Abstract
Recently, several components of the mammalian meiotic recombination pathway have been identified and new immunofluorescence approaches to the analysis of human meiosis have been developed. This has made it possible to directly examine the dynamics of chromosome behavior in meiosis I spermatocytes and address previously intractable questions, such as: How do chromosomes pair and synapse with one another? How does recombination occur? What is the relationship—if any—between abnormalities in meiosis and cases of unexplained male infertility? In this chapter, we discuss results from immunocytogenetic studies of human males, summarizing how they have contributed to our understanding of both normal and abnormal spermatogenesis.
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References
Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 1959;183:302–303.
Chandley AC. The chromosomal basis of human infertility. Br Med Bull, 35, 181–186.
Cooke HJ. Y chromosome and male infertility. Rev Reprod 1999;4:5–10.
Fox MS, Reijo Pera RA. Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair. Mol Cell Endocrinol 2001;184:41–49.
Brown PW, Judis L, Chan ER, et al. Meiotic synapsis proceeds from a limited number of subtelomeric sites in the human male. Am J Hum Genet 2005;77:556–566.
Gonsalves J, Sun F, Schlegel PN, et al. Defective recombination in infertile men. Hum Mol Genet 2004;13:2875–2883.
Lynn A, Koehle KE, Judis L, et al. Covariation of synaptonemal complex length and mammalian meiotic exchange rates. Science 2002;296:2222–2225.
Sun F, Trpkov K, Rademaker A, Ko E, Martin RH. Variation in meiotic recombination frequencies among human males. Hum Genet 2005;116:172–178.
Dernburg AF, Sedat JW, Hawley RS. Direct evidence of a role for heterochromatin in meiotic chromosome segregation. Cell 1996;86:135–146.
Broman KW, Weber JL. Characterization of human crossover interference. Am J Hum Genet 2000;66:1911–1926.
Baker SM, Plug AW, Prolla TA, et al. Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Nat Genet 1996;13:336–342.
Lynn A, Ashley T, Hassold T. Variation in human meiotic recombination. Annu Rev Genomics Hum Genet 2004;5:317–349.
Barlow AL, Hulten MA. Crossing over analysis at pachytene in man. Eur J Hum Genet 1998;6:350–358.
Codina-Pascual M, Oliver-Bonet M, Navarro J, et al. Synapsis and meiotic recombination analyses: MLH1 focus in the XY pair as an indicator. Hum Reprod 2005;20:2133–2139.
Oliver-Bonet M, Benet J, Sun F, et al. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod 2005;20:683–688.
Sun F, Kozak G, Scott S, et al. Meiotic defects in a man with non-obstructive azoospermia: case report. Hum Reprod 2004;19:1770–1773.
Sun F, Trpkov K, Rademaker A, et al. The effect of cold storage on recombination frequencies in human male testicular cells. Cytogenet Genome Res 2004;106:39–42.
Tease C, Hulten MA. Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells. Cytogenet Genome Res 2004;107:208–215.
Topping D, Brown P, Judis L, et al. Synaptic defects at meiosis I and non-obstructive azoospermia. Hum Reprod, in press.
Hassold T, Sherman S, Hunt P. Counting cross-overs: characterizing meiotic recombination in mammals. Hum Mol Genet 2000;9:2409–2419.
Shi Q, Martin RH. Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors. Cytogenet Cell Genet 2000;90:219–226.
Hassold T, Judis L, Chan ER, Schwartz S, Sefte A, Lynn A. Cytological studies of meiotic recombination in human males. Cytogenet Genome Res 2004;107:249–255.
Sun F, Oliver-Bonet M, Liehr T, et al. Discontinuities and unsynapsed regions in meiotic chromosomes have a cis effect on meiotic recombination patterns in normal human males. Hum Mol Genet 2005;14:3013–3018.
Oliver-Bonet M, Turek PJ, Sun F, Ko E, Martin RH. Temporal progression of recombination in human males. Mol Hum Reprod 2005;11:517–522.
Sun F, Greene C, Turek PJ, Ko E, Rademaker A, Martin RH. Immunofluorescent synaptonemal complex analysis in azoospermic men. Cytogenet Genome Res 2005;111:366–370.
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Topping, D., Brown, P., Hassold, T. (2007). The Immunocytogenetics of Human Male Meiosis. In: Carrell, D.T. (eds) The Genetics of Male Infertility. Humana Press. https://doi.org/10.1007/978-1-59745-176-5_7
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DOI: https://doi.org/10.1007/978-1-59745-176-5_7
Publisher Name: Humana Press
Print ISBN: 978-1-58829-863-8
Online ISBN: 978-1-59745-176-5
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