9. Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, Tänzer A, Lagarde J, Lin W, Schlesinger F, Xue C, Marinov GK, Khatiin J, Williams BA, Zaleski C, Rozowsky J, Röder M, Kokocinski F, Abdelhamid RF, Alioto T, Antoshechkin I, Baer MT, Bar NS, Batut P, Bell K, Bell I, Chakrabortty S, Chen X, Chrast J, Curado J, Derrien T, Drenkow J, Dumais E, Dumais J, Duttagupta R, Falconnet E, Fastuca M, Fejes-Toth K, Ferreira P, Foissac S, Fullwood MJ, Gao H, Gonzalez D, Gordon A, Gunawardena H, Howald C, Jha S, Johnson R, Kapranov P, King B, Kingswood C, Luo OJ, Park E, Persaud K, Preall JB, Ribeca P, Risk B, Robyr D, Sammeth M, Schaffer L, See LH, Shahab A, Skancke J, Suzuki AM, Takahashi H, Tilgner H, Trout D, Walters N, Wang H, Wrobel J, Yu Y, Ruan X, Hayashizaki Y, Harrow J, Gerstein M, Hubbard T, Reymond A, Antonarakis SE, Hannon G, Giddings MC, Ruan Y, Wold B, Carninci P, Guigô R, Gingeras TR. Landscape of transcription in human cells. Nature. 2012 Sep 6:489(7414): 101-8.
10. Впервые я употребила это описание в своем посте на Huffington Post, рассуждая о проекте ENCODE. Оно мне настолько понравилось, что я решила использовать его и здесь. Вот ссылка на блог: http://www. huffingtonpost.com/nessa-carey/the-value-of-encode_b_1909153.html.
11. Хороший пример такой фотографии: http://blog.art21.org/ 2009/03/06/on-representations-of-the-artist-at-work-part-2/#.UyDZjZZFDIU.
12. Ward LD, Kellis M. Evidence of abundant purifying selection in humans for recently acquired regulatory functions. Science. 2012 Sep 28:337(6102): 1675-8.
13. Ecker JR, Bickmore WA, Barroso I, Pritchard JK, Gilad Y, Segal E. Genomics: ENCODE explained. Nature. 2012 Sep 6;489(7414).
14. Потрясающий пример межпоколенческого эпигенетического наследования с передачей реакции страха от родителя к детенышам изложен в: Dias BG, Ressler KJ. Parental olfactory experience influences behavior and neural structure in subsequent generations. Nat Neurosci. 2014 Jan; 17(1):89—96.
15. Graur D, Zheng Y, Price N, Azevedo KB, Zufall RA, Elhaik E. On the immortality of television sets: «function» in the human genome according to the evolution-free gospel of ENCODE. Genome Biol Evol. 2013;5(3):578-90.
Глава 15
1. http://womenshistory.about.eom/od/mythsofwomenshistory/a/ Did-Anne-Boleyn-Really-Have-Six-Fingers-On-One-Hand.htm.
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3. www.hemingwayhome.com/cats.
4. Lettice LA, Hill AE, Devenney PS, Hill RE. Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. Hum Mol Genet. 2008 Apr 1;17(7):978-85.
5. Подробнее см. в: http://www.genome.gov/12512735.
6. Jeong Y, Leskow PC, El-Jaick K, Roessler E, Muenke M, Yocum A, Du bourg C, Li X, Geng X, Oliver G, Epstein DJ. Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat Genet. 2008 Nov; 40(ll):1348-53.
7. Подробнее см. в: http://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1.
8. Lan go Allen H, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R; International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet. 2011 Dec 11;44(1):20-2.
9. SellickGS, BarkerKT,Stolte-DijkstraI,FleischmannC,Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet. 2004 Dec; 36(12):1301-5.
10. Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodriguez-Segui SA, Shaw-Smith C, Cho CH, Lango Allen H, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A; International Pancreatic Agenesis Consortium, Ellard S, Ferrer J, Hattersley AT. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet. 2014 Jan; 46(1):61 —4.
11. Обзор на эту тему: Sturm RA. Molecular genetics of human pigmentation diversity. Hum Mol Genet. 2009 Apr 15;18(R1):R9-17.
12. Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculoeutane^-ous albinism. Nat Genet. 1994 Jun; 7(2): 176—9.
13. Visser M, Kayser M, Palstra RJ. HERC2 rsl2913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res. 2012 Mar; 22(3):446 455.
14. Наиболее современный каталог см. в: www.genome.gov/gwas-tudies.
15. Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA. Potential étiologie and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Set USA. 2009 Jun 9;106(23):9362-7.
16. Gorkin DU, Ren B. Genetics: Closing the distance on obesity culprits. Nature. 2014 Mar 20;507(7492):309-10.
17. Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch AM, NessAR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin MR, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJ, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CN, Doney AS, Morris AD, Smith GD, Hattersley AT, McCarthy MI. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007 May 11;316(5826):889-94.
18. Scuteri A, Sanna S, Chen WM, Uda M, Albai G, Strait J, Najjar S, Nagaraja R, Orrü M, UsalaG, Dei M, LaiS, Maschio A, BusoneroF, Mulas A, Ehret GB, Fink AA, Weder AB, Cooper RS, Galan P, Chakravarti A, Schlessinger D, Cao A, Lakatta E, Abecasis GR. Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoSGenet. 2007 Jul; 3(7):e115.
19. Church C, Moir L, McMurray F, Girard C, Banks GT, Teboul L, Wells S, Brüning JC, Nolan PM, Ashcroft FM, Cox RD. Overexpression of Fto leads to increased food intake and results in obesity. Nat Genet. 2010 Dec; 42(12):1086 92.
