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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.
6. Vithana EN, Abu-Safeh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19ql3.4(RPll). Mol Cell. 2001 Aug; 8<2):375-81.
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.
13. Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV Jr. DGAT1 mutation is linked to a congenital diarrheal disorder. J. Clin. Invest. 2012 Dec 3; 122(12):4680-4.
14. Byun M, Abhyankar A, Leiarge V, Plancoulaine S, Palanduz A, Telhan L, Boisson В, Picard C, Dewell S, Zhao C, Jouanguy E, Feske S, Abel L, Casanova JL. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J.Exp. Med. 2010 Oct 25;207(11):2307-12.
15. См.: http://www.genome.gov/11007255.
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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.
20. Cooper TA, Wan L, Dreyfuss G. RNA and disease. Cell. 2009 Feb 20; 136(4): 777-93.
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.
