A HOMOZYGOUS DELETION OF THE DPY19L2 GENE IS A CAUSE OF GLOBOZOOSPERMIA IN MEN FROM THE REPUBLIC OF MACEDONIA
Noveski P1, Madjunkova S1, Maleva I1, Sotiroska V2, Petanovski Z2, Plaseska-Karanfilska D1,*
*Corresponding Author: Professor Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Av. Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3235-410; Fax: +389-2-3115-434; E-mail: dijana@manu.edu.mk
page: 73

REFERENCES

1. P errin A, Coat C, Nguyen MH, Talagas M, Morel F, Amice J, et al. Molecular cytogenetic and genetic aspects of globozoospermia: a review. Andrologia. 2013; 45(1): 1-9. 2. Florke-Gerloff S, Topfer-Petersen E, Muller-Esterl W, Mansouri A, Schatz R, Schirren C, et al. Biochemical and genetic investigation of roundheaded spermatozoa in infertile men including two brothers and their father. Andrologia. 1984; 16(3): 187-202. 3. Carrell DT, Emery BR, Liu L. Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. Fertil Steril. 1999; 71(3): 511-516. 4. Kilani Z, Ismail R, Ghunaim S, Mohamed H, Hughes D, Brewis I, et al. Evaluation and treatment of familial globozoospermia in five brothers. Fertil Steril. 2004; 82(5): 1436-1439. 5. Dirican EK, Isik A, Vicdan K, Sozen E, Suludere Z. Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report. Asian J Androl. 2008; 10(2): 332-336. 6. Christensen GL, Ivanov IP, Atkins JF, Campbell B, Carrell DT. Identification of polymorphisms in the Hrb, GOPC, and Csnk2a2 genes in two men with globozoo-spermia. J Androl. 2006; 27(1): 11-15. 7. Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, et al. Homozygous mutation in SPATA 16 is associated with male infertility in human globozoospermia. Am J Hum Genet. 2007; 81(4): 813-820. 8. Liu G, Shi QW, Lu GX. A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl. 2010; 12(4): 556-560. 9. Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA. Globozoospermia revisited. Hum Reprod Update. 2007; 13(1): 63-75. 10. Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, et al. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet. 2011; 88(3): 344-350. 11. Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011; 88(3): 351-361. 12. E linati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, et al. Globozoospermia is mainly due to DPY19L2 deletion via nonallelic homologous recombination involving two recombination hotspots. Hum Mol Genet. 2012; 21(16): 3695-3702. 13. Zhu F, Gong F, Lin G, Lu G. DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. Mol Hum Reprod. 2013; 19(6): 395-404. 14. Koressaar T, Remm M. Enhancements and modifications of primer design program Primer3. Bioinformatics. 2007; 23(10): 1289-1291. 15. S ahu B, Ozturk O, Serhal P. Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI. J Obstet Gynaecol. 2010; 30(8): 869-870. 16. Rybouchkin A, Dozortsev D, Pelinck MJ, De Sutter P, Dhont M. Analysis of the oocyte activating capacity and chromosomal complement of round-headed human spermatozoa by their injection into mouse oocytes. Hum Reprod. 1996; 11(10): 2170-2175. 17. Kuentz P, Vanden Meerschaut F, Elinati E, Nasr- Esfahani MH, Gurgan T, Iqbal N, et al. Assisted oocyte activation overcomes fertilization failure in globozoosper-mic patients regardless of the DPY19L2 status. Hum Reprod. 2013; 28(4): 1054-1061.



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