Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Genetics and Molecular Research

Volumn 14, Issue 4, 2015, Pages 16041-16049

  Dong, Y ^a,b   Pan, Y ^a   Wang, R ^a   Zhang, Z ^a   Xi, Q ^a   Liu, R Z ^a  

^a JILIN UNIVERSITY   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Azoospermia; Chromosomal abnormalities; Copy number variations; Oligozoospermia; Spermatogenic failure; Y chromosomal microdeletions

Indexed keywords

HLA DQA1 ANTIGEN; HLA DRB1 ANTIGEN;

ADAMTS20 GENE; ADULT; ALF GENE; ARTICLE; AZOOSPERMIA; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; COX10 GENE; DNEL1 GENE; DNMT3L GENE; EDDM3A GENE; EDDM3B GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENE STRUCTURE; GOLGA8C GENE; HLA DQA1 GENE; HLA DRB1 GENE; HUMAN; HUMAN CELL; KARYOTYPING; MAK GENE; MALE; MALE INFERTILITY; NPHP1 GENE; NRG1 GENE; PATIENT; POTE B GENE; RID2 GENE; SPERMATOGENIC FAILURE PATIENT; TESTIS TISSUE; TWF1 GENE; WHOLE GENOME SEQUENCING; YOUNG ADULT; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; DISORDER OF SEX DEVELOPMENT; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; INFERTILITY, MALE; PHENOTYPE; SEMEN ANALYSIS; SEX CHROMOSOME ABERRATION; SPERMATOGENESIS; Y CHROMOSOME;

ADULT; AZOOSPERMIA; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, Y; DNA COPY NUMBER VARIATIONS; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFERTILITY, MALE; MALE; PHENOTYPE; SEMEN ANALYSIS; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT; SPERMATOGENESIS; YOUNG ADULT;

EID: 84979871472     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2015.December.7.17     Document Type: Article

References (33)

1. Carrell DT, De Jonge C and Lamb DJ (2006). The genetics of male infertility: A field of study whose time is now. Arch. Androl. 52: 269-274.
2. Damyanova V, Dimitrova-Dikanarova D, Hadjidekova S, Savov A, et al. (2013). Genomic study in patients with idiopathic azoospermia and oligoasthenoteratozoospermia. Akush. Ginekol. 52: 27-34.
3. Fanciulli M, Petretto E and Aitman TJ (2010). Gene copy number variation and common human disease. Clin. Genet. 77: 201-213.
4. Ferlin A, Raicu F, Gatta V, Zuccarello D, et al. (2007). Male infertility: Role of genetic background. Reprod. Biomed. Online 14: 734-745.
5. Feuk L, Carson AR and Scherer SW (2006). Structural variation in the human genome. Nat. Rev. Genet. 7: 85-97.
6. Freeman JL, Perry GH, Feuk L, Redon R, et al. (2006). Copy number variation: New insights in genome diversity. Genome. Res. 16: 949-961.
7. Ghorbel M, Baklouti-Gargouri S, ElGhazel H, Zribi N, et al. (2013). Pericentric inversion of chromosom 12 [Inv (12) (p12q12)] associated with idiopathic azoospermia in one infertile Tunisian man. Biochem. Biophys. Res. Commun. 432: 472-474.
8. Guediche N, Tosca L, Kara TA, Bas C, et al. (2012). Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility. Reprod. Biomed. Online 24: 72-82.
9. Hildebrandt F, Otto E, Rensing C, Nothwang HG, et al. (1997). A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat. Genet. 17: 149-153.
10. Hu Z, Li Z, Yu J, Tong C, et al. (2014). Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men. Nat. Commun. 5: 3857.
11. Huang JX, Scott MB, Pu XY and Zhou-Cun A (2012). Association between single-nucleotide polymorphisms of DNMT3L and infertility with azoospermia in Chinese men. Reprod. Biomed. Online 24: 66-71.
12. Huang M, Wang H, Li J, Zhou Z, et al. (2006). Involvement of ALF in human spermatogenesis and male infertility. Int. J. Mol. Med. 17: 599-604.
13. Ise T, Das S, Nagata S, Maeda H, et al. (2008). Expression of POTE protein in human testis detected by novel monoclonal antibodies. Biochem. Biophys. Res. Commun. 365: 603-608.
14. Jiang ST, Chiou YY, Wang E, Lin HK, et al. (2008). Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. Hum. Mol. Genet. 17: 3368-3379.
15. Jinam TA, Nakaoka H, Hosomichi K, Mitsunaga S, et al. (2013). HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patients. Hum. Genet. 132: 1405-1411.
16. Kurpisz M, Nakonechnyy A, Niepieklo-Miniewska W, Havrylyuk A, et al. (2011). Weak association of anti-sperm antibodies and strong association of familial cryptorchidism/infertility with HLA-DRB1 polymorphisms in prepubertal Ukrainian boys. Reprod. Biol. Endocrinol. 9: 129.
17. Lee C, Iafrate AJ and Brothman AR (2007). Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat. Genet. 39: S48-S54.
18. Martin RH (2008). Cytogenetic determinants of male fertility. Hum. Reprod. Update 14: 379-390.
19. Massart A, Lissens W, Tournaye H and Stouffs K (2012). Genetic causes of spermatogenic failure. Asian J. Androl. 14: 40-48.
20. Matsushime H, Jinno A, Takagi N and Shibuya M (1990). A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis. Mol. Cell Biol. 10: 2261-2268.
21. McLachlan RI and O’Bryan MK (2010). Clinical Review#: State of the art for genetic testing of infertile men. J. Clin. Endocrinol. Metab. 95: 1013-1024.
22. Milisav I, Jones MH and Affara NA (1996). Characterization of a novel human dynein-related gene that is specifically expressed in testis. Mamm. Genome 7: 667-672.
23. Murakami T, Reiter LT and Lupski JR (1997). Genomic structure and expression of the human heme a:farnesyltransferase (COX10) gene. Genomics 42: 161-164.
24. Oral O, Uchida I, Eto K, Nakayama Y, et al. (2008). Promotion of spermatogonial proliferation by neuregulin 1 in newt (Cynops pyrrhogaster) testis. Mech. Dev. 125: 906-917.
25. Redon R, Ishikawa S, Fitch KR, Feuk L, et al. (2006). Global variation in copy number in the human genome. Nature 444: 444-454.
26. Tu XD, Cong XW, Zeng J, Zheng DZ, et al. (2013). Analysis of small supernumerary marker chromosome 15q11 in four infertile males. Zhonghua. Yi. Xue. Yi. Chuan. Xue. Za. Zhi. 30: 539-543.
27. Tuttelmann F, Simoni M, Kliesch S, Ledig S, et al. (2011). Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One 6: e19426.
28. Van Assche E, Bonduelle M, Tournaye H, Joris H, et al. (1996). Cytogenetics of infertile men. Hum. Reprod. 11 (Suppl 4): 1-24, 25-26.
29. van der Ven K, Fimmers R, Engels G, van der Ven H, et al. (2000). Evidence for major histocompatibility complex-mediated effects on spermatogenesis in humans. Hum. Reprod. 15: 189-196.
30. World Health Organization (World Health Organization) (2010). WHO laboratory manual for the examination and processing of human semen. 5th ed. WHO, Geneva.
31. Yang B, Yuan JL, Gao XK, Wang H, et al. (2009). Expression of COX10 in human non-obstructive azoospermia testes. Zhonghua. Nan. Ke. Xue. 15: 599-603.
32. Zhang J, Eto K, Honmyou A, Nakao K, et al. (2011). Neuregulins are essential for spermatogonial proliferation and meiotic initiation in neonatal mouse testis. Development 138: 3159-3168.
33. Zhao H, Xu J, Zhang H, Sun J, et al. (2012). A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia. Am. J. Hum. Genet. 90: 900-906.