Derleme
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MikroRNA Polimorfizmleri ve Kanser

Yıl 2018, Cilt: 1 Sayı: 1, 1 - 18, 01.04.2018

Öz

MikroRNA’lar (miRNA’lar) gen ekspresyon yolaklarını düzenleyerek biyolojik süreçte önemli
bir rol oynamaktadır. miRNA’ların işlevini yerine getirememesi kronik hastalıklardan kansere
kadar birçok patolojik gelişmeye yol açmaktadır. Son zamanlarda yapılan araştırmalar, bu
patolojik gelişmelere miRNA dizilerinde tanımlanan tek nükleotid polimorfizmlerinin (SNP)
yol açabileceğini ileri sürmektedir. miRNA’lar ile ilişkili SNP’lerin (miRSNP) genel etki
mekanizmalarının farklı olması, bu miRSNP’lerin biyolojik etkilerinin ve hastalık patogenezine
olan katkılarının anlaşılmasını zorlaştırmaktadır. Bununla birlikte bu polimorfik varyasyonların
kanser gibi hastalıklardaki rollerinin belirlenmesi, hastalığın tanı ve tedavisine yol gösterici
olması beklenmektedir. Bu derlemede, miRSNP’lerin miRNA biyogenezini, işlevini ve
hedef genini nasıl etkilediği ile çeşitli kanser türlerinin patogenezinde nasıl rol oynadığı
özetlenmektedir.

Kaynakça

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  • 3. Kozomara A, Griffiths-Jones S. miRBase: annotating high confidence microRNAs using deep sequencing data. Nucleic acids research. 2013;42(D1):D68-D73.
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  • 5. Ardekani AM, Naeini MM. The role of microRNAs in human diseases. Avicenna journal of medical biotechnology. 2010;2(4):161.
  • 6. Wu J, Jiang R. Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases. The Scientific World Journal. 2013;2013.
  • 7. Consortium GP. A global reference for human genetic variation. Nature. 2015;526(7571):68.
  • 8. Tak YG, Farnham PJ. Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in noncoding regions of the human genome. Epigenetics & chromatin. 2015;8(1):57.
  • 9. Li G, Pan T, Guo D, Li L-C. Regulatory variants and disease: the e-cadherin− 160C/A SNP as an example. Molecular biology international. 2014;2014.
  • 10. Tobias ES, Connor M, Ferguson-Smith M. Tıbbi Genetiğin Esasları. 6. baskı ed. Özbek U, editor. İstanbul: İstanbul Tıp Kitabevi; 2014.
  • 11. Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, et al. Landscape of transcription in human cells. Nature. 2012;489(7414):101-8.
  • 12. Derrien T, Johnson R, Bussotti G, Tanzer A, Djebali S, Tilgner H, et al. The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression. Genome research. 2012;22(9):1775-89.
  • 13. Lee RC, Feinbaum RL, Ambros V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell. 1993;75(5):843-54.
  • 14. Huntzinger E, Izaurralde E. Gene silencing by microRNAs: contributions of translational repression and mRNA decay. Nature Reviews Genetics. 2011;12(2):99-110.
  • 15. Ha M, Kim VN. Regulation of microRNA biogenesis. Nature Reviews Molecular Cell Biology. 2014;15(8):509-24.
  • 16. Griffiths-Jones S, Saini HK, van Dongen S, Enright AJ. miRBase: tools for microRNA genomics. Nucleic acids research. 2008;36(suppl 1):D154-D8.
  • 17. Sonkoly E, Pivarcsi A. microRNAs in inflammation. International reviews of immunology. 2009;28(6):535-61.
  • 18. O’Connell RM, Rao DS, Chaudhuri AA, Baltimore D. Physiological and pathological roles for microRNAs in the immune system. Nature Reviews Immunology. 2010;10(2):111-22.
  • 19. Nakasa T, Nagata Y, Yamasaki K, Ochi M. A mini-review: microRNA in arthritis. Physiological Genomics. 2011;43(10):566-70.
  • 20. Filipowicz W, Bhattacharyya SN, Sonenberg N. Mechanisms of post-transcriptional regulation by microRNAs: are the answers in sight? Nature Reviews Genetics. 2008;9(2):102-14.
  • 21. Yates LA, Norbury CJ, Gilbert RJ. The long and short of microRNA. Cell. 2013;153(3):516-9. 22. Carthew RW, Sontheimer EJ. Origins and mechanisms of miRNAs and siRNAs. Cell. 2009;136(4):642-55.
  • 23. Kim VN, Han J, Siomi MC. Biogenesis of small RNAs in animals. Nature reviews Molecular cell biology. 2009;10(2):126-39.
  • 24. Lee Y, Han J, Yeom K-H, Jin H, Kim V, editors. Drosha in primary microRNA processing. Cold Spring Harbor symposia on quantitative biology; 2006: Cold Spring Harbor Laboratory Press.
  • 25. Lee Y, Ahn C, Han J, Choi H, Kim J, Yim J, et al. The nuclear RNase III Drosha initiates microRNA processing. nature. 2003;425(6956):415-9.
  • 26. Yi R, Qin Y, Macara IG, Cullen BR. Exportin-5 mediates the nuclear export of pre-microRNAs and short hairpin RNAs. Genes & development. 2003;17(24):3011-6.
  • 27. Meister G. Argonaute proteins: functional insights and emerging roles. Nature Reviews Genetics. 2013;14(7):447-59.
  • 28. 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(1):15-20.
  • 29. Melo SA, Kalluri R. Molecular pathways: microRNAs as cancer therapeutics. Clinical Cancer Research. 2012;18(16):4234-9.
  • 30. Cai T, Li J, An X, Yan N, Li D, Jiang Y, et al. Polymorphisms in MIR499A and MIR125A gene are associated with autoimmune thyroid diseases. Molecular and cellular endocrinology. 2017;440:106-15.
  • 31. Ghanbari M, Ikram MA, De Looper HW, Hofman A, Erkeland SJ, Franco OH, et al. Genomewide identification of microRNA-related variants associated with risk of Alzheimer’s disease. Scientific reports. 2016;6:28387.
  • 32. Kim J, Choi GH, Ko KH, Kim JO, Oh SH, Park YS, et al. Association of the single nucleotide polymorphisms in microRNAs 130b, 200b, and 495 with ischemic stroke susceptibility and post-stroke mortality. PloS one. 2016;11(9):e0162519.
  • 33. Liu X, Han Z, Yang C. Associations of microRNA single nucleotide polymorphisms and disease risk and pathophysiology. Clinical genetics. 2017;92(3):235-42.
  • 34. Morales S, Gulppi F, Gonzalez-Hormazabal P, Fernandez-Ramires R, Bravo T, Reyes JM, et al. Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. BMC genetics. 2016;17(1):109.
  • 35. Moszyńska A, Gebert M, Collawn JF, Bartoszewski R. SNPs in microRNA target sites and their potential role in human disease. Open biology. 2017;7(4):170019.
  • 36. Mullany LE, Herrick JS, Wolff RK, Slattery ML. Single nucleotide polymorphisms within MicroRNAs, MicroRNA targets, and MicroRNA biogenesis genes and their impact on colorectal cancer survival. Genes, Chromosomes and Cancer. 2017;56(4):285-95.
  • 37. Sethupathy P, Collins FS. MicroRNA target site polymorphisms and human disease. Trends in genetics. 2008;24(10):489-97.
  • 38. Salzman DW, Weidhaas JB. SNPing cancer in the bud: microRNA and microRNA-target site polymorphisms as diagnostic and prognostic biomarkers in cancer. Pharmacology & therapeutics. 2013;137(1):55-63.
  • 39. Mishra PJ, Bertino JR. MicroRNA polymorphisms: the future of pharmacogenomics, molecular epidemiology and individualized medicine. 2009.
  • 40. Dzikiewicz-Krawczyk A. MicroRNA polymorphisms as markers of risk, prognosis and treatment response in hematological malignancies. Critical reviews in oncology/hematology. 2015;93 (1):1-17.
  • 41. Song F-J, Chen K-X. Single-nucleotide polymorphisms among microRNA: big effects on cancer. Chinese journal of cancer. 2011;30(6):381.
  • 42. Salmena L, Poliseno L, Tay Y, Kats L, Pandolfi PP. A ceRNA hypothesis: the Rosetta Stone of a hidden RNA language? Cell. 2011;146(3):353-8.
  • 43. Cipollini M, Landi S, Gemignani F. MicroRNA binding site polymorphisms as biomarkers in cancer management and research. Pharmacogenomics and personalized medicine. 2014;7:173.
  • 44. Torre LA, Bray F, Siegel RL, Ferlay J, LortetTieulent J, Jemal A. Global cancer statistics, 2012. CA: a cancer journal for clinicians. 2015;65(2):87- 108.
  • 45. Jiang Y, Chen J, Wu J, Hu Z, Qin Z, Liu Xa, et al. Evaluation of genetic variants in microRNA biosynthesis genes and risk of breast cancer in Chinese women. International journal of cancer. 2013;133(9):2216-24.
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  • 11. Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, et al. Landscape of transcription in human cells. Nature. 2012;489(7414):101-8.
  • 12. Derrien T, Johnson R, Bussotti G, Tanzer A, Djebali S, Tilgner H, et al. The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression. Genome research. 2012;22(9):1775-89.
  • 13. Lee RC, Feinbaum RL, Ambros V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell. 1993;75(5):843-54.
  • 14. Huntzinger E, Izaurralde E. Gene silencing by microRNAs: contributions of translational repression and mRNA decay. Nature Reviews Genetics. 2011;12(2):99-110.
  • 15. Ha M, Kim VN. Regulation of microRNA biogenesis. Nature Reviews Molecular Cell Biology. 2014;15(8):509-24.
  • 16. Griffiths-Jones S, Saini HK, van Dongen S, Enright AJ. miRBase: tools for microRNA genomics. Nucleic acids research. 2008;36(suppl 1):D154-D8.

MicroRNA Polymorphisms and Cancer

Yıl 2018, Cilt: 1 Sayı: 1, 1 - 18, 01.04.2018

Öz

MicroRNAs (miRNAs) play an important role in the biological process by regulating gene
expression pathways. Dysfunction of the miRNAs can lead to many pathological developments
from chronic diseases to cancer. Recent research suggests that these pathological developments
may lead to single nucleotide polymorphisms (SNPs) identified in miRNA sequences. The
difference in general effect mechanisms of miRNAs-associated SNPs (miRSNPs) makes it hard
to comprehend the biological effects and potential contribution to disease pathogenesis of these
miRSNPs. Yet, it is expected that the determination of the role these polymorphic variations
play on diseases such as cancer, will be a guiding light on the diagnosis and treatment of these
diseases. In this review, how miRNA NPs affect miRNA biogenesis, the function and target gene
and what role it plays in the pathogenesis of various types of cancer are summarized.

Kaynakça

  • 1. Bartel DP. MicroRNAs: genomics, biogenesis, mechanism, and function. Cell. 2004;116(2):281- 97.
  • 2. Króliczewski J, Sobolewska A, Lejnowski D, Collawn JF, Bartoszewski R. MicroRNA single polynucleotide polymorphism influences on microRNA biogenesis and mRNA target specificity. Gene. 2017.
  • 3. Kozomara A, Griffiths-Jones S. miRBase: annotating high confidence microRNAs using deep sequencing data. Nucleic acids research. 2013;42(D1):D68-D73.
  • 4. Van Peer G, Lefever S, Anckaert J, Beckers A, Rihani A, Van Goethem A, et al. miRBase Tracker: keeping track of microRNA annotation changes. Database. 2014;2014:bau080.
  • 5. Ardekani AM, Naeini MM. The role of microRNAs in human diseases. Avicenna journal of medical biotechnology. 2010;2(4):161.
  • 6. Wu J, Jiang R. Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases. The Scientific World Journal. 2013;2013.
  • 7. Consortium GP. A global reference for human genetic variation. Nature. 2015;526(7571):68.
  • 8. Tak YG, Farnham PJ. Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in noncoding regions of the human genome. Epigenetics & chromatin. 2015;8(1):57.
  • 9. Li G, Pan T, Guo D, Li L-C. Regulatory variants and disease: the e-cadherin− 160C/A SNP as an example. Molecular biology international. 2014;2014.
  • 10. Tobias ES, Connor M, Ferguson-Smith M. Tıbbi Genetiğin Esasları. 6. baskı ed. Özbek U, editor. İstanbul: İstanbul Tıp Kitabevi; 2014.
  • 11. Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, et al. Landscape of transcription in human cells. Nature. 2012;489(7414):101-8.
  • 12. Derrien T, Johnson R, Bussotti G, Tanzer A, Djebali S, Tilgner H, et al. The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression. Genome research. 2012;22(9):1775-89.
  • 13. Lee RC, Feinbaum RL, Ambros V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell. 1993;75(5):843-54.
  • 14. Huntzinger E, Izaurralde E. Gene silencing by microRNAs: contributions of translational repression and mRNA decay. Nature Reviews Genetics. 2011;12(2):99-110.
  • 15. Ha M, Kim VN. Regulation of microRNA biogenesis. Nature Reviews Molecular Cell Biology. 2014;15(8):509-24.
  • 16. Griffiths-Jones S, Saini HK, van Dongen S, Enright AJ. miRBase: tools for microRNA genomics. Nucleic acids research. 2008;36(suppl 1):D154-D8.
  • 17. Sonkoly E, Pivarcsi A. microRNAs in inflammation. International reviews of immunology. 2009;28(6):535-61.
  • 18. O’Connell RM, Rao DS, Chaudhuri AA, Baltimore D. Physiological and pathological roles for microRNAs in the immune system. Nature Reviews Immunology. 2010;10(2):111-22.
  • 19. Nakasa T, Nagata Y, Yamasaki K, Ochi M. A mini-review: microRNA in arthritis. Physiological Genomics. 2011;43(10):566-70.
  • 20. Filipowicz W, Bhattacharyya SN, Sonenberg N. Mechanisms of post-transcriptional regulation by microRNAs: are the answers in sight? Nature Reviews Genetics. 2008;9(2):102-14.
  • 21. Yates LA, Norbury CJ, Gilbert RJ. The long and short of microRNA. Cell. 2013;153(3):516-9. 22. Carthew RW, Sontheimer EJ. Origins and mechanisms of miRNAs and siRNAs. Cell. 2009;136(4):642-55.
  • 23. Kim VN, Han J, Siomi MC. Biogenesis of small RNAs in animals. Nature reviews Molecular cell biology. 2009;10(2):126-39.
  • 24. Lee Y, Han J, Yeom K-H, Jin H, Kim V, editors. Drosha in primary microRNA processing. Cold Spring Harbor symposia on quantitative biology; 2006: Cold Spring Harbor Laboratory Press.
  • 25. Lee Y, Ahn C, Han J, Choi H, Kim J, Yim J, et al. The nuclear RNase III Drosha initiates microRNA processing. nature. 2003;425(6956):415-9.
  • 26. Yi R, Qin Y, Macara IG, Cullen BR. Exportin-5 mediates the nuclear export of pre-microRNAs and short hairpin RNAs. Genes & development. 2003;17(24):3011-6.
  • 27. Meister G. Argonaute proteins: functional insights and emerging roles. Nature Reviews Genetics. 2013;14(7):447-59.
  • 28. 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(1):15-20.
  • 29. Melo SA, Kalluri R. Molecular pathways: microRNAs as cancer therapeutics. Clinical Cancer Research. 2012;18(16):4234-9.
  • 30. Cai T, Li J, An X, Yan N, Li D, Jiang Y, et al. Polymorphisms in MIR499A and MIR125A gene are associated with autoimmune thyroid diseases. Molecular and cellular endocrinology. 2017;440:106-15.
  • 31. Ghanbari M, Ikram MA, De Looper HW, Hofman A, Erkeland SJ, Franco OH, et al. Genomewide identification of microRNA-related variants associated with risk of Alzheimer’s disease. Scientific reports. 2016;6:28387.
  • 32. Kim J, Choi GH, Ko KH, Kim JO, Oh SH, Park YS, et al. Association of the single nucleotide polymorphisms in microRNAs 130b, 200b, and 495 with ischemic stroke susceptibility and post-stroke mortality. PloS one. 2016;11(9):e0162519.
  • 33. Liu X, Han Z, Yang C. Associations of microRNA single nucleotide polymorphisms and disease risk and pathophysiology. Clinical genetics. 2017;92(3):235-42.
  • 34. Morales S, Gulppi F, Gonzalez-Hormazabal P, Fernandez-Ramires R, Bravo T, Reyes JM, et al. Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population. BMC genetics. 2016;17(1):109.
  • 35. Moszyńska A, Gebert M, Collawn JF, Bartoszewski R. SNPs in microRNA target sites and their potential role in human disease. Open biology. 2017;7(4):170019.
  • 36. Mullany LE, Herrick JS, Wolff RK, Slattery ML. Single nucleotide polymorphisms within MicroRNAs, MicroRNA targets, and MicroRNA biogenesis genes and their impact on colorectal cancer survival. Genes, Chromosomes and Cancer. 2017;56(4):285-95.
  • 37. Sethupathy P, Collins FS. MicroRNA target site polymorphisms and human disease. Trends in genetics. 2008;24(10):489-97.
  • 38. Salzman DW, Weidhaas JB. SNPing cancer in the bud: microRNA and microRNA-target site polymorphisms as diagnostic and prognostic biomarkers in cancer. Pharmacology & therapeutics. 2013;137(1):55-63.
  • 39. Mishra PJ, Bertino JR. MicroRNA polymorphisms: the future of pharmacogenomics, molecular epidemiology and individualized medicine. 2009.
  • 40. Dzikiewicz-Krawczyk A. MicroRNA polymorphisms as markers of risk, prognosis and treatment response in hematological malignancies. Critical reviews in oncology/hematology. 2015;93 (1):1-17.
  • 41. Song F-J, Chen K-X. Single-nucleotide polymorphisms among microRNA: big effects on cancer. Chinese journal of cancer. 2011;30(6):381.
  • 42. Salmena L, Poliseno L, Tay Y, Kats L, Pandolfi PP. A ceRNA hypothesis: the Rosetta Stone of a hidden RNA language? Cell. 2011;146(3):353-8.
  • 43. Cipollini M, Landi S, Gemignani F. MicroRNA binding site polymorphisms as biomarkers in cancer management and research. Pharmacogenomics and personalized medicine. 2014;7:173.
  • 44. Torre LA, Bray F, Siegel RL, Ferlay J, LortetTieulent J, Jemal A. Global cancer statistics, 2012. CA: a cancer journal for clinicians. 2015;65(2):87- 108.
  • 45. Jiang Y, Chen J, Wu J, Hu Z, Qin Z, Liu Xa, et al. Evaluation of genetic variants in microRNA biosynthesis genes and risk of breast cancer in Chinese women. International journal of cancer. 2013;133(9):2216-24.
  • 46. Sung H, Lee K-M, Choi J-Y, Han S, Lee J-Y, Li L, et al. Common genetic polymorphisms of microRNA biogenesis pathway genes and risk of breast cancer: a case–control study in Korea. Breast cancer research and treatment. 2011;130(3):939-51.
  • 47. Mashayekhi S, Saeidi Saedi H, Salehi Z, Soltanipour S, Mirzajani E. Effects of miR-27a, miR-196a2 and miR-146a polymorphisms on the risk of breast cancer. British journal of biomedical science. 2018;75(2):76-81.
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Ayrıntılar

Birincil Dil Türkçe
Konular Klinik Tıp Bilimleri
Bölüm Derleme
Yazarlar

Ahu Soyocak
İSTANBUL AYDIN ÜNİVERSİTESİ
Türkiye

Yayımlanma Tarihi 1 Nisan 2018
Yayımlandığı Sayı Yıl 2018 Cilt: 1 Sayı: 1

Kaynak Göster

APA
Soyocak, A. (2018). MikroRNA Polimorfizmleri ve Kanser. Tıp Fakültesi Klinikleri Dergisi, 1(1), 1-18.


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