Association between CPEB1 gene polymorphism and Iranian male infertility

YadollahyKhaless, Atefe; Kalhor, Naser; Atri Roozbahani, Golnaz

Volume 25, Issue 8 (Oct 2017) JSSU 2017, 25(8): 612-620 | Back to browse issues page

Mendeley

Zotero

RefWorks

YadollahyKhaless A, Kalhor N, Atri Roozbahani G. Association between CPEB1 gene polymorphism and Iranian male infertility . JSSU 2017; 25 (8) :612-620
URL: http://jssu.ssu.ac.ir/article-1-4090-en.html

Association between CPEB1 gene polymorphism and Iranian male infertility

Atefe YadollahyKhaless ^*

, Naser Kalhor

, Golnaz Atri Roozbahani

Abstract: (4145 Views)

Introduction: Spermatogenesis is a strictly regulated process in sperm production that is needed for
sperm production transcriptional and posttranscriptional regulations. The cytoplasmic polyadenylation element binding (CPEB) protein regulates cytoplasmic polyadenylation of mRNAs in oogenesis and spermatogenesis. The purpose of the present studywas examining the association between rs2303846, which is located at 3'UTR of CPEB gene, and Iranian male infertility.
Methods: In this case–control analysis, 140 blood samples were collected (70 fertile men and 70 infertile men). rs2303846 genotypes were determined by PCR-RFLP method and the results were confirmed by sequencing. The differences in genotype distributions between cases and fertile controls were examined using Chi-squared analysis and SNPSTAT software. Corelation between this SNP and miRNAs was examined.
Results: TT genotype was observed in 5 infertile men among 70 case samples, while all control samples showed CC genotype and there was a significant association in this difference (P= 0.023). This SNP exist in seed region of three miRNAs (hsa-miR-143-5p, hsa-miR- 6511b-5p, hsa-miR-3944-5p) and T allele causes seed destruction. In addition, T allele leads to the loose binding of all the selected miRNAs.
Conclusion: Our results indicate that rs2303846, which is located on CPEB1 is associated with the risk of infertility in Iranian population. Our bioinformatics analysis showed that changing the T allele of rs2303846, instead of C allele could loose miRNA binding to their target genes in our selected miRNAs. Consequently, the gene is stable and its expression continues.

Keywords: Male Infertility, Single nucleotid polymorphism, CPEB1 gene

Full-Text [PDF 654 kb] (1267 Downloads)

Type of Study: Original article | Subject: Genetics
Received: 2017/01/29 | Accepted: 2017/07/29 | Published: 2017/12/3

References

2. Karamzade A, Mirzapour H, Kheirollahi M. Genetics Aspects of Male Infertility. Isfahan Medical School 2013; 31(246): 1149-62.

3. Modarressi MH, Eghbali M. RNAs in Mature Spermatozoa. Razi J Med Sci 2013; 20(109): 1-11.

4. De Moor C H, Meijer H, Lissenden S. Mechanisms of translational control by the 3' UTR in development and differentiation. Semin Cell Dev Biol 2005; 16(1): 49-58.

5. Hayashi K, Chuva de Sousa Lopes SM, KanedaM, Tang F, Hajkova P, Lao K, et al. MicroRNA biogenesis is required for mouse primordial germ cell development and spermatogenesis. PLoS One 2008; 3(3): e1738.

6. Cheng Wang, Junjun Wang, Cuihua Yang, Xiaojun Li, Xi Chen, Yong Shao, et al. Altered Profile of Seminal Plasma MicroRNAs in the Molecular Diagnosis of Male Infertility. Molecular Diagnostics and Genetics 2011; 57(12): 1722-31.

7. Lu J, Gu H, Tang Q, Wu W, Yuan B, Guo D, et al. Common SNP in hsa-miR-196a-2 increases hsa-miR-196a-5p expression and predisposes to idiopathic male infertility in Chinese Han population. Scientific Reports 2016; 6: 19825.

8. Ogorevc J, Dovc P, Kunej T. Polymorphisms In Microrna Targets: A Source Of New Molecular Markers For Male Reproduction. Andrology 2011; 13(3): 505-8.

9. Chen K, Rajewsky N. Natural selection on human microRNA binding sites inferred from SNP data. NATURE GENETICS 2006; 38(12): 1452-6.

10. Bava FA, Eliscovich C, Ferreira PG, Minana B, Ben-Dov C, Guigo R, Mendez R. CPEB1 coordinates alternative 3'-UTR formation with translational regulation. Nature 2013; 495(7439): 121-5.

11. Piccioni F, Zappavigna V, Verrotti AC. Translational regulation during oogenesis and early development: The cap-poly (A) tail relationship. C. R 2005; 328(10-11): 863-81.

12. Charlesworth A, Meijer HA, de Moor CH. Specificity Factors In Cytoplasmic Polyadenylation. Wires RNA 2013; 4(4): 437-61.

13. Tay J, Richter JD.Germ Cell Differentiation and Synaptonemal Complex Formation Are Disrupted in CPEB Knockout Mice. Developmental Cell 2001; 1(2): 201-13.

14. Simon R, Tassan JP, Richter JD. Translational control by poly(A) elongation during Xenopus development: differential repression and enhancement by a novel cytoplasmic polyadenylation element. Genes Dev 1992; 6(12): 2580-91.

15. Mendez R, Richter JD. Translational Control By Cpeb:A Means To The End. Molecular Cell Biology 2001; 2(7): 521-9.

16. Morgan M, Iaconcig A, Muro AF. Cpeb2, Cpeb3 And Cpeb4 Are Coordinately Regulated By Mirnas Recognizing Conserved Binding Sites In Paralog Positions Of Their 30-UTRS. Nucleic Acids Res 2010; 38(21): 7698-710.

17. Zhang H, Liu Y, Su D, Yang Y, Bai G, Tao D, et al. A Single Nucleotide Polymorphism In A Mir-1302 Binding Site In Cga Increases The Risk Of Idiopathic Male Infertility. Fertility and Sterility 2011; 96(1): 34-39.

18. Rehmsmeier M, Steffen P, Hochsmann M, Giegerich R. Fast and effective prediction of microRNA/target duplexes. Cold Spring Harbor Laboratory Press 2004; 10(10): 1507-17.