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.
5. http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa.
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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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17. http://www.nhs.uk/conditions/spinal-muscular-atrophy/Pages/ Introduction.aspx.
18. http://www.smatnist.org/what-is-sma/what-causes-sma.
19. Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mot Genet. 1999 Jul; 8(7):1177-83.
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21. http://quest.mda.org/news/dmd-drisapersen-outperforms-place-bo-walking-test.
22. http://www.fiercebiotech.com/story/glaxosmithklines-duc-henne-md-drug-mirrors-placebo-effect-phiii/2013-10-07.
Глава 18
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.
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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.
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31. Подробнее см. в: http://emedicine.medscape.com/article/233442-overview.
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Глава 19
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.
