Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification

Journal of Human Genetics

Volumn 60, Issue 3, 2015, Pages 127-131

  Saito, Kazuki ^a,b,c   Miyado, Mami ^a   Kobori, Yoshitomo ^d   Tanaka, Yoko ^e   Ishikawa, Hiromichi ^e   Yoshida, Atsumi ^f   Katsumi, Momori ^a   Saito, Hidekazu ^c   Kubota, Toshiro ^b   Okada, Hiroshi ^d   Ogata, Tsutomu ^a,g   Fukami, Maki ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

^d DOKKYO MEDICAL UNIVERSITY   (Japan)

^e TOKYO DENTAL COLLEGE   (Japan)

^f Reproduction Center   (Japan)

^g HAMAMATSU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENETIC HETEROGENEITY; HOMOLOGOUS RECOMBINATION; HUMAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; SEMEN ABNORMALITY; SEQUENCE TAGGED SITE; SPERMATOGENIC FAILURE; Y CHROMOSOMAL AZOOSPERMIA FACTOR REGION; Y CHROMOSOME; AZOOSPERMIA; BIOLOGICAL MODEL; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; GENETIC RECOMBINATION; GENETICS; MULTIPLEX POLYMERASE CHAIN REACTION; OLIGOSPERMIA; PROCEDURES; RISK FACTOR; SPERMATOGENESIS;

AZOOSPERMIA; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, Y; DNA COPY NUMBER VARIATIONS; HUMANS; MALE; MODELS, GENETIC; MULTIPLEX POLYMERASE CHAIN REACTION; OLIGOSPERMIA; RECOMBINATION, GENETIC; RISK FACTORS; SPERMATOGENESIS;

EID: 84925775095     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.115     Document Type: Article

References (26)

1. Vogt, P. H., Edelmann, A., Kirsch, S., Henegariu, O., Hirschmann, P. & Kiesewetter, F. et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5, 933-943 (1996
2. Giacco, D. L., Chianese, C., Sanchez-Curbelo, J., Bassas, L., Ruiz, P., Rajmil, O. et al. Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory. Eur. J. Hum. Genet. 22, 754-761 (2014
3. Repping, S., Skaletsky, H., Lange, J., Silber, S., Veen, F., Oates, R. D. et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 71, 906-922 (2002
4. Kuroda-Kawaguchi, T., Skaletsky, H., Brown, L. G., Minx, P. J., Cordum, H. S., Waterston, R. H. et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29, 279-286 (2001
5. Lu, C., Jiang, J., Zhang, R., Wang, Y., Xu, M., Qin, Y. et al. Gene copy number alterations in the azoospermia-Associated AZFc region and their effect on spermatogenic impairment. Mol. Hum. Reprod. 20, 836-843 (2014
6. Shen, Y., Yan, Y., Liu, Y., Zhang, S., Yang, D., Zhang, P. et al. A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion. Hum. Mol. Genet. 22, 1679-1695 (2013
7. Stahl, P. S., Mielnik, A. N., Barbieri, C. E., Schlegel, P. N. & Paduch, D. A. Deletion or underexpression of they-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia. Asian J. Androl. 14, 676-682 (2012
8. Kleiman, S. E., Yogev, L., Hauser, R., Botchan, A., Maymon, B. B., Schreiber, L. et al. Members of the CDY family have different expression patterns: CDY1 transcripts have the best correlation with complete spermatogenesis. Hum. Genet. 113, 486-492 (2003
9. Krausz, C., Hoefsloot, L., Simoni, M & Tuttelmann, F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-Theart 2013. Andrology 2, 5-19 (2014
10. Rosen, S. G., Marszalek, J. D., Irenze, K., Skaletsky, H., Brown, L. G. & Oates, R. D. et al. AZFc deletions and spermatogenic failure: a population-based survey of 20, 000 Y chromosomes. Am. J. Hum. Genet. 91, 890-896 (2012
11. Carvalho, C. M. B., Zuccherato, L. W., Fujisawa, M., Shirakawa, T., Ribeiro-dos-Santos, A. K. C., Santos, S. E. B. et al. Study of AZFc partial deletion gr/gr in firtile and infertile Japanese males. J. Hum. Genet. 51, 794-799 (2006
12. Repping, S., Skaletsky, H., Brown, L., Daalen, S. K. M., Korver, C. M., Pyntikova, T. et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat. Genet. 35, 247-251 (2003
13. Fernandes, S., Paracchini, S., Meyer, L. H., Floridia, G., Tyler-Smith, C. & Vogt, P. H. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am. J. Hum. Genet. 74, 180-187 (2004
14. Lu, C., Zhang, F., Yang, H., Xu, M., Du, G., Wu, W. et al. Additional genomic duplications in AZFc underlie the b2/b3 deletion-Associated risk of spermatogenic impairment in Han Chinese population. Hum. Mol. Genet. 20, 4411-4421 (2011
15. Krausz, C., Giachini, C., Xue, Y., O'Brya, M. K., Gromoll, J., Meyts, E. R. et al. Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. J. Med. Genet. 46, 21-31 (2009
16. Lin, Y., Hsu, L. C., Kuo, P., Huang, W. J., Chiang, H., Yeh, S. et al. Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan. Hum. Mutat. 28, 486-494 (2007
17. Ye, J., Ma, L., Yang, L., Wang, J., Wang, Y., Guo, H. et al. Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China. J. Zhejiang Univ. Sci. B 14, 807-815 (2013
18. 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, 399-410 (2008
19. Stuppia, L., Antonucci, I., Palka, G. & Gatta, V. Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int. J. Mol. Sci. 13, 3245-3276 (2012
20. Coughlin, C. R., Scharer, G. H. & Shaikh, T. H. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med. 4, 80 (2012
21. Bunyan, D. J., Callaway, J. L. A. & Laddach, N. Detection of partial deletions of Y-chromosome AZFc in infertile men using the multiplex Ligation-dependent Probe Amplification Assay. J. Reprod. Infertil. 13, 174-178 (2012
22. Liu, X. H., Yan, L. Y., Lu, C. L., Li, R., Zhu, X. H. & Jin, H. Y. ART do not increase the risk of Y-chromosome microdeletion in 19 candidate genes at AZF regions. Reprod. Fertil. Dev. 26, 778-786 (2013
23. Kihaile, P. E., Yasui, A. & Shuto, Y. Prospective assessment of Y-chromosome microdeletions and reproductive outcomes among infertile couples of Japanese and African origin. J. Exp. Clin. Assist. Reprod. 2, 9 (2005
24. Carvalho, C. M. B., Zhang, F. & Lupski, J. R. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst. Biol. Reprod. Med. 57, 3-16 (2011
25. Sun, C., Skaletsky, H., Birren, B., Devon, K., Tang, Z., Silber, S. et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat. Genet. 23, 429-432 (1999
26. Cram, D. S., Ma, K., Bhasin, S., Arias, J., Pandjaitan, M., Chu, B. et al. Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions. Fertil. Steril. 74, 909-915 (2000