11. Статья, на которую дается ссылка выше, чуть более доступно изложена в: Goff LA, Rinn JL. Poly-combing the genome for RNA. Nat Struct Mol Biol. 2013 Dec; 20(12):1344-6.
12. Di Ruscio A, Ebralidze AK, Benoukraf T, Amabile G, Goff LA, Terragni J, Figueroa ME, De Figueiredo Pontes LL, Alberich-Jorda M, Zhang P, Wu M, D’Alô F, Melnick A, Leone G, Ebralidze KK, Pradhan S, Rinn JL, Tenen ЕЮ. DNMTl-interacting RNAs block gene-specific DNA méthylation. Nature. 2013 Nov 21;503(7476):371-6.
13. Обзор всех сложных стадий процесса см. в: 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.
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: http://www.mousebook.org/catalog.php?catalog=imprinting.
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: http://omim.org/entry/176270.
20. Полное описание см. в: http://omim.org/entry/105830.
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: http://omim.org/entry/180860.
25. Полное описание см. в: http://omim.org/entry/130650.
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.
