SCREENING FOR THE HOMOZYGOUS C.144DELC MUTATION IN AURKC GENE IN ALGERIAN INFERTILE MEN

Authors

  • Rezgoune Mohamed Larbi Laboratory of Molecular and Cellular Biology, University Constantine I, Constantine, Algeria.
  • Chellat Djalila Laboratory of Molecular and Cellular Biology, University Constantine I, Constantine, Algeria.
  • Abadi Noureddine Laboratory of Biology and Molecular Genetic, University Hospital Center IBN-Badis, University Constantine III, Constantine, Algeria.
  • Satta Dalila Laboratory of Biology and Molecular Genetic, University Hospital Center IBN-Badis, University Constantine III, Constantine, Algeria.

DOI:

https://doi.org/10.22159/ajpcr.2018.v11i2.22783

Keywords:

AURKC, c144delC mutation, Male infertility, Sequencing, Algerian patients

Abstract

 Objective: Male infertility is a major health problem worldwide. Despite recent advances, the etiopathogenesis of spermatogenic failure remains largely uncertain. Aurora kinases, a family of serine/threonine kinases, consisting of Aurora A (AURKA), Aurora B (AURKB), and Aurora C (AURKC), are essential kinases for cell division through regulating mitosis and meiosis. The aim of this study was to investigate the frequency of c.144delC mutation in AURKC gene in infertile Algerian patients with abnormal sperm parameters.

Methods: In this study, 40 infertile men with impaired spermatogenesis (Azoospermia AZOs,â€â€ oligoasthenoteratospermia OATs,â€â€ Asthenospermia ASTsâ€) were recruited from Ibn Rochd clinic and Ibn Sina Laboratory, between 2008 and 2014. All men were of Algerian origin. DNA was extracted from peripheral blood. The third exon of the AURKC gene was amplified using polymerase chain reaction (PCR). Then, PCR products were sequenced using the big dye V1.1 terminator cycle sequencing in forward and reverse directions, and the results of sequenced segments were analyzed.

Results: Sequencing of the third exon of AURKC gene revealed the absence of c144delC mutation in all of the 40 patients screened.

Conclusion: Our data indicate that the AURKC c.144delC mutation must be investigated in infertile men with Macrozoospermia.

Downloads

Download data is not yet available.

Author Biography

Rezgoune Mohamed Larbi, Laboratory of Molecular and Cellular Biology, University Constantine I, Constantine, Algeria.

DEPARTEMENT DE BIOLOGIE ANIMALE

References

Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol 2015;13:37.

Takeda T, Iwatsuki S, Hamakawa T, Mizuno K, Kamiya H, Umemoto Y, et al. Chromosomal anomalies and sperm retrieval outcomes of patients with non-obstructive azoospermia: A case series. Andrology 2017;5:473-6.

Dada R, Kumar M, Jesudasan R, Fernández JL, Gosálvez J, Agarwal A. Epigenetics and its role in male infertility. J Assist Reprod Genet 2012;29:213-23.

Sherzay N, Chitakar E. Epigenetics: Effect of environmental factors on human genome. Int J Pharm Pharm Sci 2016;8:1-6.

Vaghasia K, Shah ND, Shah PS, Bhatt VM, Shah SC, Rao MV. Karyotypic analysis of chromosomal polymorphism in relation to reproductive failure. Int J Pharm Pharm Sci 2017;9:140-3.

Plaseska-Karanfilska D, Noveski P, Plaseski T, Maleva I, Madjunkova S, Moneva Z. Association of the AURKA and AURKC gene polymorphisms with an increased risk of gastric cancer association of the AURKA and AURKC gene polymorphisms with an increased risk of gastric cancer. Balkan J Med Genet 2012;15:31-4.

Stouffs K, Seneca S, Lissens W. Genetic causes of male infertility. Ann Endocrinol 2014;75:109-11.

Ramgir S, Abilash VG. Genetic and environmental factors involved in human male infertility: A review. Asian J Pharm Clin Res 2015;8:34-3.

Halder A, Kumar P, Jain M, Kalsi AK. Genomics: Tool to predict and prevent male infertility. Front Biosci (Sch Ed) 2017;9:448-508.

Dieterich K, Rifo RS, Faure AK, Hennebicq S, Amar BB, Zahi M, et al. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet 2007;39:661-5.

Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, et al. The aurora kinase C c.144delC mutation causes Meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet 2009;18:1301-9.

Mesic A, Rogar M, Hudler P, Juvan R, Komel R. Association of the AURKA and AURKC Gene polymorphisms with an increased risk of

gastric cancer. IUBMB Life 2016;68:634-44.

Kimura M, Matsuda Y, Yoshioka T, Okano Y. Cell cycle-dependent expression and centrosome localization of a third human aurora/ipl1-related protein kinase, AIK3. J Biol Chem 1999;274:7334-40.

Carmena M, Earnshaw WC. The cellular geography of aurora kinases. Nat Rev Mol Cell Biol 2003;4:842-54.

Yan X, Cao L, Li Q, Wu Y, Zhang H, Saiyin H, et al. Aurora C is directly associated with survivin and required for cytokinesis. Genes Cells 2005;10:617-26.

Bernard M, Sanseau P, Henry C, Couturier A, Prigent C. Cloning of STK13, a third human protein kinase related to Drosophila aurora and budding yeast Ipl1 that maps on chromosome 19q13.3-ter. Genomics 1998;53:406-9.

Tang CJ, Lin CY, Tang TK. Dynamic localization and functional implications of Aurora-C kinase during male mouse meiosis. Dev Biol 2006;290:398-410.

Tang A, Gao K, Chu L, Zhang R, Yang J, Zheng J, et al. Aurora kinases: Novel therapy targets in cancers. Oncotarget 2017;8:23937-54.

Avo Santos M, van de Werken C, de Vries M, Jahr H, Vromans MJ, Laven JS, et al. A role for Aurora C in the chromosomal passenger complex during human preimplantation embryo development. Hum Reprod 2011;26:1868-81.

Fellmeth JE, Gordon D, Robins CE, Scott RT Jr, Treff NR, Schindler K. Expression and characterization of three Aurora kinase C splice variants found in human oocytes. Mol Hum Reprod 2015;21:633-44.

Ben Khelifa M, Zouari R, Harbuz R, Halouani L, Arnoult C, Lunardi J, et al. A new AURKC mutation causing macrozoospermia: Implications for human spermatogenesis and clinical diagnosis. Mol Hum Reprod 2011;17:762-8.

El Kerch F, Lamzouri A, Laarabi FZ, Zahi M, Ben Amar B, Sefiani A. Confirmation of the high prevalence in Morocco of the homozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa. J Gynecol Obstet Biol Reprod (Paris) 2011;40:329-33.

Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, et al. Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia. Hum Reprod 2012;27:3337-46.

Eloualid A, Rouba H, Rhaissi H, Barakat A, Louanjli N, Bashamboo A, et al. Prevalence of the aurora kinase C c.144delC mutation in infertile Moroccan men. Fertil Steril 2014;101:1086-90.

Ghédir H, Gribaa M, Mamaî O, Ben Charfeddine I, Braham A, Amara A, et al. Macrozoospermia: Screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population. J Assist Reprod Genet 2015;32:1651-8.

Molinari E, Mirabelli M, Raimondo S, Brussino A, Gennarelli G, Bongioanni F, et al. Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage. Reprod Biomed Online 2013;26:148-56.

Ounis L, Zoghmar A, Coutton C, Rouabah L, Hachemi M, Martinez D, et al. Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men. Asian J Androl 2015;17:68-73.

Chianese C, Fino MG, Riera Escamilla A, López Rodrigo O, Vinci S, Guarducci E, et al. Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia. Andrology 2015;3:203-12.

Carmignac V, Dupont JM, Fierro RC, Barberet J, Bruno C, Lieury N, et al. Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia. Andrology 2017;5:370-80.

Published

01-02-2018

How to Cite

Mohamed Larbi, R., C. Djalila, A. Noureddine, and S. Dalila. “SCREENING FOR THE HOMOZYGOUS C.144DELC MUTATION IN AURKC GENE IN ALGERIAN INFERTILE MEN”. Asian Journal of Pharmaceutical and Clinical Research, vol. 11, no. 2, Feb. 2018, pp. 161-3, doi:10.22159/ajpcr.2018.v11i2.22783.

Issue

Section

Original Article(s)