Мусорная ДНК - Страница 99

14. Froberg JE, Yang L, Lee JT. Guided by RNAs: X-inactivation as a model for long non-coding RNA function. J Mol Biol. 2013 Oct 9;425(19):3698-706.

15. Michaud EJ, van Vugt MJ, Bultman SJ, Sweet HO, Davisson MT, Woychik RP. Differential expression of a new dominant agouti allele (Aiapy) is correlated with méthylation state and is influenced by parental lineage. Genes Dev. 1994 Jun 15;8(12):1463-72.

Глава 10

1. Довольно современный обзор исследований в этой области, см. в: Surani МА, Barton SC, Norris ML. Experimental reconstruction of mouse eggs and embryos: an analysis of mammalian development. Biol Reprod. 1987 Feb; 36(1):1-16.

2. Онлайн-хранилище импринтированных ДНК-последовательностей мыши: .

3. Полезный обзор см. в: Guenzl PM, Barlow DP. Macro long non-coding RNAs: a new layer of cis-regulatory information in the mammalian genome. RNA Biol. 2012 Jun; 9(6):731-41.

4. Недавний обзор, посвященный импринтингу у сумчатых: Graves JA, Renfree MB. Marsupials in the age of genomics. Annu Rev Genomics Hum Genet. 2013;14:393-420.

5. Landers M, Bancescu DL, Le Meur E, Rougeulle C, Glatt-Deeley H, Brannan C, Muscatelli F, Lalande M. Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res. 2004 Jun 29;32 (11):3480-92

6. Terranova R, Yokobayashi S, Stadler MB, Otte AP, van Lohuizen M, Orkin SH, Peters AH. Polycomb group proteins Ezh2 and Rnf2 direct genomic contraction and imprinted repression in early mouse embryos. Dev Cell. 2008 Nov; 15(5):668-79.

7. Wagschal A, Sutherland HG, Woodfine K, Henckel A, Chebli K, Schulz R, Oakey RJ, Bickmore WA, Feil R. G9a histone methyltransferase contributes to imprinting in the mouse placenta. Mol Cell Biol. 2008 Feb; 28(3):1104-13.

8. Nagano T, Mitchell JA, Sanz LA, Pauler FM, Ferguson-Smith AC, Feil R, Fraser P. The Air noncoding RNA epigenetically silences transcription by targeting G9a to chromatin. Science. 2008 Dec 12;322(5908):1717-20.

9. 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.

10. Barlow DP. Methylationand imprinting: from host defense to gene regulation? Science. 1993 Apr 16;260(5106):309-10.

11. Цит. no: Skaar DA, Li Y, Bernal AJ, Hoyo C, Murphy SK, Jirtle RL. The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility. ILAR J. 2012 Dec; 53(3-4):341-58.

12. Описание действий этих белков в процессе метилирования материнской ОКИ см. в: Bourc’his D, Proudhon С. Sexual dimorphism in parental imprint ontogeny and contribution to embryonic development. Mol Cell Endocrinol. 2008 Jan 30;282(1-2):87-94.

13. Вот статья, продемонстрировавшая важную роль этого белка в поддержании материнского импринта: Hirasawa R, Chiba Н, Kaneda М, Tajima S. Li E, Jaenisch R, Sasaki H. Maternal and zygotic Dnmtl are necessary and sufficient for the maintenance of DNA methyl-ation imprints during preimplantation development. Genes Dev. 2008 Jun 15;22(12):1607-16.

14. Reinhart B, Paoloni-Giacobino A, Chaillet JR. Specific differentially methylated domain sequences direct the maintenance of méthylation at imprinted genes. Mol Cell Biol. 2006 Nov; 26(22):8347-56.

15. Skaar DA, Li Y, Bernal AJ, HoyoC, Murphy SK, Jirtle RL. The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility. ILAR J. 2012 Dec; 53(3-4):341-58.

16. Kawahara M, Wu Q, Takahashi N, Morita S, Yamada K, Ito M, Ferguson-Smith AC, Kono T. High-frequency generation of viable mice from engineered bi-maternal embryos. Nat Biotechnol. 2007 Sep; 25(9):1045-50.

17. Цит. no: Fatica A, Bozzoni I. Long non-coding RNAs: new players in cell differentiation and development. Nat Rev Genet. 2014 Jan; 15(1):7-21.

18. Обзор данного аспекта проблемы см. в: Frost JM, Moore GE. The importance of imprinting in the human placenta. PLoS Genet. 2010 Jul 1;6(7):el001015.

19. Полное описание см. в: .

20. Полное описание см. в: .

21. de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haclst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O’Rahilly S, Froguel P, Farooqi 1S, Blakemore AI. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet. 2009 Sep 1;18(17):3257-65.

22. Duker AL, Ballif BC, Bawle EY, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, SahooT. Paternally inherited microdeletion at 15qll.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. EurJ Hum Genet. 2010 Nov; 18 (11):1196-201.

23. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008 Jun; 40(6):719-21.

24. Полное описание см. в: .

25. Полное описание см. в: .

26. Данные собраны в: Kotzot D. Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Ann Genet. 2004 Jul-Sep; 47(3):251-60.

27. Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet. 2008 Feb; 40(2):237-242.

28. Подробный обзор, посвященный наследованию и клиническим особенностям различных заболеваний человека, связанных с импринтингом: Ishida М, Moore GE. The role of imprinted genes in humans. Mol. Aspects Med. 2013 Jul-Aug; 34(4):826-840.

29. Пресс-релиз Американского общества репродуктивной медицины от 14 октября 2013: http;// Born with_Help_of_Assisted_Reproductive_Technologies.

30. Это довольно подробно обсуждается в: Ishida М, Moore GE. The role of imprinted genes in humans. Mol Aspects Med. 2013 Jul — Aug; 34(4):826-40.

Глава 11

1. Цит. no: Moss T, Langlois F, Gagnon-Kugler T, Stefanovsky V. A housekeeper with power of attorney: the rRNA genes in ribosome biogenesis. Cell Mol LifeSci. 2007 Jan; 64(1):29-49.

2. Что касается более подробных сведений о рибосомах и рРНК, то проще всего сослаться на хороший учебник молекулярной биологии. Например, на: Molecular Biology of the Cell, 5th Edition, авторы: Alberts, Johnson, Lewis, Raff, Roberts и Walter, 2012.

3. .

4. .

5. Цит. no: Zentner GE, Saiakhova A, Manaenkov P, Adams MD, Scacheri PC. Integrative genomic analysis of human ribosomal DNA. Nucleic Acids Res. 2011 Jul; 39(12):4949-60.

6. Интересный, хотя и несколько провокативный обзор, посвященный заболеваниям, вызванным дефектам рибосомных белков: Narla А, Ebert BL. Ribosomopathies: human disorders of ribosome dysfunction. Blood. 2010 Apr 22;115(16):3196-205.

7. International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15; 409(6822):860-921.

8. См., напр.: Hedges SB, Blair JE, Venturi ML, Shoe JL. A molecular timescale of eukaryote evolution and the rise of complex multicellular life. BMC Evol Biol. 2004 Jan 28;4:2.

9. Цит. no: Wilson DN. Ribosome-targeting antibiotics and mechanisms of bacterial resistance. Nat Rev Microbiol. 2014 Jan; 12(1):35—48.

10. .

11. Если хотите узнать об этом побольше, можете снова обратиться к упомянутому выше хорошему учебнику по молекулярной биологии: Molecular Biology of the Cell, 5th Edition, авторы: Alberts, Johnson, Lewis, Raff, Roberts и Walter, 2012.

12. McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Ann Neurol. 2004 Apr; 55 (4):478-84.

13. Zheng J, Ji Y, Guan MX. Mitochondrial tRNA mutations associated with deafness. Mitochondrion. 2012 May; 12 (3):406-13.

14. Qiu Q, Li R, Jiang P, Xue L, Lu Y, Song Y, Han J, Lu Z, Zhi S, Mo JQ, Guan MX. Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees. Hum Mutât. 2012 Aug; 33(8):1285-93.