Diagnosis of genetic defects through parallel assessment of PLCζ and CAPZA3 in infertile men with history of failed oocyte activation | ||
| Iranian Journal of Basic Medical Sciences | ||
| مقاله 9، دوره 19، شماره 3، خرداد 2016، صفحه 281-289 اصل مقاله (1.18 M) | ||
| نوع مقاله: Original Article | ||
| شناسه دیجیتال (DOI): 10.22038/ijbms.2016.6647 | ||
| نویسندگان | ||
| Soudabeh Javadian-Elyaderani1، 2؛ Kamran Ghaedi3، 4؛ Marziyeh Tavalaee1؛ Farzaneh Rabiee3؛ Mohammad Reza Deemeh1؛ Mohammad Hossein Nasr-Esfahani* 1، 3، 5 | ||
| 1Department of Reproductive Biotechnology, Reproductive Biomedicine Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran | ||
| 2Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran | ||
| 3Department of Molecular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran | ||
| 4Biology Department, School of Sciences, University of Isfahan, Isfahan, Iran | ||
| 5Isfahan Fertility and Infertility Center, Isfahan, Iran | ||
| چکیده | ||
| Objective(s): Phospholipase C ζ (PLCζ) is considered as a nominee for sperm associated oocyte activating factors and is located back-to-back with CAPZA3, an actin-capping protein controlling actin polymerization during spermiogenesis. They contain a common bidirectional promoter. The objective of this study was to identify individuals with parallel low expression of PLCζ and CAPZA3 mRNA, in hope of detecting genetic defects in this bidirectional promoter. Materials and Methods: Semen samples were collected from 24 fertile and 59 infertile individuals with total failed, low and high fertilization rate post intra-cytoplasmic sperm injection (ICSI), as well as globozoospermic individuals.Expression of PLCζ and CAPZA3 were assessed by Real time PCR. In addition, PLCζ was assessed by Western blot. Results: Significant correlations between PLCζ with CAPZA3 and also between these two genes with fertilization were observed. Individuals with low fertilization presented significantly lower expression of these two genes. Low expression of PLCζ was also verified by Western analysis. Sequence analysis of bidirectional promoter of these two genes in an individual with parallel low expression of both PLCζ and CAPZA3, revealed a mutation within the CAPZA3 predicted promoter, known as human regulatory factor X4 which is a testis-specific dimeric DNA-binding protein. In the opposite stand, in the same location, the mutation appears to be outside but in the vicinity of PLCζ, in a binding region predicate by Genomatix. Conclusion: Parallel assessment of CAPZA3 with PLCζ at mRNA level in individuals with inability to induce oocyte activation may help researcher to identify genetic defects associated with failed fertilization. | ||
| کلیدواژهها | ||
| CAPZA3؛ Failed fertilization؛ ICSI؛ Mutation؛ PLCζ؛ Promoter | ||
| مراجع | ||
|
1.Lawrence Y, Whitaker M, Swann K. Sperm-egg fusion is the prelude to the initial Ca2+ increase at fertilization in the mouse. Development 1997; 124: 233-241.
2.Malcuit C, Knott JG, He C, Wainwright T, Parys JB, Robl JM, et al. Fertilization and inositol 1,4,5-trisphosphate (IP3)-induced calcium release in type-1 inositol 1,4,5-trisphosphate receptor down-regulated bovine eggs. Biol Reprod 2005; 73: 2-13.
3.Ozil JP, Swann K. Stimulation of repetitive calcium transients in mouse eggs. J Physiol 1995; 483: 331-346.
4.Swann K, Yu Y. The dynamics of calcium oscillations that activate mammalian eggs. Int J Dev Biol 2008; 52: 585-594.
5.Yu Y, Nomikos M, Theodoridou M, Nounesis G, Lai FA, Swann K. PLCζ causes Ca2+ oscillations in mouse eggs by targeting intracellular and not plasma membrane PI(4,5)P(2). Mol Biol Cell 2012; 23: 371-380.
6.Malcuit C, Kurokawa M, Fissore RA. Calcium oscillations and mammalian egg activation. J Cell Physiol 2006; 206: 565-573.
7.Nomikos M, Elgmati K, Theodoridou M, Calver BL, Cumbes B, Nounesis G, et al. Male infertility-linked point mutation disrupts the Ca2+ oscillation-inducing and PIP(2) hydrolysis activity of sperm PLCζ. Biochem J 2011; 434: 211-217.
8.Parrington J, Lai FA, Swann K. The soluble mammalian sperm factor protein that triggers Ca2+ oscillations in eggs: Evidence for expression of mRNA(s) coding for sperm factor protein(s) in spermatogenic cells. Biol Cell 2000; 92: 267-275.
9.Runft LL, Jaffe LA, Mehlmann LM. Egg activation at fertilization: where it all begins. Dev Biol 2002; 245: 237-254.
10.Kashir J, Deguchi R, Jones C, Coward K, Stricker SA. Comparative biology of sperm factors and fertilization-induced calcium signals across the animal kingdom. Mol Reprod Dev 2013; 80: 787-815.
11.Cox LJ, Larman MG, Saunders CM, Hashimoto K, Swann K, Lai FA. Sperm phospholipase Cζ from humans and cynomolgus monkeys triggers Ca2+ oscillations, activation and development of mouse oocytes. Reproduction 2002; 124: 611-623.
12.Knott JG, Kurokawa M, Fissore RA, Schultz RM, Williams CJ. Transgenic RNA interference reveals role for mouse sperm phospholipase Cζ in triggering Ca2+ oscillations during fertilization. Biol Reprod 2005; 72: 992-996.
13.Kouchi Z, Fukami K, Shikano T, Oda S, Nakamura Y, Takenawa T, et al. Recombinant phospholipase Cζ has high Ca2+ sensitivity and induces Ca2+ oscillations in mouse eggs. J Biol Chem 2004; 279: 10408-10412.
14.Parrington J, Jones ML, Tunwell R, Devader C, Katan M, Swann K. Phospholipase C isoforms in mammalian spermatozoa: potential components of the sperm factor that causes Ca2+ release in eggs. Reproduction 2002; 123: 31-39.
15.Saunders CM, Larman MG, Parrington J, Cox LJ, Royse J, Blayney LM, et al. PLC zeta: a sperm-specific trigger of Ca2+ oscillations in eggs and embryo development. Development 2002; 129: 3533-3544.
16.Aarabi M, Sutovsky P, Oko R. Re: Is PAWP the 'real' sperm factor? Asian J Androl. 2015; 17: 446-9.
17.Wu AT, Sutovsky P, Manandhar G, Xu W, Katayama M, Day BN, et al. PAWP, a sperm-specific WW domain-binding protein, promotes meiotic resumption and pronuclear development during fertilization. J Biol Chem 2007; 282: 12164-12175.
18.Aarabi M, Balakier H, Bashar S, Moskovtsev SI, Sutovsky P, Librach CL, Oko R. Sperm-derived WW domain-binding protein, PAWP, elicits calcium oscillations and oocyte activation in humans and mice. FASEB J. 2014; 28: 4434-40.
19.Aarabi M, Yu Y, Xu W, Tse MY, Pang SC, Yi YJ, et al. The testicular and epididymal expression profile of PLCζ in mouse and human does not support its role as a sperm-borne oocyte activating factor. PLoS One 2012; 7: 1-12.
20.Aghajanpour S, Ghaedi K, Salamian A, Deemeh MR, Tavalaee M, Moshtaghian J, et al. Quantitative expression of phospholipase C zeta, as an index to assess fertilization potential of a semen sample. Hum Reprod 2011; 26: 2950-2956.
21.Heytens E, Parrington J, Coward K, Young C, Lambrecht S, Yoon SY, et al. Reduced amounts and abnormal forms of phospholipase C zeta (PLCzeta) in spermatozoa from infertile men. Hum Reprod 2009; 24: 2417-2428.
22.Kashir J, Jones C, Lee HC, Rietdorf K, Nikiforaki D, Durrans C, et al. Loss of activity mutations in phospholipase C zeta (PLCζ) abolishes calcium oscillatory ability of human recombinant protein in mouse oocytes. Hum Reprod 2011; 26:3372-3387.
23.Kashir J, Konstantinidis M, Jones C, Lemmon B, Lee HC, Hamer R, et al. A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCζ) leads to male infertility. Hum Reprod 2012; 27: 222-231.
24.Yoon SY, Jellerette T, Salicioni AM, Lee HC, Yoo MS, Coward K, et al. Human sperm devoid of PLC zeta 1 fail to induce Ca2+ release and are unable to initiate the first step of embryo development. J Clin Invest 2008; 118:3671-3681.
25.Nasr-Esfahani MH, Deemeh MR, Tavalaee M. Artificial oocyte activation and intracytoplasmic sperm injection. Fertil Steril 2009; 94: 520-526.
26.Nasr-Esfahani MH, Tavalaee M, Deemeh MR, Arbabian M, Parrington J. Can assessment of total acrosin activity help predict failed or low fertilization rate ICSI for implementation of artificial oocyte activation? The Open Andrology Journal 2010; 2: 19-26.
27.Yoon SY, Eum JH, Lee JE, Lee HC, Kim YS, Han JE, et al. Recombinant human phospholipase C zeta 1 induces intracellular calcium oscillations and oocyte activation in mouse and human oocytes. Hum Reprod 2012; 27: 1768-1780.
28.Kashir J, Jones C, Mounce G, Ramadan WM, Lemmon B, Heindryckx B, et al. Variance in total levels of phospholipase C zeta (PLC-ζ) in human sperm may limit the applicability of quantitative immunofluorescent analysis as a diagnostic indicator of oocyte activation capability. Fertil Steril 2013; 99: 107-117.
29.Coward K, Ponting CP, Chang HY, Hibbitt O, Savolainen P, Jones KT, et al. Phospholipase C zeta, the trigger of egg activation in mammals, is present in a non-mammalian species. Reproduction 2005; 130: 157-163.
30.Hurst S, Howes EA, Coadwell J, Jones R. Expression of a testis-specific putative actin-capping protein associated with the developing acrosome during rat spermiogenesis. Mol Reprod Dev 1998; 49: 81-91
31.Miyagawa Y, Tanaka H, Iguchi N, Kitamura K, Nakamura Y, Takahashi T, et al. Molecular cloning and characterization of the human orthologue of male germ cell-specific actin capping protein alpha3 (cpalpha3). Mol Hum Reprod 2002; 8: 531-539.
32.Valentin M, Balvers M, Pusch W, Weinbauer GF, Knudsen J, Ivell R. Structure and expression of the mouse gene encoding the endozepine-like peptide from haploid male germ cells. Eur J Biochem 2000; 267: 5438-5449.
33.Vanin EF. Processed pseudogenes: characteristics and evolution. Ann Rev Genet 1985; 19: 253-272.
34.Kierszenbaum AL, Tres LL. Structural and transcriptional features of the mouse spermatid genome. J Cell Biol 1975; 65: 258-270.
35.Monesi V. Synthetic activities during spermatogenesis in the mouse RNA and protein. Exp Cell Res 1965; 39: 197-224.
36.Sosnik J, Buffone MG, Visconti PE. Analysis of CAPZA3 localization reveals temporally discrete events during the acrosome reaction. J Cell Physiol 2010; 224: 575-580.
37.Tokuhiro K, Miyagawa Y, Tanaka H. Characterizing mouse male germ cell-specific actin capping protein alpha3 (CPalpha3): dynamic patterns of expression in testicular and epididymal sperm. Asian J Androl 2008; 10: 711-718.
38.Brener E, Rubinstein S, Cohen G, Shternall K, Rivlin J, Breitbart H. Remodeling of the actin cytoskeleton during mammalian sperm capacitation and acrosome reaction. Biol Reprod 2003; 68: 837-845.
39.Breitbart H, Cohen G, Rubinstein S. Role of actin cytoskeleton in mammalian sperm capacitation and the acrosome reaction. Reprod 2005; 129: 263-268.
40.Dvoráková K, Moore HD, Sebková N, Palecek J. Cytoskeleton localization in the sperm head prior to fertilization. Reproduction 2005; 130: 61-69.
41.Howes EA, Hurst SM, Jones R. Actin and actin-binding proteins in bovine spermatozoa: potential role in membrane remodeling and intracellular signaling during epididymal maturation and the acrosome reaction. J Androl 2001; 22: 62-72.
42.WHO. WHO laboratory manual for the examination and processing of human semen. Fifth edition, World Health Organization. WHO Press, Geneva, Switzerland. 2010.
43.Montag M, Köster M, van der Ven K, Bohlen U, van der Ven H. The benefit of artificial oocyte activation is dependent on the fertilization rate in a previous treatment cycle. Reprod Biomed Online 2012; 24:521-526.
44.Ebner T, Montag M, Van der Ven K, Shebl O, Oppelt P. Live birth after artificial oocyte activation using a ready-to-use ionophore: a prospective multicentre study. Reprod Biomed Online 2015; 30:359-365.
45.Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 2001; 25: 402–408.
46.Vaerman JL, Saussoy P, Ingargiola I. Evaluation of real-time PCR data. J Biol Regul Homeost Agents 2004; 18: 212–214.
47.Kashir J, Nomikos M, Swann K, Lai FA. PLCζ or PAWP: revisiting the putative mammalian sperm factor that triggers egg activation and embryogenesis. Mol Hum Reprod 2015; 21:383-388.
48.Geyer CB, Inselman AL, Sunman JA, Bornstein S, Handel MA, Eddy EM. A Missense Mutation in the Capza3 Gene and Disruption of F-actin Organization in Spermatids of repro32 Infertile Male Mice. Dev Biol 2009; 330: 142–152.
49.Kuentz P, Vanden Meerschaut F, Elinati E, Nasr-Esfahani MH, Gurgan T, Iqbal N, et al. Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status. Hum Reprod 2013; 28: 1054-1061.
50.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: 332–336.
51.Stone S, Mahony FO, Khalaf Y, Taylor A, Braude P. A normal livebirth after intracytoplasmic sperm injection for globozoospermia without assisted oocyte activation. Hum Reprod 2000; 15: 139-141.
52.Morotomi-Yano K, Yano K, Saito H, lwama A, Miki Y. Human regulatory factor X 4 (RFX4) is a testis-specific dimeric DNA-binding protein that cooperates with other human RFX members. J Biol Chem 2002; 277: 836-842. | ||
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