Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia.
AURKC
Egypt
ICSI
macrozoospermia
mutation
Journal
Andrologia
ISSN: 1439-0272
Titre abrégé: Andrologia
Pays: Germany
ID NLM: 0423506
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
15
01
2020
revised:
16
03
2020
accepted:
07
04
2020
pubmed:
14
5
2020
medline:
22
6
2021
entrez:
14
5
2020
Statut:
ppublish
Résumé
Macrozoospermia is a rare syndrome. The key marker of the disease is a high percentage of spermatozoa with abnormal phenotypes namely enlarged head and multiple tails. The presence of at least 70% of spermatozoa with a large head is usually associated with Aurora kinase C gene (AURKC) mutations. We sought to assess AURKC as a potential genetic actor of macrozoospermia in a sample of infertile Egyptian men. We recruited 30 patients and conducted a clinical examination, semen analysis, and DNA sequencing and RFLP for AURKC. We diagnosed 17 patients with characteristic macrozoospermia and classified them into eight severe and nine mild cases. We detected genetic variants of AURKC in five patients (29.4%): Three patients with severe macrozoospermia had c.144delC mutations in exon 3 (37.5% of the severe), and two mild cases had c.1157G>A polymorphism in the 3' UTR (22.2% of the mild). A successful intracytoplasmic sperm injection (ICSI) was achieved only with a severe macrozoospermia patient without apparent AURKC mutation. The present study is the first report to link macrozoospermia and AURKC mutations in Egypt. The study recommends macrozoospermia patients to perform AURKC gene analysis and attempt ICSI, even those with a high percentage of large head spermatozoa.
Substances chimiques
AURKC protein, human
EC 2.7.11.1
Aurora Kinase C
EC 2.7.11.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e13619Subventions
Organisme : National Research Centre
ID : 8/2/13
Informations de copyright
© 2020 Blackwell Verlag GmbH.
Références
Achard, V., Paulmyer-Lacroix, O., Mercier, G., Porcu, G., Saias-Magnan, J., Metzler-Guillemain, C., & Guichaoua, M. R. (2007). Reproductive failure in patients with various percentages of macronuclear spermatozoa: High level of aneuploid and polyploid spermatozoa. Journal of Andrology, 28, 600-606. https://doi.org/10.2164/jandrol.106.001933
Barr, A. R., & Gergely, F. (2007). Aurora-A: The maker and breaker of spindle poles. Journal of Cell Science, 120, 2987-2996. https://doi.org/10.1242/jcs.013136
Ben Khelifa, M., Coutton, C., Blum, M. G. B., Abada, F., Harbuz, R., Zouari, R., … Ray, P. F. (2012). Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia. Human Reproduction, 27, 3337-3346. https://doi.org/10.1093/humrep/des296
Ben Khelifa, M., Zouari, R., Harbuz, R., Halouani, L., Arnoult, C., Lunardi, J., & Ray, P. F. (2011). A new AURKC mutation causing macrozoospermia: Implications for human spermatogenesis and clinical diagnosis. Molecular Human Reproduction, 17, 762-768. https://doi.org/10.1093/molehr/gar050
Carmena, M., & Earnshaw, W. C. (2003). The cellular geography of aurora kinases. Nature Reviews Molecular Cell Biology, 4, 842-854. https://doi.org/10.1038/nrm1245
Carmena, M., Ruchaud, S., & Earnshaw, W. C. (2009). Making the Auroras glow: Regulation of Aurora A and B kinase function by interacting proteins. Current Opinion in Cell Biology, 21, 796-805. https://doi.org/10.1016/j.ceb.2009.09.008
Carmena, M., Wheelock, M., Funabiki, H., & Earnshaw, W. C. (2012). The chromosomal passenger complex (CPC): From easy rider to the godfather of mitosis. Nature Reviews Molecular Cell Biology, 13, 789-803. https://doi.org/10.1038/nrm3474
Carmignac, V., Dupont, J. M., Fierro, R. C., Barberet, J., Bruno, C., Lieury, N., … Fauque, P. (2017). Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia. Andrology, 5, 370-380. https://doi.org/10.1111/andr.12311
Coutton, C., Escoffier, J., Martinez, G., Arnoult, C., & Ray, P. F. (2015). Teratozoospermia: Spotlight on the main genetic actors in the human. Human Reproduction Update, 21, 455-485. https://doi.org/10.1093/humupd/dmv020
De Braekeleer, M., Nguyen, M. H., Morel, F., & Perrin, A. (2015). Genetic aspects of monomorphic teratozoospermia: A review. Journal of Assisted Reproduction and Genetics, 32, 615-623. https://doi.org/10.1007/s10815-015-0433-2
Dieterich, K., Soto Rifo, R., Faure, A. K., Hennebicq, S., Ben Amar, B., Zahi, M., … Ray, P. F. (2007). Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nature Genetics, 39, 661-665. https://doi.org/10.1038/ng2027
Dieterich, K., Zouari, R., Harbuz, R., Vialard, F., Martinez, D., Bellayou, H., … Ray, P. F. (2009). The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Human Molecular Genetics, 18, 1301-1309. https://doi.org/10.1093/hmg/ddp029
El Kerch, F., Lamzouri, A., Laarabi, F. Z., Zahi, M., Ben Amar, B., & Sefiani, A. (2011). [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]. Journal de Gynécologie Obstétrique et Biologie de la Reproduction, 40, 329-333.
Eloualid, A., Rouba, H., Rhaissi, H., Barakat, A., Louanjli, N., Bashamboo, A., & McElreavey, K. (2014). Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men. Fertility and Sterility, 101, 1086-1090. https://doi.org/10.1016/j.fertnstert.2013.12.040
Fellmeth, J. E., Ghanaim, E. M., & Schindler, K. (2016). Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system. Human Molecular Genetics, 25, 2698-2711. https://doi.org/10.1093/hmg/ddw128
Ghedir, H., Gribaa, M., Mamai, O., Ben Charfeddine, I., Braham, A., Amara, A., … Ibala-Romdhane, S. (2015). Macrozoospermia: Screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population. Journal of Assisted Reproduction and Genetics, 32, 1651-1658. https://doi.org/10.1007/s10815-015-0565-4
Guichaoua, M. R., Mercier, G., Geoffroy-Siraudin, C., Paulmyer-Lacroix, O., Lanteaume, A., Metzler-Guillemin, C., … Achard, V. (2009). [Macrocephalic spermatozoa. What would be the impact on reproduction?] Gynécologie, Obstétrique & Fertilité, 37, 703-711.
Guthauser, B., Albert, M., Ferfouri, F., Ray, P. F., Rabiey, G., Selva, J., & Vialard, F. (2011). Inverse correlation between chromatin condensation and sperm head size in a case of enlarged sperm heads. Reproductive BioMedicine Online, 23, 711-716. https://doi.org/10.1016/j.rbmo.2011.07.011
Guthauser, B., Pollet-Villard, X., Boitrelle, F., & Vialard, F. (2016). Is intracouple assisted reproductive technology an option for men with large-headed spermatozoa? A literature review and a decision guide proposal. Basic and Clinical Andrology, 26, 8. https://doi.org/10.1186/s12610-016-0035-6
Hamada, A., Agarwal, A., Sharma, R., French, D. B., Ragheb, A., & Sabanegh, E. S. Jr (2011). Empirical treatment of low-level leukocytospermia with doxycycline in male infertility patients. Urology, 78, 1320-1325. https://doi.org/10.1016/j.urology.2011.08.062
Harbuz, R., Zouari, R., Dieterich, K., Nikas, Y., Lunardi, J., Hennebicq, S., & Ray, P. F. (2009). [Function of aurora kinase C (AURKC) in human reproduction]. Gynécologie, Obstétrique & Fertilité, 37, 546-551.
Hua, J., & Wan, Y. Y. (2019). Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia. Journal of Assisted Reproduction and Genetics, 36, 529-534. https://doi.org/10.1007/s10815-018-1374-3
Kahraman, S., Akarsu, C., Cengiz, G., Dirican, K., Sozen, E., Can, B., … Vanderzwalmen, P. (1999). Fertility of ejaculated and testicular megalohead spermatozoa with intracytoplasmic sperm injection. Human Reproduction, 14, 726-730. https://doi.org/10.1093/humrep/14.3.726
Lampson, M. A., Renduchitala, K., Khodjakov, A., & Kapoor, T. M. (2004). Correcting improper chromosome-spindle attachments during cell division. Nature Cell Biology, 6, 232-237. https://doi.org/10.1038/ncb1102
Ma, D. D., Wang, D. H., & Yang, W. X. (2017). Kinesins in spermatogenesis. Biology of Reproduction, 96, 267-276. https://doi.org/10.1095/biolreprod.116.144113
Matzuk, M. M., & Lamb, D. J. (2008). The biology of infertility: Research advances and clinical challenges. Nature Medicine, 14, 1197-1213. https://doi.org/10.1038/nm.f.1895
Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215. https://doi.org/10.1093/nar/16.3.1215
Molinari, E., Mirabelli, M., Raimondo, S., Brussino, A., Gennarelli, G., Bongioanni, F., & Revelli, A. (2013). Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage. Reprod Biomed Online, 26, 148-156. https://doi.org/10.1016/j.rbmo.2012.11.004
Mortimer, D. (2000). Sperm preparation methods. Journal of Andrology, 21, 357-366.
Papaioannou, M. D., & Nef, S. (2010). microRNAs in the testis: Building up male fertility. Journal of Andrology, 31, 26-33. https://doi.org/10.2164/jandrol.109.008128
Ray, P. F., Ounis, L., Zoghmar, A., Coutton, C., Rouabah, L., Hachemi, M., … Rouabah, A. (2015). Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men. Asian J Androl, 17, 68-73. https://doi.org/10.4103/1008-682X.136441
Shimizu, Y., Kiumura, F., Kaku, S., Izuno, M., Tomita, K., Thumkeo, D., & Murakami, T. (2012). Successful delivery following ICSI with macrocephalic sperm head syndrome: A case report. Reprod Biomed Online, 24, 603-605. https://doi.org/10.1016/j.rbmo.2012.02.022
Tang, C. J., Lin, C. Y., & Tang, T. K. (2006). Dynamic localization and functional implications of Aurora-C kinase during male mouse meiosis. Developmental Biology, 290, 398-410. https://doi.org/10.1016/j.ydbio.2005.11.036
Viville, S., Mollard, R., Bach, M. L., Falquet, C., Gerlinger, P., & Warter, S. (2000). Do morphological anomalies reflect chromosomal aneuploidies? Case report. Human Reproduction, 15, 2563-2566. https://doi.org/10.1093/humrep/15.12.2563
WHO (2010). WHO laboratory manual for the examination and processing of human semen (5th ed.). World Health Organization Department of Reproductive Health and Research. Retrieved from http://wwwwhoint/reproductivehealth/publications/infertility/9789241547789/en/
Yao, L. J., Zhong, Z. S., Zhang, L. S., Chen, D. Y., Schatten, H., & Sun, Q. Y. (2004). Aurora-A is a critical regulator of microtubule assembly and nuclear activity in mouse oocytes, fertilized eggs, and early embryos. Biology of Reproduction, 70, 1392-1399.
Zorrilla, M., & Yatsenko, A. N. (2013). The genetics of infertility: Current status of the field. Current Genetic Medicine Reports, 1, 247-260. https://doi.org/10.1007/s40142-013-0027-1