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
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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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