, A., Scherf, M., (2008) A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome. Science 321:956–960.
   PubMed Web of Science ®Google Scholar
• Swan, S.H., Elkin, E.P. and Fenster, L. (2000) The question of declining sperm density revisited: an analysis of 101 studies published 1934-1996. Environ Health Perspect 108:961–966.
   PubMed Web of Science ®Google Scholar
• Tejada, R.I., Mitchell, J.C., Norman, A., Marik, J.J. and Friedman, S. (1984) A test for the practical evaluation of male fertility by acridine orange (AO) fluorescence. Fertil Steril 42:87–91.
   PubMed Web of Science ®Google Scholar
• Wirth, J.J., Rossano, M.G., Potter, R., Puscheck, E., Daly, D.C., Paneth, N., (2008) A pilot study associating urinary concentrations of phthalate metabolites and semen quality. Syst Biol Reprod Med 54:143–154.
   PubMed Web of Science ®Google Scholar
• Wold, B. and Myers, R.M. (2008) Sequence census methods for functional genomics. Nat Methods 5:19–21.
   PubMed Web of Science ®Google Scholar
• World Health Organization. (1999) WHO Laboratory Manual for the Examination of Human Semen and Semen-cervical Mucus Interaction. Cambridge University Press, UK.
   Google Scholar
• World Health Organization. (2010) World Health Organization Laboratory Manual for the Examination and Processing of Human Semen. Cambridge University Press, UK.
   Google Scholar
• Wu, W., Shen, O., Qin, Y., Niu, X., Lu, C., Xia, Y., (2010) Idiopathic male infertility is strongly associated with aberrant promoter methylation of methylenetetrahydrofolate reductase (MTHFR). PLoS One 5:pe13884.
   Web of Science ®Google Scholar
• Zini, A., Meriano, J., Kader, K., Jarvi, K., Laskin, C.A. and Cadesky, K. (2005) Potential adverse effect of sperm DNA damage on embryo quality after ICSI. Human Reprod 20:3476–3480.
   PubMed Web of Science ®Google Scholar