Association of polymorphisms in microRNA machinery genes (DROSHA, DICER1, RAN, and XPO5) with risk of idiopathic primary ovarian insufficiency in Korean women

Menopause

Volumn 20, Issue 10, 2013, Pages 1067-1073

  Rah, Hyungchul ^a,b   Jeon, Young Joo ^a,b   Lee, Bo Eun ^a,b   Kim, Jung O ^a,b   Shim, Sung Han ^a,b   Lee, Woo Sik ^b   Choi, Dong Hee ^b   Kim, Ji Hyang ^b   Kim, Nam Keun ^a,b  

^a CHA Stem Cell Institute   (South Korea)

^b CHA University   (South Korea)

Author keywords

MicroRNA; MicroRNA machinery; Premature ovarian failure; Primary ovarian insufficiency; Single nucleotide polymorphism

Indexed keywords

DICER; DICER1 PROTEIN; DROSHA PROTEIN; EXPORTIN 5; MEMBRANE PROTEIN; MICRORNA; RAN PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BIOGENESIS; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPE; HORMONE DETERMINATION; HUMAN; IDIOPATHIC DISEASE; KOREA; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PREMATURE OVARIAN FAILURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; DEAD-BOX RNA HELICASES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; KARYOPHERINS; MICRORNAS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIMARY OVARIAN INSUFFICIENCY; RAN GTP-BINDING PROTEIN; REPUBLIC OF KOREA; RIBONUCLEASE III;

EID: 84885184580     PISSN: 10723714     EISSN: 15300374     Source Type: Journal    
DOI: 10.1097/GME.0b013e3182883907     Document Type: Article

References (64)

1. Rebar RW, Connolly HV. Clinical features of young women with hypergonadotropic amenorrhea. Fertil Steril 1990;53: 804-810.
2. Conway GS. Premature ovarian failure. Br Med Bull 2000;56: 643-649.
3. Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med 2009;360: 606-614.
4. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol 1986;67: 604-606.
5. Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med 2008;14: 1197-1213.
6. Otsuka M, Zheng M, Hayashi M, et al. Impaired microRNA processing causes corpus luteum insufficiency and infertility in mice. J Clin Invest 2008;118: 1944-1954.
7. Luense LJ, Carletti MZ, Christenson LK. Role of Dicer in female fertility. Trends Endocrinol Metab 2009;20: 265-272.
8. Christenson LK. MicroRNA control of ovarian function. Anim Reprod 2010;7: 129-133.
9. Hawkins SM, Matzuk MM. OocyteYsomatic cell communication and microRNA function in the ovary. Ann Endocrinol (Paris) 2010; 71: 144-148.
10. Lei L, Jin S, Gonzalez G, Behringer RR, Woodruff TK. The regulatory role of Dicer in folliculogenesis in mice. Mol Cell Endocrinol 2010; 315: 63-73.
11. Tripurani SK, Lee KB, Wee G, Smith GW, Yao J. MicroRNA-196a regulates bovine newborn ovary homeobox gene (NOBOX) expression during early embryogenesis. BMC Dev Biol 2011;11: 25.
12. O'Toole AS, Miller S, Haines N, Zink MC, Serra MJ. Comprehensive thermodynamic analysis of 3 double-nucleotide overhangs neighboring Watson-Crick terminal base pairs. Nucleic Acids Res 2006;34: 3338-3344.
13. Lewis BP, Burge CB, Bartel DP. Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell 2005;120: 15-20.
14. Toloubeydokhti T, Bukulmez O, Chegini N. Potential regulatory functions of microRNAs in the ovary. Semin Reprod Med 2008;26: 469-478.
15. Hossain MM, Salilew-Wondim D, Schellander K, Tesfaye D. The role of microRNAs in mammalian oocytes and embryos. Anim Reprod Sci 2012;134: 36-44.
16. Ambros V. The functions of animal microRNAs. Nature 2004;431: 350-355.
17. Bartel DP, Chen CZ. Micromanagers of gene expression: the potentially widespread influence of metazoan microRNAs. Nat Rev Genet 2004; 5: 396-400.
18. Lund E, Guttinger S, Calado A, Dahlberg JE, Kutay U. Nuclear export of microRNA precursors. Science 2004;303: 95-98.
19. Zamore PD, Haley B. Ribo-gnome: the big world of small RNAs. Science 2005;309: 1519-1524.
20. Murchison EP, Stein P, Xuan Z, et al. Critical roles for Dicer in the female germline. Genes Dev 2007;21: 682-693.
21. Hong X, Luense LJ, McGinnis LK, Nothnick WB, Christenson LK. Dicer1 is essential for female fertility and normal development of the female reproductive system. Endocrinology 2008;149: 6207-6212.
22. Rah H, Jeon YJ, Choi Y, et al. Association of methylenetetrahydrofolate reductase (MTHFR 677C9T) and thymidylate synthase (TSER and TS 1494del6) polymorphisms with premature ovarian failure in Korean women. Menopause 2012;19: 1260-1266.
23. Iwai N, Naraba H. Polymorphisms in human pre-miRNAs. Biochem Biophys Res Commun 2005;331: 1439-1444.
24. Duan R, Pak C, Jin P. Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA. Hum Mol Genet 2007;16: 1124-1131.
25. Ryan BM, Robles AI, Harris CC. Genetic variation in microRNA networks: the implications for cancer research. Nat Rev Cancer 2010;10: 389-402.
26. Rah H, Jeon YJ, Shim SH, et al. Association of miR-146aC9G, miR- 196a2T9C, and miR-499A9G polymorphisms with risk of premature ovarian failure in Korean women. Reprod Sci 2013;20: 60-68.
27. Rothman KJ, Greenland S. Precision and validity in epidemiological studies. In: Rothman KJ, Greenland S, ed. Modern Epidemiology, 2nd ed Philadelphia, PA: Lippencott-Raven Publishers, 1998.
28. Choi DH, Kim EK, Kim KH, et al. Expression pattern of endothelin system components and localization of smooth muscle cells in the human pre-ovulatory follicle. Hum Reprod 2011;26: 1171-1180.
29. Leaderer D, Hoffman AE, Zheng T, et al. Genetic and epigenetic association studies suggest a role of microRNA biogenesis gene exportin-5 (XPO5) in breast tumorigenesis. Int J Mol Epidemiol Genet 2011;2: 9-18.
30. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Ser B Stat Methodol 1995;57: 289-300.
31. Ritchie MD, Hahn LW, Roodi N, et al. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet 2001;69: 138-147.
32. Moore JH, Williams SM. New strategies for identifying gene-gene interactions in hypertension. Ann Med 2002;34: 88-95.
33. Hahn LW, Ritchie MD, Moore JH. Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics 2003;19: 376-382.
34. Jeon YJ, Choi YS, Rah H, et al. Association study of microRNA polymorphisms with risk of idiopathic recurrent spontaneous abortion in Korean women. Gene 2012;494: 168-173.
35. Albertini DF, Barrett SL. OocyteYsomatic cell communication. Reprod Suppl 2003;61: 49-54.
36. Assou S, Anahory T, Pantesco V, et al. The human cumulusYoocyte complex gene-expression profile. Hum Reprod 2006;21: 1705-1719.
37. Tang F, Kaneda M, O'Carroll D, et al. Maternal microRNAs are essential for mouse zygotic development. Genes Dev 2007;21: 644-648.
38. Nagaraja AK, Andreu-Vieyra C, Franco HL, et al. Deletion of Dicer in somatic cells of the female reproductive tract causes sterility. Mol Endocrinol 2008;22: 2336-2352.
39. Medeiros LA, Dennis LM, Gill ME, et al. Mir-290-295 deficiency in mice results in partially penetrant embryonic lethality and germ cell defects. Proc Natl Acad Sci U S A 2011;108: 14163-14168.
40. Yang X, Zhou Y, Peng S, et al. Differentially expressed plasma microRNAs in premature ovarian failure patients and the potential regulatory function of mir-23a in granulosa cell apoptosis. Reproduction 2012;144: 235-244.
41. Carletti MZ, Christenson LK. MicroRNA in the ovary and female reproductive tract. J Anim Sci 2009;87:E29-E38.
42. Carletti MZ, Fiedler SD, Christenson LK. MicroRNA 21 blocks apoptosis in mouse periovulatory granulosa cells. Biol Reprod 2010; 83: 286-295.
43. Ahn HW, Morin RD, Zhao H, et al. MicroRNA transcriptome in the newborn mouse ovaries determined by massive parallel sequencing. Mol Hum Reprod 2010;16: 463-471.
44. Yao G, Yin M, Lian J, et al. MicroRNA-224 is involved in transforming growth factor-AYmediated mouse granulosa cell proliferation and granulosa cell function by targeting Smad4. Mol Endocrinol 2010;24: 540-551.
45. Nothnick WB, Healy C, Hong X. Steroidal regulation of uterine miRNAs is associated with modulation of the miRNA biogenesis components Exportin-5 and Dicer1. Endocrine 2010;37: 265-273.
46. Gonzalez G, Behringer RR. Dicer is required for female reproductive tract development and fertility in the mouse. Mol Reprod Dev 2009; 76: 678-688.
47. Brownawell AM, Macara IG. Exportin-5, a novel karyopherin, mediates nuclear export of double-stranded RNA binding proteins. J Cell Biol 2002;156: 53-64.
48. Yi R, Qin Y, Macara IG, Cullen BR. Exportin-5 mediates the nuclear export of pre-microRNAs and short hairpin RNAs. Genes Dev 2003;17: 3011-3016.
49. Bohnsack MT, Czaplinski K, Gorlich D. Exportin 5 is a RanGTPdependent dsRNA-binding protein that mediates nuclear export of premiRNAs. RNA 2004;10: 185-191.
50. Shibata S, Sasaki M, Miki T, et al. Exportin-5 orthologues are functionally divergent among species. Nucleic Acids Res 2006;34: 4711-4721.
51. Melo SA, Moutinho C, Ropero S, et al. A genetic defect in exportin-5 traps precursor microRNAs in the nucleus of cancer cells. Cancer Cell 2010;18: 303-315.
52. Melo SA, Esteller M. A precursor microRNA in a cancer cell nucleus: get me out of here! Cell Cycle 2011;10: 922-925.
53. Yang Z, Wang L. Regulation of microRNA expression and function by nuclear receptor signaling. Cell Biosci 2011;1: 31.
54. Bennasser Y, Chable-Bessia C, Triboulet R, et al. Competition for XPO5 binding between Dicer mRNA, pre-miRNA and viral RNA regulates human Dicer levels. Nat Struct Mol Biol 2011;18: 323-327.
55. Ye Y, Wang KK, Gu J, et al. Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. Cancer Prev Res (Phila) 2008;1: 460-469.
56. Liang D, Meyer L, Chang DW, et al. Genetic variants in microRNA biosynthesis pathways and binding sites modify ovarian cancer risk, survival, and treatment response. Cancer Res 2010;70: 9765-9776.
57. Okada C, Yamashita E, Lee SJ, et al. A high-resolution structure of the pre-microRNA nuclear export machinery. Science 2009;326: 1275-1279.
58. Duan J, Wainwright MS, Comeron JM, et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 2003;12: 205-216.
59. Komar AA. Silent SNPs: impact on gene function and phenotype. Pharmacogenomics 2007;8: 1075-1080.
60. Kimchi-Sarfaty C, Oh JM, Kim IW, et al. A Bsilent[ polymorphism in the MDR1 gene changes substrate specificity. Science 2007;315: 525-528.
61. Bartoszewski RA, Jablonsky M, Bartoszewska S, et al. A synonymous single nucleotide polymorphism in DeltaF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein. J Biol Chem 2010;285: 28741-28748.
62. Donadeu FX, Schauer SN, Sontakke SD. Involvement of miRNAs in ovarian follicular and luteal development. J Endocrinol 2012;215: 323-334.
63. Kim JS, Choi YY, Jin G, et al. Association of a common AGO1 variant with lung cancer risk: a two-stage case-control study. Mol Carcinog 2010;49: 913-921.
64. Sung H, Lee KM, Choi JY, et al. Common genetic polymorphisms of microRNA biogenesis pathway genes and risk of breast cancer: a casecontrol study in Korea. Breast Cancer Res Treat 2011;130: 939-951.