gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population

Gene

Volumn 592, Issue 1, 2016, Pages 29-35

  Ghorbel, Myriam ^a   Baklouti Gargouri, Siwar ^a   Keskes, Rim ^a   Chakroun, Nozha ^a   Sellami, Afifa ^a   Fakhfakh, Faiza ^a   Ammar Keskes, Leila ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

Author keywords

CDY1gene; DAZ gene; gr gr deletions; Male infertility; Y chromosome

Indexed keywords

AZOOSPERMIA FACTOR C; PROTEIN; PROTEIN CDY1B; PROTEIN DAZ2; PROTEIN DAZ4; UNCLASSIFIED DRUG; CDY1 PROTEIN, HUMAN; DAZ2 PROTEIN, HUMAN; DAZ4 PROTEIN, HUMAN; NUCLEAR PROTEIN; RNA BINDING PROTEIN;

ARTICLE; AZOOSPERMIA; CONTROLLED STUDY; GENE DELETION; HUMAN; INFERTILITY; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OLIGOSPERMIA; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; SEQUENCE TAGGED SITE; SPERM QUALITY; SPERMATOGENESIS; TUNISIAN; ADULT; CASE CONTROL STUDY; GENETICS; TUNISIA; Y CHROMOSOME;

ADULT; AZOOSPERMIA; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, Y; GENE DELETION; HUMANS; MALE; NUCLEAR PROTEINS; RNA-BINDING PROTEINS; TUNISIA;

EID: 85010222437     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2016.07.050     Document Type: Article

References (42)

1. Balkan, M., Tekes, S., Gedik, A., Cytogenetic and Y chromosome microdeletion screening studies in infertile males with oligozoospermia and azoospermia in Southeast Turkey. J. Assist. Reprod. Genet. 25 (2008), 559–565.
2. Choi, J.M., Chung, P., Veeck, L., Mielnik, A., Palermo, G.D., Schlegel, P.N., AZF microdeletions of the Y chromosome and in vitro fertilization outcome. Fertil. Steril. 81 (2004), 337–341.
3. Eloualid, A., Rhaissi, H., Reguig, A., Bounaceur, S., El Houate, B., Abidi, O., Charif, M., Louanjli, N., Chadli, E., Barakat, A., Bashamboo, A., McElreavey, K., Rouba, H., Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One, 7, 2012, e34902.
4. Ferlin, A., Tessari, A., Ganz, F., Marchina, E., Barlati, S., Garolla, A., Engl, B., Foresta, C., Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J. Med. Genet. 42 (2005), 209–213.
5. Fernandes, S., Huellen, K., Goncalves, J., Dukal, H., Zeisler, J., Rajpert De Meyts, E., Skakkebaek, N.E., Habermann, B., Krause, W., Sousa, M., Barros, A., Vogt, P.H., High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol. Hum. Reprod. 8 (2002), 286–298.
6. Fernando, L., Gromoll, J., Weerasooriya, T.R., Nieschlag, E., Simoni, M., Y-chromosomal microdeletions and partial deletions of the azoospermia factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka. Asian J. Androl. 8 (2006), 39–44.
7. Ghorbel, M., Gargouri, S.B., Zribi, N., Abdallah, F.B., Cherif, M., Keskes, R., Chakroun, N., Sellami, A., McElreavey, K., Fakhfakh, F., Ammar-Keskes, L., Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men. Genet. Test. Mol. Biomarkers 16 (2012), 775–779.
8. Ghorbel, M., Baklouti-Gargouri, S., Keskes, R., Chakroun, N., Sellami, A., Fakhfakh, F., Ammar-Keskes, L., Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men. Gene 548 (2014), 251–255.
9. Giachini, C., Guarducci, E., Longepied, G., Degl'Innocenti, S., Becherini, L., Forti, G., Mitchell, M.J., Krausz, C., The gr/gr deletion(s): a new genetic test in male infertility?. J. Med. Genet. 42 (2005), 497–502.
10. Giachini, C., Nuti, F., Marinari, E., Forti, G., Krausz, C., Partial AZFc deletions in infertile men with cryptorchidism. Hum. Reprod. 22 (2007), 2398–2403.
11. Giachini, C., Laface, I., Guarducci, E., Balercia, G., Forti, G., Krausz, C., Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum. Genet. 124 (2008), 399–410.
12. Habermann, B., Mi, H.F., Edelmann, A., Bohring, C., Backert, I.T., Kiesewetter, F., Aumuller, G., Vogt, P.H., DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails. Hum. Reprod. 13 (1998), 363–369.
13. Hopps, C.V., Mielnik, A., Goldstein, M., Palermo, G.D., Rosenwaks, Z., Schlegel, P.N., Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum. Reprod. 18 (2003), 1660–1665.
14. Kleiman, S.E., Yogev, L., Hauser, R., Botchan, A., Bar-Shira Maymon, B., Schreiber, L., Paz, G., Yavetz, H., Members of the CDY family have different expression patterns: CDY1 transcripts have the best correlation with complete spermatogenesis. Hum. Genet. 113 (2003), 486–492.
15. Krausz, C., Giachini, C., Xue, Y., O'Bryan, M.K., Gromoll, J., Rajpert-de Meyts, E., Oliva, R., Aknin-Seifer, I., Erdei, E., Jorgensen, N., Simoni, M., Ballesca, J.L., Levy, R., Balercia, G., Piomboni, P., Nieschlag, E., Forti, G., McLachlan, R., Tyler-Smith, C., Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. J. Med. Genet. 46 (2009), 21–31.
16. Kuroda-Kawaguchi, T., Skaletsky, H., Brown, L.G., Minx, P.J., Cordum, H.S., Waterston, R.H., Wilson, R.K., Silber, S., Oates, R., Rozen, S., Page, D.C., The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29 (2001), 279–286.
17. Lanfranco, F., Kamischke, A., Zitzmann, M., Nieschlag, E., Klinefelter's syndrome. Lancet 364 (2004), 273–283.
18. Lardone, M.C., Parodi, D.A., Ebensperger, M., Penaloza, P., Cornejo, V., Valdevenito, R., Pommer, R., Castro, A., AZFc partial deletions in Chilean men with severe spermatogenic failure. Fertil. Steril. 88 (2007), 1318–1326.
19. Lewin, H.A., Stewart-Haynes, J.A., A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques 13 (1992), 522–524.
20. Li, Q., Qiao, D., Song, N.H., Ding, Y., Wang, Z.J., Yang, J., Wang, W., Yin, C.J., Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the south Chinese population. World J. Urol. 31 (2013), 1403–1409.
21. Lu, C., Jiang, J., Zhang, R., Wang, Y., Xu, M., Qin, Y., Lin, Y., Guo, X., Ni, B., Zhao, Y., Diao, N., Chen, F., Shen, H., Sha, J., Xia, Y., Hu, Z., Wang, X., Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment. Mol. Hum. Reprod. 20 (2014), 836–843.
22. Machev, N., Saut, N., Longepied, G., Terriou, P., Navarro, A., Levy, N., Guichaoua, M., Metzler-Guillemain, C., Collignon, P., Frances, A.M., Belougne, J., Clemente, E., Chiaroni, J., Chevillard, C., Durand, C., Ducourneau, A., Pech, N., McElreavey, K., Mattei, M.G., Mitchell, M.J., Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J. Med. Genet. 41 (2004), 814–825.
23. Navarro-Costa, P., Goncalves, J., Plancha, C.E., The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum. Reprod. Update 16 (2010), 525–542.
24. Okabe, M., Ikawa, M., Ashkenas, J., Male infertility and the genetics of spermatogenesis. Am. J. Hum. Genet. 62 (1998), 1274–1281.
25. Ravel, C., Chantot-Bastaraud, S., El Houate, B., Rouba, H., Legendre, M., Lorenco, D., Mandelbaum, J., Siffroi, J.P., McElreavey, K., Y-chromosome AZFc structural architecture and relationship to male fertility. Fertil. Steril. 92 (2009), 1924–1933.
26. Reijo, R., Lee, T.Y., Salo, P., Alagappan, R., Brown, L.G., Rosenberg, M., Rozen, S., Jaffe, T., Straus, D., Hovatta, O., et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet. 10 (1995), 383–393.
27. Reijo, R.A., Dorfman, D.M., Slee, R., Renshaw, A.A., Loughlin, K.R., Cooke, H., Page, D.C., DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. Biol. Reprod. 63 (2000), 1490–1496.
28. Repping, S., Skaletsky, H., Brown, L., van Daalen, S.K., Korver, C.M., Pyntikova, T., Kuroda-Kawaguchi, T., de Vries, J.W., Oates, R.D., Silber, S., van der Veen, F., Page, D.C., Rozen, S., Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat. Genet. 35 (2003), 247–251.
29. Rozen, S.G., Marszalek, J.D., Irenze, K., Skaletsky, H., Brown, L.G., Oates, R.D., Silber, S.J., Ardlie, K., Page, D.C., AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. Am. J. Hum. Genet. 91 (2012), 890–896.
30. Saxena, R., de Vries, J.W., Repping, S., Alagappan, R.K., Skaletsky, H., Brown, L.G., Ma, P., Chen, E., Hoovers, J.M., Page, D.C., Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67 (2000), 256–267.
31. Sen, S., Ambulkar, P., Hinduja, I., Zaveri, K., Gokral, J., Pal, A., Modi, D., Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions. J. Assist. Reprod. Genet. 32 (2015), 1333–1341.
32. Shahid, M., Dhillon, V.S., Khalil, H.S., Sexana, A., Husain, S.A., Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients. Eur. J. Hum. Genet. 19 (2011), 23–29.
33. Sin, H.S., Koh, E., Shigehara, K., Sugimoto, K., Maeda, Y., Yoshida, A., Kyono, K., Namiki, M., Features of constitutive gr/gr deletion in a Japanese population. Hum. Reprod. 25 (2010), 2396–2403.
34. Skaletsky, H., Kuroda-Kawaguchi, T., Minx, P.J., Cordum, H.S., Hillier, L., Brown, L.G., Repping, S., Pyntikova, T., Ali, J., Bieri, T., Chinwalla, A., Delehaunty, A., Delehaunty, K., Du, H., Fewell, G., Fulton, L., Fulton, R., Graves, T., Hou, S.F., Latrielle, P., Leonard, S., Mardis, E., Maupin, R., McPherson, J., Miner, T., Nash, W., Nguyen, C., Ozersky, P., Pepin, K., Rock, S., Rohlfing, T., Scott, K., Schultz, B., Strong, C., Tin-Wollam, A., Yang, S.P., Waterston, R.H., Wilson, R.K., Rozen, S., Page, D.C., The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423 (2003), 825–837.
35. Stahl, P.J., Masson, P., Mielnik, A., Marean, M.B., Schlegel, P.N., Paduch, D.A., A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertil. Steril. 94 (2010), 1753–1756.
36. Stahl, P.J., Mielnik, A., Margreiter, M., Marean, M.B., Schlegel, P.N., Paduch, D.A., Diagnosis of the gr/gr Y chromosome microdeletion does not help in the treatment of infertile American men. J. Urol. 185 (2011), 233–237.
37. Vogt, P.H., Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Mol. Cell. Endocrinol. 224 (2004), 1–9.
38. WHO, World Health Organization. Fifth edition Examination and Processing of Human Semen, 2010, 21–102.
39. Yang, Y., Xiao, C.Y., Z. C., A., Zhang, S.Z., Li, X., Zhang, S.X., DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men. Asian J. Androl. 8 (2006), 183–187.
40. Ye, J.J., Ma, L., Yang, L.J., Wang, J.H., Wang, Y.L., Guo, H., Gong, N., Nie, W.H., Zhao, S.H., Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China. J. Zhejiang Univ. Sci. B 14 (2013), 807–815.
41. Yen, P.H., Putative biological functions of the DAZ family. Int. J. Androl. 27 (2004), 125–129.
42. Zhang, F., Lu, C., Li, Z., Xie, P., Xia, Y., Zhu, X., Wu, B., Cai, X., Wang, X., Qian, J., Jin, L., Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J. Med. Genet. 44 (2007), 437–444.