The molecular genetics of male infertility

BioEssays

Volumn 19, Issue 9, 1997, Pages 801-809

  Elliott, David J ^a   Cooke, Howard J ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMALIA;

EID: 0031238870     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.950190910     Document Type: Review

References (73)

1. Spira, A. (1987). Epidemiology of Human reproduction. In Advances in Fertility and Sterility, pp. 91-92.
2. Hargreave, T.B. (1997). Human Infertility. In Male Infertility (ed. T. B. Hargreave), pp. 1-16. Springer Verlag.
3. Russell, L.D., Ettlin, R., Hikim, S.A. and Clegg, E. (1990) Histological and Histopathological Evaluation of the Testis. Cache River Press.
4. Burgoyne, P.S. and Mahadevaiah, S.K. (1993). Unpaired sex chromosomes and gametogenic failure. Chromosomes Today 11, 243-263.
5. Sxr [xy,tp(Y)1ct] mice using multicolor fluorescence in situ hybridization. Proc. Natl Acad. Sci. USA 91, 524-528.
6. Hale, D.W. (1994). Is X-Y recombination necessary for spermatocyte survival during mammalian spermatogenesis? Cytogenet. Cell Genet. 65, 278-282.
7. Rappold, G.A. (1993). The pseudoautosomal regions of the human sex-chromosomes. Hum. Genet. 92, 315-324.
8. Chandley, A.C. and Cooke, H.J. (1994). Human male-fertility - Y-linked genes and spermatogenesis. Hum. Mol. Genet. 3, 1449-1452.
9. Vergnaud, G. et al. (1986). A deletion map of the human Y-chromosome based on DNA hybridization. Am. J. Hum. Genet. 38, 109-124.
10. Volrath, D. et al. (1992). The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258, 52-59.
11. Lobaccaro, J.M., Lumbroso, S., Belon, C., Medlej, R., Berta, R. and Sultan, C. (1993). Genes of Y chromosome and Turner syndrome. Annales D'Endocrinologie 54, 323-329.
12. Chandley, A.C., Gosden, J.R., Hargreave, T.B., Spowart, G., Speed, R.M. and McBeath, S. (1989). Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). J. Med. Genet. 26, 145-153.
13. Reijo, R. et al. (1995). Diverse spermatogenic defects in humans caused by Y-chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet. 10, 383-393.
14. Qureshi, S.J. et al. (1996). Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically determined spermatogenic failure in men. Mol. Hum. Reprod. 2, 775-779.
15. Tiepolo, L. and Zuffardi, O. (1976). Localisation of factors controlling spermatogenesis in the non-fluorescent portion of the human Y chromosome long arm. Hum. Genet. 34, 119-124.
16. Andersson, M. et al. (1988). Y;autosome translocations and mosaicism in the aetiology of 45, X maleness: assignment of fertility factor to distal Yp11. Hum. Genet. 79, 2-7.
17. Ma, K. et al. (1992). 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. Mol. Genet. 1, 29-33.
18. Vogt, P., Chandley, A.C., Hargreave, T.B., Keil, R., Ma, K. and Sharkey, A. (1991). Towards the molecular localization of AZF, a male-fertility gene on the human Y-chromosome, by comparative mapping of microdeletions in the Y-chromosome of men with idiopathic infertility. Am. J. Hum. Genet. 49, 390.
19. Vogt, P., Chandley, A.C., Hargreave, T.B., Keil, R., Ma, K. and Sharkey, A. (1992). Microdeletions in interval 6 of the Y-chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum. Genet. 89, 491-496.
20. Reijo, R., Alagappan, R.K., Patrizio, P. and Page, D.C. (1996). Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y-chromosome. Lancet 347, 1290-1293.
21. Vogt, P.H. et al. (1996). Human Y-chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5 933-943.
22. Ma, K. et al. (1993). A Y-chromosome gene family with RNA-binding protein homology - candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75, 1287-1295.
23. Kenan, D.J., Query, C.C. and Keene, J.D. (1991). RNA recognition: towards identifying determinants of specificity. Trends Biochem. Sci. 16, 214-220.
24. Soulard M. et al. (1993). HnRNP G - sequence and characterization of a glycosylated RNA-binding protein. Nucleic Acids Res 21, 4210-4217.
25. Le Coniat, M., Soulard, M., Della Valle, V., Larsen, C.-J. and Berger, R. (1992). Localisation of the human gene encoding heterogeneous nuclear RNA ribonucleoprotein G (hnRNP-G) to chromosome 6p12. Hum. Genet. 88, 593-595.
26. Graves, J.A.M. (1995). The origin and function of the mammalian Y chromosome and Y-borne genes-an evolving understanding. BioEssays 17, 311-320.
27. Weighardt, F., Biamonti, G. and Riva, S. (1996). The roles of heterogeneous nuclear ribonucleoproteins (hnRNPs) in RNA metabolism. BioEssays 18, 747-756.
28. Saxena, R. et al. (1996). The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14, 292-298.
29. Yen, P.H., Chai, N.N. and Salido, E.C. (1996). The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum. Mol. Genet. 5, 2013-2019.
30. Shan, Z. et al. (1996). A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene Boule is autosomal and expressed only in the human male gonad. Hum. Mol. Genet. 5, 2005-2012.
31. Cooke, H.J., Lee, M., Kerr, S. and Ruggiu, M. (1996). A murine homolog of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum. Mol. Genet. 5, 513-516.
32. Reijo, R. et al. (1996). Mouse autosomal homolog of DAZ, a candidate male-sterility gene in humans, is expressed in male germ-cells before and after puberty. Genomics 35, 346-352.
33. Delbridge, M.L., Harry, J.L., Toder, R. and Graves, J.M. (1997). Only one human candidate spermatogenesis gene is conserved on the marsupial Y chromosome. Nature Genet. 15 131-136.
34. Burgoyne, P.S. (1996). Male-sterility - fruit(less)flies provide a clue. Nature 381, 740-741.
35. Eberhardt, C.G., Maines, J.Z. and Wasserman, S.A. (1996). Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia. Nature 381, 783-785.
36. Kamma, H., Portman, D.S. and Dreyfuss, G. (1995). Cell-type-specific expression of hnRNP proteins. Exp. Cell Res. 221, 187-196.
37. Caceres, J.F., Stamm, S., Helfman, D.M. and Krainer, A.R. (1994). Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors. Science 265, 1706-1709.
38. Yang, X.M., Bani, M.R., Lu, S.J., Rowan, S., Bendavid, Y. and Chabot, B. (1994). The A1 and A1(b) proteins of heterogeneous nuclear ribonucleoparticles modulate 5′ splice-site selection in vivo. Proc. Natl Acad. Sci. USA 91, 6924-6928.
39. Menke, D.B., Mutter, G.L. and Page, D.C. (1997). Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. Am. J. Hum. Genet. 60, 237-241.
40. Elliott, D.J. et al. (1996). An RBM homolog maps to the mouse Y-chromosome and is expressed in germ-cells. Hum. Mol. Genet. 5, 869-874.
41. Bishop, C.E. (1996). Mouse Y-chromosome. Mammalian Genome 6, S331-S333.
42. Bishop, C.E. and Mitchell, M.J. (1992). Mouse Y-chromosome. Mammalian Genome 3, S289-293.
43. Kay, G.F. et al. (1991). A candidate spermatogenesis gene on the mouse Y-chromosome is homologous to ubiquitin-activating enzyme-E1 Nature 354, 486-489.
44. Mitchell, M.J., Woods, D.R., Tucker, P.K., Opp, J.S. and Bishop, C.E. (1991). Homology of a candidate spermatogenic gene from the mouse Y-chromosome to the ubiquitin-activating enzyme-E1. Nature 354, 483-486.
45. Burgoyne, P.S., Mahadevaiah, S.K., Sutcliffe, M.J. and Palmer, S.J. (1992). Fertility in mice requires X-Y pairing and a Y-chromosomal spermiogenesis gene-mapping to the long arm. Cell 71, 391-398.
46. Conway, S.J., Mahadevaiah, S.K., Darling, S.M., Capel, B., Rattigan, A.M. and Burgoyne, P.S. (1994). Y353/b - a candidate multiple-copy spermiogenesis gene on the mouse Y-chromosome. Mammalian Genome 5, 203-210.
47. Laval, S.H. et al. (1995). Y-chromosome short arm-Sxr recombination in XSxr/Y males causes deletion of Rbm and XY female sex reversal. Proc. Natl Acad. Sci. USA 92, 10403-10407.
48. Mitchell, M.J., Woods, D.R., Wilcox, S.A., Graves, J.A.M. and Bishop, C.E. (1992). Marsupial Y-chromosome encodes a homolog of the mouse Y-linked candidate spermatogenesis gene Ube 1y. Nature 359, 528-531 Record - 142.
49. Koken, M.H.M. et al. (1991). Structural and functional conservation of 2 human homologs of the yeast DNA-repair gene rad6. Proc. Natl Acad. Sci. USA 88, 8865-8869.
50. Zhao, G.Q., Deng, K., Labosky, P.A., Liaw, L. and Hogan, B.L.M. (1996). The gene encoding bone morphogenetic protein 8b is required for the initiation and maintenance of spermatogenesis in the mouse. Genes Dev. 10, 1657-1669
51. Bitgood, M.J., Shen, L.Y. and Mcmahon, A.P. (1996). Sertoli-cell signaling by desert hedgehog regulates the male germline. Curr. Biol. 6, 298-304
52. Monaco, L., Nantel, F., Foulkes, N.S. and Sassone-Corsi, P. (1996). CREM: A transcriptional master switch governing the cAMP response in the testis. In Signal Transduction in Testicular Cells. Basic and Clinical Aspects (ed. V. Hansson, F. O. Levy and K. Tasken), pp. 69-93. Springer-Verlag, Berlin, Heidelberg.
53. Foulkes, N.S., Schlotter, F., Pevet, P. and Sassone-Corsi, P. (1993). Pituitary-hormone FSH directs the CREM functional switch during spermatogenesis. Nature 362, 264-267.
54. Levy, E.R. and Burgoyne, P.S. (1986). The fate of XO germ cells in the testis of XO/XY/XXY mouse mosaics: evidence for a spermatogenesis gene on the mouse Y chromosome. Cytogenet. Cell Genet. 42, 208-213.
55. Zsebo, K.M. et al. (1990). Stem-cell factor is encoded at the SI-locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell 63, 213-224.
56. Flanagan, J.G. and Leder, P. (1990). The kit ligand - a cell-surface molecule altered in steel mutant fibroblasts. Cell 63, 185-194.
57. Duncan, M.K., Lieman, J. and Chada, K.K. (1995). The germ-cell deficient locus maps to mouse chromosome 11A 2-3. Mammalian Genome 6, 697-699.
58. Yoshinaga, K. et al. (1991). Role of c-kit in mouse spermatogenesis -identification of spermatogonia as a specific site of c-kit expression and function. Development 113, 689-699.
59. Silver, L.M. (1985). Mouse T-haplotypes. Annu. Rev. Genet. 19, 179-208.
60. Hosseini, R. et al. (1994). The mouse t-complex gene, top-11, is under translational control. Mech. Dev. 47, 73-80.
61. Roest, H.P. et al. (1996). Inactivation of the HR6B ubiquitin-conjugating DNA-repair enzyme in mice causes male sterility associated with chromatin modification. Cell 86, 799-810.
62. Noguchi, T. and Noguchi, M. (1985). A recessive mutation (ter) causing germ-cell deficiency and a high incidence of congenital testicular teratomas in 129/sv-ter mice. J. Nat. Cancer Inst. 75, 385-392.
63. Beamer, W.G., Cunliffebeamer, T.L., Shultz, K.L., Langley, S.H. and Roderick, T.H. (1988). Juvenile spermatogonial depletion (jsd) - a genetic defect of germ-cell proliferation of male mice. Biol. Reprod. 38, 899-908.
64. Barton, D.E., Yangfeng, T.L., Mason, A.J., Seeburg, P.H. and Francke, U. (1989). Mapping of genes for inhibin subunit-alpha, subunit-β-a, and subunit-β-b on human and mouse chromosomes and studies of jsd mice. Genomics 5, 91-99.
65. Nantel, F. et al. (1996) Spermiogenesis deficiency and germ-cell apoptosis in CREM-mutant mice. Nature 380, 159-162.
66. Blendy, J.A., Kaestner, K.H., Weinbauer, G.F., Nieschlag, E. and Schutz, G. (1996). Severe impairment of spermatogenesis in mice lacking the CREM gene. Nature 380, 162-165.
67. Dix, D.J. et al. (1996). Targeted gene disruption of HSP70-2 results in failed meiosis, germ-cell apoptosis, and male infertility. Proc. Natl Acad. Sci. USA 93, 3264-3268.
68. Baker, S.M. et al. (1995). Male-mice defective in the DNA mismatch repair gene pms2 exhibit abnormal chromosome synapsis in meiosis. Cell 82, 309-319.
69. Edelmann, W. et al. (1996). Meiotic pachytene arrest in mlh1-deficient mice. Cell 85 1125-1134.
70. Xu, Y., Ashley, T., Brainerd, E.E., Bronson, R.T., Meyn, M.S. and Baltimore, D. (1996). Targeted disruption of ATM leads to growth-retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev. 10, 2411-2422.
71. Kastner, P. et al. (1996). Abnormal spermatogenesis in RXRβ mutant mice. Genes Dev. 10, 80-92.
72. Odorisio, T., Mahadevaiah, S.K., McCarrey, J.R. and Burgoyne, P.S. (1996). Transcriptional analysis of the candidate spermatogenesis gene Ube1y and of the closely related Ube1x shows that they are co-expressed in spermatogonia and spermatids but are repressed in pachytene spermatocytes. Dev. Biol. 180, 336-343.
73. Elliott, D. J. et al. (1997). Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc. Natl Acad. Sci. USA 94, 3848-3853.