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8. http://www.emedicinehealth.com/heart_and_lung_transplant/article_em.htm
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12. Недавно появился полезный обзор исследований эффектов такого удвоения сегментов генетического материала, в том числе и при аномальном кроссинговере: Rudd МК, Keene J, Bunke В, Kaminsky ЕВ, Adam MP, Mulle JG, Ledbetter DH, Martin CL. Segmentai duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet. 2009 Aug 15;18(16):2957-62.
13. Подробнее об этом заболевании и его причинах см. в: http:// www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm.
14. Подробнее об этом заболевании и его причинах см. в: http:// www.nlm.nih.gov/mediineplus/ency/article/001116.htm.
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16. http://www.innocenceproject.org/know, по состоянию на 1 января 2014.
Глава 5
1. Сведения о сборах даются по: http://www.imdb.com.
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8. Полезное обсуждение проблемы см. в: Armanios M, Blackburn EH. The telomere syndromes. Nat Rev Genet. 2012 Oct; 13(10):693-704.
9. Полезный обзор см. в: Armanios М, Blackburn EH. The telomere syndromes. Nat Rev Genet. 2012 Oct; 13(10):693-704.
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12. http://www.nlm.nih.gov/medlineplus/ency/anatomyvideos/000104.htm.
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16. Armanios M, Blackburn EH. The telomere syndromes. Nat Rev Genet. 2012 Oct; 13(10):693-704.
17. Отличное клиническое описание и полезные иллюстрации см. в: Calado RT, Young NS. Telomere diseases. N Engl J Med. 2009 Dec 10;361(24):2353-65.
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21. Cronkhite JT, Xing C, Raghu G, Chin KM, Torres F, Rosenblatt RL, Garcia CK. Telomere shortening in familial and sporadic pulmonary fibrosis. Am J Respir Crit Care Med. 2008 Oct 1;178(7):729-37.
22. Полезное описание см. в: see http://www.patient.co.uk/doctor/aplastic-anaemia.
23. de la Fuente J, Dokal I. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant. 2007 Sep; 11(6):584-94.
24. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA. 2005 Nov 1;102(44):15960-4.
25. http://www.who.int/mediacentre/factsheets/fs339/en.
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27. Цит. no: Sahin E, Depinho RA. Linking functional decline of telomeres, mitochondria and stem cells during ageing. Nature. 2010 Mar 25;464(7288):520-528.
28. Статистика дается по данным American Heart Association on Older Americans & Cardiovascular Diseases (Американской ассоциации изучения сердца пожилых американцев и сердечно-сосудистых заболеваний), 2013.
29. http://www.rcpsych.ac.uk/healthadvice/problemsdisorders/depressioninolderadults.aspx.
30. Valdes AM, Andrew T, Gardner JP, Kimura M, Oelsner E, Cherkas LF, Aviv A, Spector TD. Obesity, cigarette smoking, and telomere length in women. Lancet. 2005 Aug 20-26;366(9486):662-4.
31. Cawthon RM, Smith KR, O’Brien E, Sivatchenko A, Kerber RA. Association between telomere length in blood and mortality in people aged 60 years or older. Lancet. 2003 Feb 1;361(9355):393-5.
32. Fitzpatrick AL, Kronmal RA, Kimura M, Gardner JP, Psaty BM, Jenny NS, Tracy RP, Hardikar S, Aviv A. Leukocyte telomere length and mortality in the Cardiovascular Health Study. J Gerontol A Biol Sci MedSci. 2011 Apr; 66<4):421-9.
33. Atzmon G, Cho M, Cawthon RM, Budagov T, Katz M, Yang X, Siegel G, Bergman A, Huffman DM, Schechter CB, Wright WE, Shay JW, Barzilai N, Govindaraju DR, Suh Y. Evolution in health and medicine Sackler colloquium: Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians. Proc Natl Acad Sci USA. 2010 Jan 26;107 Suppl 1:1710-7.
34. Segerstrom SC, Miller GE. Psychological stress and the human immune system: a meta-analytic study of 30 years of inquiry. Psychol Bull. 2004 Jul; 130(4):601-30.
35. Epel ES, Blackburn EH, Lin J, Dhabhar FS, Adler NE, Morrow JD, Cawthon RM. Accelerated telomere shortening in response to life stress. Proc Natl Acad Sci USA. 2004 Dec 7; 101(49): 17312-5.
36. http://www.who.int/mediacentre/factsheets/fs311/en/index.html.
37. Полезное введение в эту область см. в: Tennen RI, Chua KF. Chromatin regulation and genome maintenance by mammalian SIRT6. Trends Biochem Sci. 2011 Jan; 36(l):39-46.
38. Valdes AM, Andrew T, Gardner JP, Kimura M, Oelsner E, Cherkas LF, Aviv A, Spector TD. Obesity, cigarette smoking, and telomere length in women. Lancet. 2005 Aug 20-26;366(9486):662-4.
39. UNFPA report on Ageing in The Twenty-First Century (Доклад Фонда ООН в области народонаселения «Старение в XXI веке»), 2012.
40. Jennings BJ, Ozanne SE, Dorling MW, Hales CN. Early growth determines longevity in male rats and may be related to telomere shortening in the kidney. FEBS Lett. 1999 Apr 1;448(1):4-8.
Глава 6
1. Из: The King and I («Король и я»), 1956, автор сценария Ernest Lehman, 20th Century Fox.
2. Хороший обзор типов центромер различных ветвей эволюционного древа см. в: Ogiyama Y, Ishii К. The smooth and stable operation of centromeres. Genes Genet Syst. 2012;87(2):63-73.
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.
