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The genetic basis of male infertility

Published online by Cambridge University Press:  03 June 2009

Ann C Chandley
Ann C Chandley*
Affiliation:
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
*
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH42XU, Scotland, UK.
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Extract

Amongst men who attend fertility problems clinics, just over 10% are diagnosed to be oligospermic (< 5 × 106 sperm per ml) or azoospermic, with no known aetiological explanation. Amongst the many possible causes of impaired sperm production there is a genetic component, a pointer to the possible location of some of the responsible genes being found in 1976 when Tiepolo and Zuffardi discovered six azoospermic individuals with a deleted Y chromosome. In each individual, the long arm of the Y chromosome had lost its distal fluorescent segment as well as part of the nonfluorescent euchromatin lying proximal to it (Figure 1). They hypothesized that factors important in spermatogenesis might lie at the interface between fluorescent and nonfluorescent material. The locus, AZFor ‘azoospermia factor’, was subsequently mapped, using collections of deleted Y chromosomes, to interval six of the long arm and it lies within cytological band Yq11.23 (Figure 2).

Type
Articles
Information
Reproductive Medicine Review , Volume 4 , Issue 1 , March 1995 , pp. 1 - 8
Copyright
Copyright © Cambridge University Press 1995

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References

1Comhaire, FH, de Kretser, D, Farley, TMM, Rowe, PJ. Towards more objectivity in diagnosis and management of male infertility. In: Skakkebaek NE ed. WHO taskforce on the diagnosis and treatment of infertility. Int J Androl 1987; 7 (suppl): 1–53.Google Scholar
2Tiepolo, L, Zuffardi, O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34: 119–24.CrossRefGoogle ScholarPubMed
3Andersson, M, Page, DC, Pettay, D et al. Y autosome translocations and mosaicism in the etiology of 45, X maleness: assignment of fertility factor to distai Yq11. Hum Genet 1988; 79: 2–7.CrossRefGoogle ScholarPubMed
4Vergnaud, G, Page, DC, Simmler, M-C et al. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 1986; 38: 109–24.Google ScholarPubMed
5McLaren, A. What makes a man a man? Nature 1990; 346: 216–17.CrossRefGoogle Scholar
6Ellis, N. The human Y chromosome. Dev Biol 1991; 2: 231–40.Google Scholar
7Ma, K, Sharkey, A, Kirsch, S et al. Towards the molecular localization of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1992; 1: 29–33.CrossRefGoogle ScholarPubMed
8Ma, K, Inglis, J, Sharkey, A et al. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75: 1287–95.CrossRefGoogle Scholar
9Ferguson-Smith, MA, Lennox, B, Mack, WS, Stewart, JSS. Klinefelter's syndrome: frequency and testicular morphology in relation to nuclear sex. Lancet 1957; ii: 167–69.CrossRefGoogle Scholar
10Chandley, AC. The chromosomal basis of human infertility. Br Med Bull 1979; 35: 181–86.CrossRefGoogle ScholarPubMed
11Hultén, MA, Pearson, PL. Fluorescent evidence for spermatocytes with two Y chromosomes in an XYY male. Ann Hum Genet 1971; 34: 273–76.CrossRefGoogle Scholar
12Speed, RM, Faed, MJW, Batstone, PJ, Baxby, K, Barnetson, W. Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man. Hum Genet 1991; 87: 416–20.CrossRefGoogle Scholar
13Quack, B, Speed, RM, Luciani, JM, Noel, B, Guichaoua, M, Chandley, AC. Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet 1988; 48: 43–47.CrossRefGoogle ScholarPubMed
14Faed, MJ, Lamont, MA, Baxby, K. Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. J Med Genet 1982; 19: 49–56.CrossRefGoogle ScholarPubMed
15Burgoyne, PS, Baker, TG. Meiotic pairing and gametogenic failure. In: Evans, CW, Dickinson, HG eds. Controlling events in meiosis. Cambridge: The Company of Biologists, 1984: 349–62.Google Scholar
16Laurie, DA, Palmer, RW, Hultén, MA. Studies on chiasma frequency and distribution in two fertile men carrying reciprocal translocations; one with a t(9;10) karyotype and one with a t(Y;10) karyotype. Hum Genet 1984; 68: 235–47.CrossRefGoogle Scholar
17Lifschytz, E, Lindsley, DL. The role of X-chromosome inactivation during spermatogenesis. Proc Natl Acad Sci USA 1972; 69: 182–86.CrossRefGoogle ScholarPubMed
18Monesi, V. Chromosome activities during meiosis and spermatogenesis. J Reprod Fertil 1971; 13 (suppl 13): 1–14.Google Scholar
19Salido, EC, Yen, PH, Mohandas, TK, Shapiro, L. Expression of the X-inactivation-associated gene XIST during spermatogenesis. Nature Genet 1992; 2: 196–99.CrossRefGoogle ScholarPubMed
20Lyon, MF, Meredith, R. Autosomal translocations causing male sterility and viable aneuploidy in the mouse. Cytogenetics 1966; 5: 335–54.CrossRefGoogle ScholarPubMed
21Searle, AG. Nature and consequences of induced chromosome damage in mammals. Genetics 1974; 78: 173–86.CrossRefGoogle ScholarPubMed
22Chandley, AC. The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population. Ann Genet 1981; 24: 5–11.Google ScholarPubMed
23Gabriel-Robez, O, Ratomponirina, C, Dutrillaux, B, Carré-Pigeon, F, Rumpler, Y. Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46, XY, t (19;22) and 46, XY, t(17;21). Cytogenetics 1986; 43: 154–60.CrossRefGoogle Scholar
24Chandley, AC. Meiotic studies and fertility in human translocation carriers. In: Daniel, A ed. Cytogenetics of mammalian autosomal rearrangements. Progress and topics in Cytogenetics, Volume 8. New York: Liss, 1988: 361–82.Google Scholar
25Chandley, AC. Univalent sex chromosomes and meiotic arrest in man. Heredity 1973; 30: 262.Google Scholar
26Speed, RM, Chandley, AC. Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes. Hum Genet 1990; 84: 547–54.CrossRefGoogle ScholarPubMed
27Burgoyne, PS. The role of the mammalian Y chromosome in spermatogenesis. Development 1987; 101 (suppl): 133–42.CrossRefGoogle ScholarPubMed
28Searle, AG, Beechey, CV, Evans, EP. Meiotic effects in chromosomally derived male sterility of mice. Ann Anim Bioch Biophys 1978; 18: 391–98.CrossRefGoogle Scholar
29Rosenmann, A, Wahrman, J, Richler, C et al. Under what circumstances is the human XY bivalent tangled? A note on chromosomally-derived sterility. Cytogenet Cell Genet 1987; 45: 58–61.CrossRefGoogle ScholarPubMed
30Arnemann, J, Jakubiczka, S, Thuring, S, Schmidtke, J. Cloning and sequence analysis of human Y chromosome-derived testicular cDNA, TSPY. Genomics 1991; 11: 108–14.CrossRefGoogle ScholarPubMed
31Zhang, JS, Yang-Feng, TL, Muller, U et al. Molecular isolation and characterization of an expressed gene from the human Y chromosome. Hum Mol Genet 1992; 1: 717–26.CrossRefGoogle ScholarPubMed
32Schempp, W, Binkele, A, Arnemann, J et al. Comparative mapping of YRRM and TSPY sequences in man and hominoid apes. Chromosome Res 1995 (in press).CrossRefGoogle Scholar