Human male infertility and Y chromosome deletions: Role of the AZF-candidate genes DAZ, RBM and DFFRY

Human Reproduction

Volumn 14, Issue 7, 1999, Pages 1710-1716

  Ferlin, A ^a   Moro, E ^a   Garolia, A ^a   Foresta, C ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

DAZ; DFFRY; Male infertility; RBM; Y chromosome

Indexed keywords

ARTICLE; AZOOSPERMIA; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE SEVERITY; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; RELATIVE; SERTOLI CELL; SPERMATOGENESIS; TESTIS DISEASE; Y CHROMOSOME;

EID: 0032787762     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/14.7.1710     Document Type: Article

References (46)

1. Agulnik, A.I., Zharkikh, A., Boettger-Tong, H. et al. (1998) Evolution of the DAZ gene family suggests that Y-linked DAZ plays a little, or a limited, role in spermatogenesis but underlines a recent African origin for human population. Hum. Mol. Genet., 1, 1371-1377.
2. b interval of the mouse Y chromosome of the Dffry gene. Hum. Mol. Genet., 7, 97-107.
3. Chai, N.N., Salido, B.C. and Yen, P.H. (1997) Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics, 45, 355-361.
4. Chai, N.N., Zhou, H., Hernandez, J. et al. (1998) Structure and organization of the RBMY genes on the human Y chromosome: translocation and amplification of an ancestral autosomal hnRNPG gene. Genomics, 49, 283-289.
5. Chandley, A.C. and Cooke, H.J. (1994) Human male fertility - Y linked genes and spermatogenesis. Hum. Mot. Genet., 3, 1449-1452.
6. Cooke, H. and Elliott, D.J. (1997) RNA-binding proteins and human male infertility. Trends Genet., 13, 87-89.
7. Delbridge, M.L., Harry, J.L., Toder, R. et al. (1997) A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nature Genet., 15, 131-136.
8. Duell, T., Mathews, S., Wunderlich, B. et al. (1998) Interstitial and terminal deletion of chromosome Y in a male individual with cryptozoospermia. Mol. Hum. Reprod., 4, 325-331.
9. 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.
10. Elliott, 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. Sei. USA, 94, 3848-3853.
11. Elliott, D.J., Oghene, K., Makarov, G. et al. (1998) Dynamic changes in the subnuclear organisation of pre-mRNA splicing proteins and RBM during human germ cell development. J. Cell Sei., Ill, 1255-1265.
12. Foresta, C. and Varotto, A. (1992) Assessment of testicular cytology by fine needle aspiration as a diagnostic parameter in the evaluation of the oligozoospermic subject. Fertil. Steril., 58, 1028-1033.
13. Foresta, C., Varotto, A. and Scandellari, C. (1992) Assessment of testicular cytology by fine needle aspiration as a diagnostic parameter in the evaluation of the azoospermic subject. Fertil. Steril., 57, 858-865.
14. Foresta, C., Ferlin, A., Bettella, A. et al. (1995) Diagnostic and clinical features in azoospermia. Clin. Endocrinol., 43, 537-543.
15. Foresta, C., Ferlin, A., Garolla, A. et al. (1997) Y-chromosome deletions in idiopathic severe testiculopathies. J. Clin. Endocrinol. Metab., 82, 1075-1080.
16. Foresta, C., Ferlin, A., Garolla, A. et al. (1998) High frequency of welldefined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum. Reprod., 13, 302-307.
17. Girardi, S.K., Mielnik, A. and Schlegel, P.N. (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod., 12, 1635-1641.
18. Gläser, B., Herl, T., Taylor, K. et al. (1997) High resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin. Chrom. Res., 5, 23-30.
19. Habcrmann, 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, 363-368.
20. Kobayashi, K., Mizumo, K., Hida, A. et a!. (1995) 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. Lahn, B.T. and Page, D.C. (1997) Functional coherence of the human Y chromosome. Science, 278, 675-680.
22. Lee, J.H., Lee, D.R., Yoon, S.J. et al. (1998) Expression of DAZ (deleted in azoospermia), DAZL1 (DAZ-like) and protamine-2 in testis and its application for diagnosis of spermatogenesis in non-obstructive azoospermia. Mol. Hum. Reprod., 4, 827-834.
23. Liow, S.L., Ghadessy, F.J., Ng, S.C. et al. (1998) Y chromosome microdeletions, in azoospermic or near-azoospermic subjects, are located in the AZFc (DAZ) subregion. Mol. Hum. Reprod., 4, 763-768.
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. Mazeyrat, S., Sant, N., Sargent, C.A. et al. (1998) The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region. Hum. Mol. Genet., 7, 1713-1724.
26. 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, 237-240.
27. Mulhall, J.P., Reijo, R., Alagappan, 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. (1996a) 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. Najmabadi, H., Chai, N.N., Kapali, A. et al. (1996b) Genomic structure of a Y-specific ribonucleic acid binding motif-containing gene: a putative candidate for a subset of male infertility. J. Clin. Endocrinol. Metab., 81, 2159-2164.
30. 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.
31. Qureshi, S.J., Ross, A.R., Ma, K. 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.
32. Reijo, R., Lee, T., Salo, P. et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNAbinding protein gene. Nature Genet., 10, 383-393.
33. Reijo, R., Alagappan, R.K., Patrizio, P. et al. (1996) Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet, 347, 1290-1293.
34. Rossato, M., Ferlin, A., Garolla, A. et al. (1998) High fertilization rate in conventional in-vitro fertilization utilizing spermatozoa from an oligozoospermic subject presenting microdeletions of the Y chromosome long arm. Mol. Hum. Reprod., 4, 473-476.
35. Saxena, R., Brown, L., 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. Nature Genet., 14, 292-299.
36. Simoni, M., Gromoll, J., Dwomiczak, 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.
37. Stuppia, L., Mastroprimiano, G., Calabrese, G. et al. (1996) Microdeletions in interval 6 of the human Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo-azoospermia. Cytogenet. Cell. Genet., 72, 155-158.
38. Stuppia, L., Gatta, V., Mastroprimiano, G. et al. (1997) Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an olieozoospermia critical region outside the DAZ gene. J. Med. Genet., 34, 881-883.
39. 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.
40. 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.
41. Vogt, P.H., Edelmann, A., Kirsch, S. et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yqll. Hum. Mol. Genet., 5, 933-943.
42. Vogt, P.H., Affara, N., Davey, P. et al. (1997) Report of the third international workshop on Y chromosome mapping 1997. Cytogenet. Cell. Genet., 79, 1-20.
43. 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.
44. Word Health Organization (1992) WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. Cambridge University Press, Cambridge.
45. Yen, P.H. (1998) A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics, 54, 5-12.
46. Yen, P.H., Chai, N.N. and Salido, E.C. (1997) The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions. Mflinm. Genome, 8, 756-759.