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http://dx.doi.org/10.5352/JLS.2007.17.5.613

Expression analysis of RBMY1, CDY1, and VCY2 genes in Korean male infertility  

Huh, Jae-Won (Division of Biological Sciences, Collage of Natural Sciences, Pusan National University)
Kim, Woo-Young (Division of Biological Sciences, Collage of Natural Sciences, Pusan National University)
Kim, Dae-Soo (Division of Biological Sciences, Collage of Natural Sciences, Pusan National University)
Ha, Hong-Seok (Division of Biological Sciences, Collage of Natural Sciences, Pusan National University)
Park, Nam-Chul (Department of Urology, College of Medicine, Pusan National University)
Choi, Ook-Hwan (Department of Obstetrics and Gynecology, College of Medicine, Pusan National University)
Nam, Ki-Man (Department of Obstetrics and Gynecology, College of Medicine, Pusan National University)
Choi, Jin (Department of Urology, School of Medicine, Kanazawa University)
Kim, Heui-Soo (Division of Biological Sciences, Collage of Natural Sciences, Pusan National University)
Publication Information
Journal of Life Science / v.17, no.5, 2007 , pp. 613-618 More about this Journal
Abstract
Azoospermia factor(AZFa, b, and c) regions have been focused on their involvement in the spermatogenic process by frequent observation of microdeletion in male infertility. Among the azoospermia factors, RBMY1, CDY1, and VCY2 genes are strongly associated with the male germinal cell differentiation and development in testis. Using RT-PCR approach, expression patterns of RBMY1, CDY1, and VCY2 genes are examined in testicular biopsy specimens from 42 Korean azoospermic patients. No expression of RBMY1, CDY1, and VCY2 genes appeared as 34%, 66%, and 27% of the male infertility, respectively. Patients who had no expression of RBMY1 and VCY2 genes also showed negative expression of the CDY1 gene in their testis tissues. All Sertoli cell-only syndrome patients showed no expression of the CDY1 gene. Taken together, the CDY1 gene expression seems to be necessary factor to complete spermatogenesis in Korean population.
Keywords
CDY1; RBMY1; VCY2; Korean population; male infertility;
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1 Thonneau, P., S. Marchand, A. Tallec, M. L. Ferial, B. Ducor, J. Lansac, P. Lopes, J. M. Tabaste and A. Spira. 1991. Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988-1989). Hum. Reprod. 6, 811-816   DOI
2 Tiepolo, L. and O. Zuffardi. 1976. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Gent. 28, 119-124
3 Tse, J. Y., E. Y. Wong, A. N. Cheung, W. S. O, P. C. Tam and W. S. Yeung. 2003. Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility. Biol. Reprod. 69, 746-751   DOI   ScienceOn
4 Venables, J. P., D. J. Elliott, O. V. Makarova, E. M. Makarov, H. J. Cooke and I. C. Eperon. 2000. RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. Hum. Mol. Genet. 9, 685-694   DOI   ScienceOn
5 Vogt, P. H., A. Edelmann, S. Kirsch, O. Henegariu, P. Hirschmann, F. Kiesewetter, F. M. Kohn, W. B. Schill, S. Farah, C. Ramos, M. Hartmann, W. Hartschuh, D. Meschede, H. M. Behre, A. Castel, E. Nieschlag, W. Weidner, H. J. Grone, A. Jung, W. Engel and G. Haidl. 1996. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5, 933-943   DOI   ScienceOn
6 Wong, E. Y., J. Y. Tse, K. M. Yao, V. C. Lui, P. C. Tam and W. S. Yeung. 2004. Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein. Biol. Reprod. 70, 775-784   DOI   ScienceOn
7 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   DOI   ScienceOn
8 Kleiman, S. E.., L. Yogev, R. Hauser, A. Botchan, B. Bar-Shira Maymon, L. Schreiber, G. Paz and H. Yavetz. 2003. Members of the CDY family have different expression patterns: CDY1 transcripts have the best correlation with complete spermatogenesis. Hum. Genet. 113. 486-492   DOI   ScienceOn
9 Kuroda-Kawaguchi, T., H. Skaletsky, L. G. Brown, P. J. Minx, H. S. Cordum, R. H. Waterston, R. K. Wilson, S. Silber, R. Oates, S. Rozen and D. C. Page. 2001. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29, 279-286   DOI   ScienceOn
10 Lahn, B. T. and D. C. Page. 1999. Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nat. Genet. 21, 429-433   DOI   ScienceOn
11 Mazeyrat, S., N. Saut, M. G. Mattei and M. J. Mitchell. 1999. RBMY evolved on the Y chromosome from a ubiquitously transcribed X-Y identical gene. Nat. Genet. 22, 224-226   DOI   ScienceOn
12 Namiki, M. 2000. Genetic aspects of male infertility. World J. Surg. 24, 1176-1179   DOI   ScienceOn
13 Peterlin. B., T. Kunej, J. Sinkovec, N. Gligorievska and B. Zorn. 2002. Screening for Y chromosome micro deletions in 226 Slovenian subfertile men. Hum. Reprod. 17, 17-24
14 Reijo, R., T. Y. Lee, P. Salo, R Alagappan, L. G. Brown, M. Rosenberg, S. Rozen, T. Jaffe, D. Straus and O. Hovatta. 1995. Diverse spermatogenic defect in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet. 10, 383-393   DOI   ScienceOn
15 Dorus, S., S. L. Gilbert, M. L. Forster, R. J. Barndt and B. T. Lahn. 2003. The CDY-related gene family: coordinated evolution in copy number, expression profile and protein sequence. Hum. Mol. Genet. 12, 1643-1650   DOI   ScienceOn
16 Skaletsky, H., T. Kuroda-Kawaguchi, P. J. Minx, H. S. Cordum, L. Hillier, L. C. Brown, S. Repping, T. Pyntikova, J. Ali, T. Bieri, A. Chinwalla, A. Delehaunty, K. Delehaunty, H. Du, G. Fewell, L. Fulton, R. Fulton, T. Graves, S. F. Hou, P. Latrielle, S. Leonard, E. Mardis, R. Maupin, J. McPherson, T. Miner, W. Nash, C. Nguyen, P. Ozersky, K. Pepin, S. Rock, T. Rohlfing, K. Scott, B. Schultz, C. Strong, A. Tin-Wollam, S. P. Yang, R. H. Waterston, R. K. Wilson, S. Rozen and D. C. Page. 2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423, 825-837   DOI   ScienceOn
17 Chai, N. N., E. C. Salido and P. H. Yen. 1997. Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics 45, 355-361   DOI   ScienceOn
18 Chandley, A .C. and H. J. Cooke. 1994. Human male infertility Y-linked genes and spermatogenesis. Hum. Mol. Genet. 3, 1449-1452   DOI
19 Elliott, D. J. 2004. The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis. Int. J. Androl. 27, 328-334   DOI   ScienceOn
20 Elliott, D. J., M. R. Millar, K. Oghene, A. Ross, F. Kiesewetter, J. Pryor, M. McIntyre, T. B. Hargreave, P. T. Saunders, P. H. Vogt, A. C. Chandley and H. Cooke. 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   DOI
21 Foresta, C., A. Ferlin, A. Garolla, M. Rossato, S. Barbaux and A. de Bertoli. 1997. Y-chromosome deletions in idiopathic severe testiculopathies. J. Clin. Endocrinol. Metab. 82, 1075-1080   DOI   ScienceOn
22 Brown, G. M., R. A. Furlong, C. A Sargent, R. P. Erickson, G. Longepied, M. Mitchell, M. H. Jones, T. B. Hargreave, H. J. Cooke and N. A. Affara. 1998. Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Hum. Mol. Genet. 7, 97-107   DOI   ScienceOn
23 Friel, A., J. A. Houghton, M. Maher, T. Smith, S. Noel, A Nolan, D. Egan and M. Glennon. 2001. Molecular detection of Y chromosome microdeletions: an Irish study. Int. J. Androl. 24, 31-36   DOI   ScienceOn
24 Hargreave, T. B. 2000. Genetic basis of male fertility. Br. Med. Bull. 56, 650-671   DOI   ScienceOn
25 Kleiman, S. E., A. Lagziel, L. Yogev, A. Botchan, C. Paz and H. Yavetz. 2001. Expression of CDY1 may identify complete spermatogenesis. Fertil. Steril. 75, 166-173   DOI   ScienceOn
26 Cooke, H. J. and P. T. Saunders. 2002. Mouse models of male infertility. Nat. Rev. Genet. 3, 790-801   DOI   ScienceOn
27 Bhasin, S., K. Ma and D. M. de Kretser, 1997. Y-chromosome microdeletions and male infertility. Ann. Med. 29, 261-263   DOI   ScienceOn