3. Полезный обзор: Verdaasdonk JS, Bloom K. Centromeres: unique chromatin structures that drive chromosome segregation. Nat Rev Mol Cell Biol. 2011 May; 12(5):320-32.

4. Palmer DK, O’Day K, Wener MH, Andrews BS, Margolis RL. A 17-kD centromere protein (CENP-A) copurifies with nucleosome core particles and with histones. J Cell Biol. 1987 Apr; 104(4):805-15.

5. Takahashi К, Chen ES, Yanagida M. Requirement of Mis6 centromere connector for localizing a CENP-A-like protein in fission yeast. Science. 2000 Jun 23;288(5474):2215-9.

6. Blower MD, Karpen GH. The role of Drosophila CID in kinetochore formation, cell-cycle progression and heterochromatin interactions. Nat Cell Biot. 2001 Aug; 3(8):730-9.

7. Hori T, Amano M, Suzuki A, Backer CB, Welburn JP, Dong Y, McEwen BF, Shang WH, Suzuki E, Okawa K, Cheeseman IM, Fukagawa T. CCAN makes multiple contacts with centromeric DNA to provide distinct pathways to the outer kinetochore. Cell. 2008 Dec 12;135(6):1039-52.

8. Heun P, Erhardt S, Blower MD, Weiss S. Skora AD, Karpen GHïf-Mislocalization of the Drosophila centromere-specific histone CID promotes formation of functional ectopic kinetochores. Dev Cell. 2006 Mar; 10(3):303-15.

9. Van Hooser AA, Ouspenski II, Gregson HC, Starr DA, Yen TJ, Goldberg ML, Yokomori K, Earnshaw WC, Sullivan KF, Brinkley BR. Specification of kinetochore-forming chromatin by the histone H3 variant CENP-A. J Cell Sci. 2001 Oct; 114(Pt 19):3529-42.

10. Zuccolo M, Alves A, Galy V, Bolhy S, Formstecher E, Racine V, Sibarita JB, Fukagawa T, Shiekhattar R, Yen T, Doye V. The human Nupl07-160 nuclear pore subcomplex contributes to proper kinetochore functions. EMBO J. 2007 Apr 4;26(7): 1853-64.

11. Palmer DK, O’Day K, Wener MH, Andrews BS, Margolis RL. A 17-kD centromere protein (CENP-A) copurifies with nucleosome core particles and with histones. J Cell Biol. 1987 Apr; 104(4):805-15.

12. Sekulic N, Bassett EA, Rogers DJ, Black BE. The structure of (CENP-A-H4) (2) reveals physical features that mark centromeres. Nature. 2010 Sep 16;467(7313):347-51.

13. Warburton PE, Cooke CA, Bourassa S, Vafa O, Sullivan BA, Stetten G, Gimelli G, Warburton D, Tyler-Smith C, Sullivan KF, Poirier GG, Earnshaw WC. Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres. Curr Biol. 1997 Nov 1;7(11):901-904.

14. Очень хороший анализ этой модели см. в: Sekulic N, Black BE. Molecular underpinnings of centromere identity and maintenance. Trends Biochem Sci. 2012 Jun; 37(6):220-229.

15. Подробнее об этом процессе и об эпигенетических модификациях, которые играют в нем свою роль, см. в: Gonzàlez-Barrios R, Soto-Reyes Е, Herrera LA. Assembling pieces of the centromere epigenetics puzzle. Epigenetics. 2012 Jan 1;7(1):3-13.

16. Из песенки «Что-то хорошее» киноверсии «Звуков музыки» (The Sound of Music) 1965, 20th Century Fox.

17. Особенно важен в этом отношении белок HJURP. Подробнее см. в: Sekulic N, Black BE. Molecular underpinnings of centromere identity and maintenance. Trends Biochem Sci. 2012 Jun; 37(6):220-9.

18. Palmer DK, O’Day K, Margolis RL. The centromere specific histone CENP-A is selectively retained in discrete foci in mammalian sperm nuclei. Chromosoma. 1990 Dec; 100(l):32-6.

19. Schiff PB, Fant J, HorwitzSB. Promotion of microtubule assembly in vitro by taxol. Nature. 1979 Feb 2;277(5698):665-7.

20. http://www.cancerresearchuk.org/cancer-help/about-cancer/ treatment/cancer-drugs/paclitaxel.

21. Цифра приведена в: Rajagopalan H. Lengauer С. Aneupioidy and cancer. Nature. 2004 Nov 18;432(7015):338-41.

22. Обзор на эту тему: Pfau SJ, Amon A. Chromosomal instability and aneupioidy in cancer: from yeast to man. EM BO Rep. 2012 Jun 1;13(6):515-27.

23. Rehen SK, Yung YC, McCreight MP, Kaushal D, Yang AH, Almeida BS, Kingsbury MA, Cabral KM, McConnell MJ, Anliker B, Fontanoz M, Chun J. Constitutional aneupioidy in the normal human brain. J Neurosci. 2005 Mar 2;25(9):2176-80.

24. Rehen SK, McConnell MJ, Kaushal D, Kingsbury MA, Yang AH, Chun J. Chromosomal variation in neurons of the developing and adult mammalian nervous system. Proc Natl Acad Sci USA. 2001 Nov 6;98(23):13361-6.

25. Kingsbury MA, Friedman B, McConnell MJ, Rehen SK, Yang AH, Kaushal D, Chun J. Aneuploid neurons are functionally active and integrated into brain circuitry. Proc Natl Acad Sci USA. 2005 Apr 26; 102(17):6143-7.

26. Melchiorri C, Chieco P, Zedda AI, Coni P, Ledda-Columbano GM, Columbano A. Ploidy and nuclearity of rat hepatocytes after compensatory regeneration or mitogen-induced liver growth. Carcinogenesis. 1993 Sep; 14(9):1825-30.

27. Замечательный рассказ о бурных спорах вокруг того, кто первым идентифицировал причину синдрома Дауна (эти споры не утихают и сейчас, полвека спустя): http://www.nature.com/news/down-s-syn-drome-discovery-dispute- resurfaces-in-france-1.14690.

28. Медицинские и социальные аспекты синдрома Дауна подробно обсуждаются во многих группах поддержки пациентов. См., напр.: http://www.downs-syndrome.org.uk.

29. http://www.nhs.uk/conditions/edwards-syndrome/Pages/Introduction.aspx.

30. http://www.cafamily.org.uk/medical-inforination/conditions/p/patau-syndrome.

31. Toner JP, Grainger DA, Frazier LM. Clinical outcomes among recipients of donated eggs: an analysis of the U. S. national experience, 1996-1998. Fertil Steril. 2002 Nov; 78(5):1038-45.

Глава 7

1. Statistical Bulletin from the Office for National Statistics, 8 August 2013 Annual Mid-year Population Estimates, 2011 and 2012.

2. Вероятно, впервые важная роль этого гена продемонстрировала в: Berta Р, Hawkins JR, Sinclair АН, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature. 1990 Nov 29;348(6300):448-50.

3. Yamauchi Y, Riel JM, Stoytcheva Z, Ward MA. Two Y genes can replace the entire Y chromosome for assisted reproduction in the mouse. Science. 2014 Jan 3;343(6166):69-72.

4. Ross MT et al., The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37.

5. Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF. Localization of the X inactivation centre on the human X chromosome in Xq13. Nature. 1991 Jan 3;349(6304):82-84.