Male infertility: Analysis of the markers and genes on the human Y chromosome

Human Reproduction

Volumn 13, Issue 11, 1998, Pages 3032-3038

  Kostiner, Dana R ^a   Turek, Paul J ^a   Reijo, Renee A ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Azoospermia; Deletion; Intracytoplasmic sperm injection; Oligozoospermia; Y chromosome

Indexed keywords

DNA;

CHROMOSOME DELETION Y; FERTILIZATION IN VITRO; GENE CLUSTER; GENE MAPPING; GENE SEQUENCE; GENETIC COUNSELING; GENETIC MARKER; HUMAN; MALE; MALE INFERTILITY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; REVIEW; Y CHROMOSOME;

EID: 0031783420     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/13.11.3032     Document Type: Review

References (53)

1. Andersson, M., Page, D.C., Pettay, D. et al. (1988) Y autosome translocates and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq1 1. Hum. Genet, 79, 2-7.
2. Bhasin, S., DeKretser, D.M. and Baker, H.W.G. (1994) Clinical Review 64: Pathophysiology and natural history of male infertility. J. Clin. Endocrinol. Metab., 79, 1525-1529.
3. Buhler, E.M. (1980) A synopsis of the human Y chromosome. Hum. Genet., 55, 145-175.
4. Chai, N.N., Salido, E.G. and Yen, P.H. (1997) Multiple functional copies of the RBM gene family, a spermatogenesis candidate of the human Y chromosome. Genomics, 45, 355-361.
5. Cooke, H.J., Lee, M., Kerr, S. et al. (1996) A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum. Mol. Genet., 5, 513-516.
6. Davis, R.M. (1981) Localization of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. J. Med. Genet., 18, 161-195.
7. Delbridge, M.L., Harry, J.L., Toder, R. et al. (1997) A human candidate spermatogenesis gene, RBMI, is conserved and amplified on the marsupial Y chromosome. Nat. Genet., 15, 131-136.
8. Eberhart, 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.
9. Elliot, D.J., Ma, K., Kerr, S.M. et al. (1996) An RBM homologue maps to the mouse Y chromosome and is expressed in germ cells. Hum. Mol. Genet., 5, 869-874.
10. Elliot, D.J., Millar, M.R., Oghene, K. 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.
11. Fitch, N., Richer, C.-L., Pinsky, L. et al. (1985) Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities. Am. J. Med. Genet., 20, 31-42.
12. Foote, S., Vollrath, D., Hilton, A. et al. (1992) The human Y chromosome: Overlapping DNA clones spanning the euchromatic region. Science, 258, 60-66.
13. Foresta, C., Ferlin, A., Garolla, A. et al. (1997) Y-chromosome deletions in idiopathic severe testiculopathies. J. Clin. Endocrinol. Metab., 82, 1075-1080.
14. Girardi, S.K., Mielnik, A. and Schlegel, P.N. (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod., 12, 1635-1641.
15. Habermann, B., Mi, H.F., Edelmann, A. et al. (1998) DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails. Hum. Reprod., 13, 363-369.
16. Hartung, M., Devictor, M., Codaccioni, J.L. et al. (1988) Yq deletion and failure of spermatogenesis. Ann. Genet., 31, 21-26.
17. Johnson, M.D., Tho, S.P.T., Behzadian, A. et al. (1989) Molecular scanning of Yq11 (interval 6) in men with Sertoli cell-only syndrome. Am. J. Obstet. Gynecol., 161, 1732-1737.
18. Kent-First, M.G., Kol, S., Muallem, A. et al. (1996a) Infertility in intracytoplasmic sperm injection-derived sons. Lancet, 348, 332.
19. Kent-First, M.G., Kol, S., Muallem, A. et al. (1996b) The incidence and possible relevance of Y-linked microdeletions in babies born after intractyoplasmic sperm injection and their infertile fathers. Mol. Hum. Reprod., 2, 943-950.
20. Kobayashi, K., Mizuno, K., Hida, A. et al. (1994) PCR analysis of the Y chromosome long arm in azoospermic patients; evidence for a second locus required for spermatogenesis. Hum. Mol. Genet., 3, 1965-1967.
21. Kremer, J.A.M., Tuerlings, J.H.A.M., Meuleman, E.J.H. et al. (1997) Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic. Hum. Reprod., 12, 687-691.
22. Lahn, B.T. and Page, D.C. (1997) Functional coherence of the human Y chromosome. Science, 278, 675-680.
23. Ma, K., Sharkey, A., Kirsch, S. 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.
24. Ma, K., Inglis, J.D., Sharkey, A. 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.
25. Maiwald, R., Luche. R.M. and Epstein, C.J. (1996) Isolation of a mouse homolog of the human DAZ (Deleted in AZoospermia) gene. Mamm. Genome. 7, 628.
26. Menke, D.B., Mutter, G.L. and Page, D.C. (1997) Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. [Letter.] Am. J. Hum. Genet., 60, 237-241.
27. Mulhall, J.P., Reijo, R., Alaggappan, R. et al. (1997) Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum. Reprod., 12, 503-508.
28. Najmabadi, H., Huang, V., Yen, P. et al. (1996) Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged sitebased mapping strategy. J. Clin. Endocrinol. Metab., 81, 1347-1352.
29. Nakahori, Y., Kobayashi, K., Komaki, R. et al. (1994) A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males. Hum. Mol. Genet., 3, 1709.
30. Nakahori, Y., Kuroki, Y., Komaki, R. et al. (1996) The Y chromosome region essential for spermatogenesis. Hormone Res., 46, 20-23.
31. Neiderberger, C., Agulnik, A.I., Cho, Y. et al. (1997) In situ hybridization shows that Dazla expression in mouse testis is restricted to premeiotic stages IV-VI of spermatogenesis. Mamm. Genome, 8, 277-278.
32. Prosser, J., Inglis, J.D., Condie, A. et al. (1996) Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene. Mamm. Genome, 7, 835-842.
33. Pryor, J.L., Kent-First, M., Muallem, A. et al. (1997) Microdeletions in the Y chromosome of infertile men. N. Engl. J. Med., 336, 534-539.
34. Reijo, R., Lee, T.Y., Salo, P. et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNAbinding protein gene. Nat. Genet., 10, 383-393.
35. Reijo, R., Alagappan. R.K., Patrizio, P. et al. (1996a) Severe oligospermia resulting from deletions of the Azoospermia Factor gene on the Y chromosome. Lancet, 347, 1290-1293.
36. Reijo, R., Seligman, J., Dinulos, M.B. et al. (1996b) 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.
37. Rucker, G.B., Mielnik, A., King, R. et al. (1998) Molecular characterization of genetic anomalies in men with non-obstructive azoospermia. J. Urol., 159, 886A.
38. Ruggiu, M., Speed, R., Taggart, M. et al. (1997) The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis. Nature, 389, 73-77.
39. Saxena, R., Brown, L.G., Hawkins, T. et al. (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat. Genet., 14, 292-299.
40. Shan,Z., Hirschmann, P., Seebacher, T. 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, 2005-2011.
41. Simoni, M., Gromoll, J., Dworniczak, B. et al. (1997) Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil. Steril., 67, 542-547.
42. Skare, J., Drwinga, H., Wyandt, H. et al. (1990) Interstitial deletion involving most of Yq. Am. J. Med. Genet., 36, 394-397.
43. Stuppia, L., Mastroprimiano, G., Calabrese, G. et al. (1996) Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet. Cell. Genet., 72, 155-158.
44. Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet., 34, 119-124.
45. van der Ven, K., Montag, M., Peschka, B. et al. (1997) Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol. Hum. Reprod., 3, 699-704.
46. Vereb, M., Agulnik, A.I., Houston, J.T. et al. (1997) Absence of DAZ gene mutations in cases of non-obstructed azoospermia. Mol. Hum. Reprod., 3, 55-59.
47. Vergnaud, G., Page, D.C., Simmler, M.-C. et al. (1986) A deletion map of the human Y chromosome based on DNA hybridization. Am. J. Hum. Genet., 38, 109-124.
48. Vogt, P., Chandley, A.C., Hargreave, T.B. et al. (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.
49. Vogt, P.H., Edelmann, A., Kirsch, S. et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet., 5, 933-943.
50. Vollrath, D., Foote, S., Hilton, A. et al. (1992) The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science, 258, 52-59.
51. Yen, P.H., Chai, N.N. and Salido, B.C. (1996) The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum. Mol. Genet., 5, 2013-2017.
52. Yen, P.H., Chai, N.N. and Salido, E.C. (1997) fhe human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions. Mamm. Genome, 8, 756-759.
53. Yoshida, A., Nakahori, Y., Kuroki, Y et al. (1997) Dicentric Y chromosome in an azoospermic male. Mol. Hum. Reprod., 3, 709-712.