Мусорная ДНК. Путешествие в темную материю генома

8. Полное описание см. в: http://omim.org/entry/309550.

9. Ashley CT Jr, Wilkinson KD, Reines D, Warren ST. FMR1 protein: conserved RNP family domains and selective RNA binding. Science. 1993 Oct 22;262(5133):563-6.

10. Qin M, Kang J, Burlin TV, Jiang C, Smith CB. Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse. J Neurosci. 2005 May 18;25(20):5087-95.

11. Azevedo FA, Carvalho LR, Grinberg LT, Farfel JM, Ferretti RE, Leite RE, Jacob Filho W, Lent R, Herculano-Houzel S. Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain. J Comp Neurol. 2009 Apr 10;513(5):532-41.

12. Drachman DA. Do we have brain to spare? Neurology. 2005 Jun 28;64(12):2004-5.

13. Darnell JC, Van DriescheSJ, ZhangC, Hung KY, Mele A, FraserCE, Stone EF, Chen C, Fak JJ, Chi SW, Licatalosi DD, Richter JD, Darnell RB. FMRP stalls ribosomal translocation on messenger RNAs linked to synaptic function and autism. Cell. 2011 Jul 22;146 (2):247-61.

14. Udagawa T, Farny NG, Jakovcevski M, Kaphzan H, Alarcon JM, Anilkumar S, Ivshina M, Hurt JA, Nagaoka K, Nalavadi VC, Lorenz LJ, Bassell GJ, Akbarian S, Chattarji S, Klann E, Richter JD. Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology. Nat Med. 2013 Nov; 19(11):1473-7.

15. Кратко изложено в: http://www.ncbi.nlm.nih.gov/books/NBK1165.

16. Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet. 2004 Dec 15;13(24):3079-88.

17. Savkur RS, Philips AV, Cooper ТА. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 2001 Sep; 29(1):40-7.

18. HoTH, Charlet-BN, Poulos MG, Singh G, Swanson MS, Cooper ТА. Muscleblind proteins regulate alternative splicing. EMBO J. 2004 Aug 4;23(15):3103-12.

19. Kino Y, Washizu C, Oma Y, Onishi H, Nezu Y, Sasagawa N, Nukina N, Ishiura S. MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res. 2009 Oct; 37(19):6477-90.

20. Hanson EL, Jakobs PM, Keegan H,Coates K, BousmanS, Dienel NH, Litt M, Hershberger RE. Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy. J Card Fail. 2002 Feb; 8(1):28-32.

21. Цит. no: Michalova E, Vojtesek B, Hrstka R. Impaired pre-messenger RNA processing and altered architecture of 3' untranslated regions contribute to the development of human disorders. Int J Mol Sci. 2013 Jul 26; 14(8): 15681-94.

22. Полное описание синдрома см. в: http://ghr.nlm.nih.gov/ condition / immune-dysregulation-polyendocrinopathy-enteropa-thy-x-linked-syndrome.

23. Bennett CL, Brunkow ME, Ramsdell F, O’Briant КС, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-»AAUGAA) leads to the IPEX syndrome. Immunogenetics. 2001 Aug; 53(6):435-9.

24. Подробнее см. в: http://www.alsa.org.

25. Базу данных генов, которые, как полагают, играют какую-то роль в развитии БАС, можно найти здесь: http://alsod.iop.kcl.ac.uk.

26. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosier BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophie lateral sclerosis. Science. 2009 Feb 27;323(5918):1205-8.

27. Vance C, Rogelj B, Hortobâgyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE. Mutations in FUS, an RNA processing protein, cause familial amyotrophie lateral sclerosis type 6. Science. 2009 Feb27;323 (5918):1208-11.

28. Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F; ITALSGEN Consortium, Mora G, Restagno G, Chiô A, Traynor BJ. FUS mutations in sporadic amyotrophie lateral sclerosis. Neurobiol Aging. 2011 Mar; 32(3):550.el-4.