Hostname: page-component-77c89778f8-sh8wx Total loading time: 0 Render date: 2024-07-17T11:42:55.977Z Has data issue: false hasContentIssue false

Y Chromosome deletions and male infertility

Published online by Cambridge University Press:  03 June 2009

D M de Kretser*
Affiliation:
Institute of Reproduction and Development, Monash University, Melbourne, Australia
C Mallidis
Affiliation:
Institute of Reproduction and Development, Monash University, Melbourne, Australia
K Ma
Affiliation:
Division of Endocrinology, Metabolism and Molecular Medicine, Charles Drew University of Medicine and Science, Los Angeles, USA
S Bhasin
Affiliation:
Division of Endocrinology, Metabolism and Molecular Medicine, Charles Drew University of Medicine and Science, Los Angeles, USA
*
Institute of Reproduction and Development, Monash University, Monash Medical Centre, 246 Clayton Rd, Clayton, Victoria 3168, Australia.

Extract

Approximately one in ten couples experience infertility, and in about 40% of these infertile unions there are abnormalities in the fertility of the male partner. The clinical management of these infertile men is less than satisfactory because in 40% of such patients the cause of the abnormalities of sperm production and quality is unknown. The possibility that genetic disorders may account for a proportion of these disturbances of sperm production has been raised. It is well recognized that chromosomal abnormalities such as Klinefelter's syndrome cause azoospermia and that gene defects are the basis of testicular feminization, Kallman's syndrome and Reifenstein's syndrome. With the explosion in our knowledge of the human genome, the possibility exists that other genetic disorders may form the basis of other sperma-togenic abnormalities. The past decade has witnessed the accumulation of evidence linking abnormalities of the Y chromosome with disturbances in sperm production and these observations form the basis of this review.

Type
Research Article
Copyright
Copyright © Cambridge University Press 1997

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1Bhasin, S, de Kretser, DM, Baker, HWG. Pathophysiology and natural history of male infertility. J Clin Endocr Metab 1994; 79: 1525–9.Google ScholarPubMed
2Graves, JAM. The origin and function of the mammalian Y chromosome and Y-borne genes an evolving understanding. Bio Essays 1995; 17: 311–21.Google ScholarPubMed
3Mikelsaar, A, Tuur, SJ, Kaosaar, ME. Human karyotype polymorphism. I. Routine and fluorescence microscopic investigation of chromosomes in a normal adult population. Humangenetik 1973; 20: 89101.CrossRefGoogle Scholar
4Sinclair, AH, Palmer, MS, Berta, P, Ellis, NA, Goodfellow, PN. Molecular genetics of the human and mouse Y-chromosome. In: Desjardins, C, Ewing, LL, eds. Cellular and molecular biology of the testis. New York: Oxford University Press, 1993: 4357.CrossRefGoogle Scholar
5Cassiman, J-J. Genetic mechanisms of normal and abnormal sexual development in males. In: Comhaire, FH, ed. Male infertility. London: Chapman & Hall, 1996: 1128.Google Scholar
6Vogt, P, Edelmann, A, Hirschmann, P, Köhler, MR. The azoospermia factor (AZF) of the human Y chromosome in Yq 11: function and analysis in spermatogenesis. Reprod Fertil Dev 1995; 7: 685–93.CrossRefGoogle Scholar
7Vollrath, D, Foote, S, Hilton, A et al. The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science 1992; 258: 52–9.CrossRefGoogle ScholarPubMed
8Vergnaud, G, Page, DC, Simmler, M et al. A deletion map of the human Y chromosome based on DNA hybridization. Am J Med Genet 1986; 38: 109–24.Google ScholarPubMed
9Weissenbach, J. Mapping the Y chromosome. Philos Trans R Soc Land B Biol Sci 1988; 322: 125–31.Google ScholarPubMed
10Daiger, SP, Chakraborty, R. Mapping the human Y chromosome. In: Sandberg, A, ed. The Y chromosome. Part A: basic characteristics of the Y chromosome. New York: Alan R. Liss, 1985: 93124.Google Scholar
11Chandley, AC, Ambros, P, McBeath, S, Hargreave, TB, Kilanowski, F, Spowart, G. Short arm dicentric Y chromosome with associated statural defects in a sterile man. Hum Genet 1986; 73: 350–3.CrossRefGoogle Scholar
12Benn, PA, Perle, MA. Chromosome staining and banding techniques. In: Rooney, DE, Czepulkowski, BH, eds. Human cytogenetics: a practical approach, Volume 1. New York: Oxford University Press, 1992: 91119.Google Scholar
13Gibas, Z. Staining and banding characteristics of the human Y chromosome. In: Sandberg, A ed. The Y chromosme. Part A: basic characteristics of the Y chromosome. New York: Alan R. Liss, 1985: 289302.Google Scholar
14Verma, RS. Cytological map of the human Y chromosome. Hum Hered 1986; 36: 62–4.CrossRefGoogle ScholarPubMed
15Fitch, N, Richer, CL, Pinsky, L, Kahn, A. Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities. Am J Med Genet 1985; 20: 3142.CrossRefGoogle Scholar
16Vogt, P, Chandley, AC, Hargreave, TB, Keil, R, Ma, K, Sharkey, A. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet 1992; 89: 491–6.CrossRefGoogle Scholar
17Olson, M, Hood, L, Cantor, C, Botstein, D. A common language for physical mapping of the human genome. Science 1989; 245: 1434–5.CrossRefGoogle ScholarPubMed
18Elliot, DJ, Ma, K, Kerr, SM et al. An RBM homologue maps to the mouse Y chromosome and is expressed in germ cells. Hum Mol Genet 1996; 5: 869–74.CrossRefGoogle Scholar
19Goodfellow, PN. Mapping the Y chromosome. Development Suppl 1987; 101: 3940.Google Scholar
20Cooke, H. Repeated sequences specific to human males. Nature 1976; 262: 182.CrossRefGoogle ScholarPubMed
21Tiepolo, 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
22Hartung, M, Devictor, M, Codaccioni, JL, Stahl, A. Yq deletion and failure of spermatogenesis. Ann Genet 1988; 31: 21–6.Google ScholarPubMed
23Johnson, MD, Tho, SP, Behzadian, A, McDonough, PG. Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. Am J Obstet Gynecol 1989; 161: 1732–7.CrossRefGoogle ScholarPubMed
24Reijo, R, Lee, T, Salo, P et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet 1995; 10: 383–93.CrossRefGoogle ScholarPubMed
25Buhler, EM. A synopsis of the human Y chromosome. Hum Genet 1980; 55: 145.CrossRefGoogle ScholarPubMed
26Micic, M, Micic, S, Babic, M, Diklic, V. Phenotype of two males with abnormal Y chromosomes. Clin Genet 1990; 37: 321–6.CrossRefGoogle ScholarPubMed
27Andersson, M, Page, DC, Pettay, D et al. Y autosome translocations and mosaicism in the aetiology of 45, X maleness: assignment of fertility factor to distal Yq11. Hum Genet 1988; 79: 27.CrossRefGoogle ScholarPubMed
28Chandley, AC, Ambros, P, McBeath, S et al. Short arm dicentric Y chromosome with associated statural defects in a sterile man. Hum Genet 1986; 73: 350–3.CrossRefGoogle Scholar
29Affara, NA, Florentin, L, Morrison, N et al. Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences. Nucleic Acids Res 1986; 14: 5353–73.CrossRefGoogle ScholarPubMed
30Ferguson-Smith, MA, Affara, NA, Magenis, RI. Ordering of Y-specific sequences by deletion mapping and analysis of X-Y interchange males and females. Development 1987; 101: 4150.CrossRefGoogle ScholarPubMed
31Oosthuizen, C, Herbert, J, Vermaak, L et al. Deletion mapping of 39 random isolated Y-chromosome DNA fragments. Hum Genet 1990; 85: 205–10.CrossRefGoogle ScholarPubMed
32Bardoni, B, Zuffardi, O, Guioli, S et al. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; 11: 443–51.CrossRefGoogle Scholar
33Donion, TA, Müller, U. Deletion mapping of DNA segments from the Y chromosome long arm and their analysis in an XX male. Genomics 1991; 10: 51–6.Google Scholar
34De Cheng, J, Gasparini, R, Muller, U. Molecular analysis of aberrations of Xp and Yq. Hum Genet 1992; 88: 379–82.CrossRefGoogle Scholar
35O'Reilly, AJ, Affara, NA, Simpson, E, Chandler, P, Goulmy, E, Ferguson-Smith, MA. A molecular deletion map of the Y chromosome long arm defining X and autosomal homologous regions and the localisation of the HYA locus to the proximal region of the Yq euchromatin. Hum Mol Genet 1992; 1: 379–85.CrossRefGoogle Scholar
36Ma, K, Inglis, JD, Sharkey, A et al. Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75: 1287–95.CrossRefGoogle ScholarPubMed
37Najmabadi, H, Huang, V, Yen, P et al. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligospermia detected using sequence-tagged site-based mapping strategy. J Clin Endocr Metab 1996; 81: 1347–52.Google ScholarPubMed
38Vogt, PH, Edelmann, A, Kirsch, S et al. Human Y chromosome azoospermia factors AZF mapped to different subregions in Yq11. Hum Mol Genet 1996; 5: 933–43.CrossRefGoogle ScholarPubMed
39Qureshi, SJ, Ross, AR, Ma, K, Cooke, et al. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically determined spermatogenic failure in men. Mol Human Reprod 1996; 2: 775–9.CrossRefGoogle ScholarPubMed
40Pryor, J, Kent-First, MG, Muallein, A et al. Prospective analysis of Y chromosome microdeletions in 200 consecutive male infertility patients. N Engl J Med 1997; 336: 534–9.CrossRefGoogle Scholar
41Reijo, R, Alagappan, RK, Patrizio, P et al. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996; 347: 1290–3.CrossRefGoogle ScholarPubMed
42Najmabadi, H, Chai, NN, Kapali, A et al. Genomic structure of a Y-specific RNA binding motif-containing gene: a putative candidate for a subset of male infertility. J Clin Endocrinol Metab 1996; 81: 2159–64.Google ScholarPubMed
43Dreyfuss, G, Matunis, MH, Pinol-Roma, S, Burd, CG. hnRNP proteins and the biogenesis of mRNA. Annu Rev Biochem 1993; 62: 289321.CrossRefGoogle ScholarPubMed
44Görlach, M, Burd, CG, Portman, DS, Dreyfuss, G. The hnRNP proteins. Mol Biol Rep 1993; 18: 73–8.CrossRefGoogle ScholarPubMed
45Kim, Y-J, Baker, BS. Isolation of RRM-type RNA-binding protein genes and the analysis of their relatedness by using a numerical approach. Mol Cell Biol 1993; 13: 174–83.Google ScholarPubMed
46Kenan, DJ, Query, CC, Keene, JD. RNA recognition: towards identifying determinants of specificity. Trends Biochem Sci 1991; 16: 214–20.CrossRefGoogle ScholarPubMed
47Mattaj, IW. A binding consensus: RNA-protein interactions in splicing, snRNPs, and sex. Cell 1989; 57: 13.CrossRefGoogle ScholarPubMed
48Dreyfuss, G, Swanson, MS, Pinol-Roma, S. Heterogeneous nuclear ribonucleoprotein particles and the pathway of mRNA formation. Trends Biochem 1988; 13: 8691.CrossRefGoogle ScholarPubMed
49Piñol-Roma, S, Choi, YD, Matunis, MJ, Dreyfuss, G. Immunopurification of heterogeneous nuclear ribonucleoprotein particles reveals an assortment of RNA-binding proteins. Genes Dev 1988; 2: 215–27.CrossRefGoogle ScholarPubMed
50Piñol-Roma, S, Dreyfuss, G. HnRNP proteins: localization and transport between the nucleus and the cytoplasm. Trends Cell Biol 1993; 3: 151–5.CrossRefGoogle ScholarPubMed
51Piñol-Roma, S, Dreyfuss, G. Shuttling of pre-mRNA binding proteins between nucleus and cytoplasm. Nature 1992; 355: 730–2.CrossRefGoogle ScholarPubMed
52Soulard, M, Valle, VD, Siomi, MC et al. hnRNP G: sequence and characterization of a glycosylated RNA-binding protein. Nucleic Acids Res 1993; 21: 4210–7.CrossRefGoogle ScholarPubMed
53Kiledjian, M, Dreyfuss, G. Primary structure and the binding activity of the hnRNP U protein: binding RNA through RGG box. EMBO J 1992; 11: 2655–64.CrossRefGoogle ScholarPubMed
54Delbridge, ML, Harry, JL, Toder, R et al. A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nature Genet 1997; 15: 131–6.CrossRefGoogle ScholarPubMed
55Eberhart, CG, Maines, JZ, Wasserman, SA. Meiotic cell requirement for a fly homologue of human Deleted in Azoospermia. Nature 1996; 381: 783–5.CrossRefGoogle ScholarPubMed
56Reijo, R, Seligman, J, Dinulos, MB et al. Mouse autosomal homolog of DAZ, a candidate male Sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 1996; 35: 346–52.CrossRefGoogle Scholar
57Yen, PH, Chair, NN, Salido, EC. The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum Mol Genet 1996; 5: 2013–7.CrossRefGoogle Scholar
58Saxena, R, Brown, LG, Hawkins, T et al. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet 1996; 14: 292–9.CrossRefGoogle ScholarPubMed
59Ma, K, Sharkey, A, Kirsch, S et al. Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Molec Genet 1992; 1: 2933.CrossRefGoogle ScholarPubMed
60Vereb, M, Agulnik, AI, Houston, JT, Lipschultz, LI, Lamb, DJ, Bishop, CE. Absence of DAZ gene mutations in cases of non-obstructed azoospermia. Mol Human Reprod 1997; 3: 55–9.CrossRefGoogle ScholarPubMed
61Kent-First, MG, Kol, S, Muallem, A et al. The incidence and possible relevance of Y-linked microdeletions in babies bom after intracytoplasmic sperm injection and then infertile fathers. Mol Human Reprod 1996; 2: 943–50.CrossRefGoogle Scholar