Несса Кэри - Мусорная ДНК. Путешествие в темную материю генома

3. Эти стадии очень четко описаны в ряде обзоров. Напр.: WangGS, Cooper ТА. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007 Oct; 8(10):749-61.

4. Подробнее о сплайсосоме см., напр., в: Padgett RA. New connections between splicing and human disease. Trends Genet. 2012 Apr; 28(4):147-54.

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7. McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet. 2001 Jul 15;10(15): 1555-62.

8. Chakarova CF, Hirns MM, Bolz H, Abu-Safeh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, WillisC, Moore AT, RosenbergT, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002 Jan 1;11(1):87-92.

9. Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi-Ariga SM. PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Exp Cell Res. 2004 Nov 1;300(2):283-96.

10. Микроцефальная остеодиспластическая примордиальная карликовость первого типа (также называется синдромом Тауби-Линдера): http://rarediseases.info.nih.gov/gard/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 /resources/1.

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12. Padgett RA. New connections between splicing and human disease. Trends Genet. 2012 Apr; 28(4):147-54.

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1. Ameres SL, Zamore PD. Diversifying microRNA sequence and function. Nat Rev Mot Celt Biol. 2013 Aug; 14(8):475-88.

2. Более подробное описание классов малых РНК см. в: Castel SE, Martienssen RA. RNA interference in the nucleus: roles for small RNAs in transcription, epigenetics and beyond. Nat Rev Genet. 2013 Feb; 14(2): 100—12.

3. Kang SG, Liu WH, Lu P, Jin HY, Lim HW, Shepherd J, Fremgen D, Verdin E, Oldstone MB, Qi H, Teijaro JR, Xiao C. MicroRNAs of the miR-17-92 family are critical regulators of T (FH) differentiation. Nat Immunol. 2013 Aug; 14 (8):849-57.

4. Baumjohann D, Kageyama R, Clingan JM, Morar MM, Patel S, de Kouchkovsky D, Bannard 0, Bluestone JA, Matloubian M, Ansel KM, Jeker LT. The microRNA cluster miR-17-92 promotes TFH cell differentiation and represses subset-inappropriate gene. Nat Immunol. 2013 Aug; 14(8):840-8.

5. Tassano E, Di Rocco M, Signa S, Gimelli G. De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2. Am J Med Genet A. 2013 Apr; 161A(4):894-6.

6. Подробнее см. в: http://ghr.nlm.nih.gov/condition/feingold-syndrome.

7. Han YC, Ventura A. Control of T (FH) differentiation by a microRNA cluster. Nat Immunol. 2013 Aug; 14(8):770-1.

8. Цит. no: Koerner MV, Pauler FM, Huang R, Barlow DP. The function of non-coding RNAs in genomic imprinting. Development. 2009 Jun; 136(11):1771-83.

9. Rogler LE, Kosmyna B, Moskowitz D, Bebawee R, Rahimzadeh J, Kutchko K, Laederach A, Notarangelo LD, Giliani S, Bouhassira E, Frenette P, Roy-Chowdhury J, Rogler CE. Small RNAs derived from In cRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. Hum Mol Genet. 2014 Jan 15;23(2):368-82.

10. Subramanyam D, Lamouille S, Judson RL, Liu JY, Bucay N, Derynck R, Blelloch R. Multiple targets of miR-302 and miR-372 promote reprogramming of human fibroblasts to induced pluripotent stem cells. Nat Biotechnol. 2011 May; 29(5):443-8.

11. Li Z, Yang CS, Nakashima K, Rana TM. Small RNA-mediated regulation of iPS cell generation. EMBO J. 2011 Mar 2;30(5):823-34.

12. Ameres SL, Zamore PI). Diversifying microRNA sequence and function. Nat Rev Mot Cell Biol. 2013 Aug; 14(8):475-88.

13. Huang TC, Sahasrabuddhe NA, Kim MS, Getnet D, Yang Y, Peterson JM, Ghosh B, Chaerkady R, Leach SD, Marchionni L, Wong GW, Pandey A. Regulation of lipid metabolism by Dicer revealed through SILAC mice. J Proteome Res. 2012 Apr 6;11(4):2193-205.

14. Yi R, O’Carroll D, Pasolli HA, ZhangZ, Dietrich FS, TarakhovskyA, Fuclis E. Morphogenesis in skin is governed by discrete sets of differentially expressed microRNAs. Nat Genet. 2006 Mar; 38(3):356-62.

15. Crist CG, Montarras D, Pallafacchina G, Rocancourt D, Cumano A, Conway SJ, Buckingham M. Muscle stem cell behavior is modified by microRNA-27 regulation of Pax3 expression. Proc Natl Acad Sci USA. 2009 Aug 11;106(32): 13383—7.

16. Chen JF,Tao Y,Li J, DengZ, YanZ, Xiao X, Wang DZ. MicroRNA-1 and microRNA-206 regulate skeletal muscle satellite cell proliferation and differentiation by repressing Pax7. J. Cell Biol. 2010 Sep 6;190(5):867 79.

17. da Costa Martins PA, Bourajjaj M, Gladka M, Kortland M, van Oort RJ, Pinto YM, Molkentin JD, De Windt LJ. Conditional dicer gene deletion in the postnatal myocardium provokes spontaneous cardiac remodeling. Circulation. 2008 Oct 7; 118(15):1567-76.

18. de Chevigny A, Core N, Follert P, Gaudin M, Barbry P, Béclin C, Cremer H. miR-7a regulation of Pax6 controls spatial origin of forebrain dopaminergic neurons. Nat Neurosci. 2012 Jun 24;15(8):1120-6.

19. Konopka W, Kiryk A, Novak M, Herwerth M, Parkitna JR, Wawrzyniak M, Kowarsch A, Michaluk P, Dzwonek J, Arnsperger T, Wilczynski G, Merkenschlager M, Theis FJ, Köhr G, Kaczmarek L, Schütz G. MicroRNA loss enhances learning and memory in mice. J Neurosci. 2010 Nov 3;30 (44):14835-42.

20. Schaefer A, O’Carroll D, Tan CL, Hillman D, Sugimori M, Llinas R, Greengard P. Cerebellar neurodegeneration in the absence of microRNAs. J Exp Med. 2007 Jul 9;204(7): 1553-8.

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22. Hollander JA, Ini HI, Amelio AL, Kocerha J, Bali P, Lu Q, Willoughby D, Wahlestedt C, Conkright MD, Kenny PJ. Striatal microRNA controls cocaine intake through CREB signalling В]. Nature. 2010 Jul 8;466(7303): 197-202.

23. Fernandez-Hernando C, Baldàn A. MicroRNAs and Cardiovascular Disease. Curr. Genet. Med. Rep. 2013 Mar; 1(1):30-38.

24. Вот один из обзоров, посвященных данной теме: Suzuki Н, Maruyama R, Yamamoto Е, Kai М. Epigenetic alteration and microRNA dysregulation in cancer. Front Genet. 2013 Dec 3;4:258. eCollection 2013.

25. Kleinman CL, Gerges N, Papillon-Cavanagh S, Sin-Chan P, Pramatarova A, Quang DA, Adoue V, Busche S, Caron M, Djainbazian H, Bemmo A, Fontebasso AM, Spence T, Schwartzentruber J, Albrecht S, Hauser P, Garami M, Klekner A, Bognar L, Montes L, Staffa A, Montpetit A, Berube P, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel PM, Duchaine T, Perotti C, Fleming A, Faury D, Remke M, Gallo M, Dirks P, Taylor MD, Sladek R, Pastinen T, Chan JA, Huang A, Majewski J, JabadoN. Fusion ofTTYHl with theC19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR. Nat Genet. 2014 Jan; 46 (1):39-44.

26. Song SJ, Poliseno L, Song MS, Ala U, Webster K, Ng C, Beringer G, Brikbak NJ, Yuan X, Cantley LC, Richardson AL, Pandolf PP. MicroRNA-antagonism regulates breast cancer sternness and metastasis via TET-family-dependent chromatin remodeling. Ceil. 2013 Jul 18;154(2):311-24.

27. Подробное изложение особенностей данного подхода см. в: Schwarzenbach H, Nishida N, Câlin GA, Pantel K. Clinical relevance of circulating cell-free microRNAs in cancer. Nat Rev Clin Oncol. 2014 Mar; 11(3): 145—56.

28. Chen W, Cai F, Zhang B, Barekati Z, Zhong XY. The level of circulating miRNA-lOb and miRNA-373 in detecting lymph node metastasis of breast cancer: potential biomarkers. Tumour Biol. 2013 Feb; 34(1):455-62.

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31. Подробнее см. в: http://emedicine.medscape.com/article/233442-overview.

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1. Краткий перечень лекарств, активнее всего продававшихся за последние годы, см. в: http://www.fiercepharma.com/special-reports/ 15-best-selling-drugs-2012.

2. Этой сфере посвящено множество блогов. Напр.: http://biop-harmconsortium.com/rnai-therapeutics-stage-a-comeback.

3. Подробнее см. в: http://ghr.nlm.nih.gov/condition/transthyre-tin-amyloidosis.

4. http://investors.alnylam.com/releasedetail.cfm?ReleaseID-805999.

5. Все новости о данной программе можно найти здесь: http://mir-narx.com/pipeline/mirna-MRX34.html.

6. Koval ED, Shaner C, Zhang P, du Maine X, Fischer K, Tay J, Chau BN, Wu GF, Miller TM. Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice. Hum Mol Genet. 2013 Oct 15; 22(20):4127-35.

7. Ozsolak F, Kapranov P, Foissac S, Kim SW, Fishilevich E, Monaghan AP, John B, Milos PM. Comprehensive polyadenylation site maps in yeast and human reveal pervasive alternative polyadenylation. Celt. 2010 Dec 10; 143(6): 1018-29.

8. Очень хороший обзор, посвященный тому, как антисмысловая экспрессия может регулировать гены: Pelechano V, Stein me tz LM. Gene regulation by antisense transcription. Nat Rev Genet. 2013 Dec; 14(12):880-93.

9. http://www.dmgs.com/cons/fomivirsen-intraocular.html.

10. https://www.bhf.org.uk/heart-matters-online/august-septem-ber-2012/medical/familial-hypercholesterolaemia.aspx.

11. http://www.medscape.com/viewarticle/804574_5.