Стивен Хэйне - ДНК – не приговор. Удивительная связь между вами и вашими генами

Английское название (CRISPR associated protein # 9) дает аббревиатуру Cas9 . Прим. перев.

Barrangou, R., Fremaux, C., Deveau, H., Richards, M., Boyaval, P., Moineau, S., et al. (2007). CRISPR provides acquired resistance against viruses in prokaryotes. Science , 315, 1709–1712; Hsu, P. D., Lander, E. S., & Zhang, F. (2014). Development and applications of CRISPR-Cas9 for genome engineering. Cell , 157, 1262–1278; Jinek, M., Chylinski, K., Fonfara, I., Hauer, M., Doudna, J. A., & Charpentier, E. (2012). A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science , 337, 816–821. Обзоры CRISPR , написанные простым языком, см.: Pollack, A. (11.05.2015). Jennifer Doudna, a pioneer who helped simplify genome editing. New York Times ( http://www.nytimes.com/2015/05/12/science/jennifer-doudna-crispr-cas9-genetic-engineering.html?smid=pl-share); Kahn, J. (09.11.2015). The Crispr quandary. New York Times ( http://www.nytimes.com/2015/11/15/magazine/the-crispr-quandary.html?action=click&pgtype=Homepage&region=CColumn&module=MostEmailed&version=Full&src=me&WT.nav=MostEmailed).

Baltimore, D., Berg, P., Botchan, M., Carroll, D., Charo, R. A., Church, G., et al. (2015). A prudent path forward for genomic engineering and germline gene modification. Science , 348, 36–38.

Liang, P., Xu, Y., Zhang, X., Ding, C., Huang, R., Zhang, Z., et al. (2015). CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes. Protein & Cell , 6 (5), 363–372.

Cyranoski, D., & Reardon, S. (22.04.2015). Chinese scientists genetically modify human embryos. Nature News ( http://www.nature.com/news/chinese-scientists-genetically-modify-human-embryos-1.17378).

Cressey, D., Abbott, A., & Ledford, H. (18.09.2015). UK scientists apply for licence to edit genes in human embryos. Nature News ( http://www.nature.com/news/uk-scientists-apply-for-licence-to-edit-genes-in-human-embryos-1.18394).

Yang, L., Güell, M., Niu, D., George, H., Lesha, E., Grishin, D., et al. (2015). Genome-wide inactivation of porcine endogenous retroviruses (PERVs). Science , 350, 1101–1104.

Конференция была проведена в декабре 2015 года с целью разработки этических принципов исследований с использованием CRISPR ( https://innovativegenomics.org/international-summit-on-human-gene-editing/).

Цитата из пятой серии документального сериала DNA: Pandora ’ s Box , PBS ( https://www.youtube.com/watch?v=qe4EW3AOgzs).

Metzl, J. F. (10.10.2014). The genetics epidemic: The revolution in DNA science and what to do about it. Foreign Affairs ( https://www.foreignaffairs.com/articles/united-states/2014-10-10/genetics-epidemic). Miller, G. (2013). Chinese eugenics. The Edge ( http://edge.org/response-detail/23838).

Winkelman, W. D., Missmer, S. A., Myers, D., & Ginsburg, E. S. (2015). Public perspectives on the use of preimplantation genetic diagnosis. Journal of Assisted Reproductive Genetics , 32, 665–675. Hudson, K., & Scott, J. (2002). Public awareness and attitudes about genetic technology . Washington, DC: Genetics and Public Policy Center.

Duster, T. (2003). Backdoor to eugenics . New York, NY: Routledge.

Schwartz, B., Ward, A., Monterosso, J., Lyubomirsky, S., White, K., & Lehman, D. R. (2002). Maximizing versus satisficing: Happiness is a matter of choice. Journal of Personality and Social Psychology , 83, 1178–1197.

Schwartz, B., Ward, A., Monterosso, J., Lyubomirsky, S., White, K., & Lehman, D. R. (2002). Maximizing versus satisficing: Happiness is a matter of choice. Journal of Personality and Social Psychology , 83, 1178–1197.

Power, R. A., Steinberg, S., Bjornsdottir, G., Rietveld, C. A., Abdellaoui, A., Nivard, M. M., et al. (2015). Polygenic risk scores for schizophrenia and bipolar disorder predict creativity. Nature Neuroscience , 18, 953–955; Andreasen, N. C. (1987). Creativity and mental illness: Prevalence rates in writers and their first-degree relatives. American Journal of Psychiatry , 144, 1288–1292.

Brenner, S. (30.10.2009). The personalized genome: Do I want to know? Gairdner Foundation 50 thAnniversary, Toronto, ON ( http://mediacast.ic.utoronto.ca/20091030-GFS-P4/index.htm).

Данные взяты из издания: Forer, B. R. (1949). The fallacy of personal validation: A classroom demonstration of gullibility. Journal of Abnormal and Social Psychology , 44, 118–123.

Smoller, J. W., Paulus, M. P., Fagerness, J. A., Purcell, S., Yamaki, L. H., Hirshfeld-Becker, D., et al. (2008). Influence of RGS2 on anxiety-related temperament, personality, and brain function. Archives of General Psychiatry , 65, 298–308.

https://www.23andme.com/you/community/thread/6235/.

Pinker, S. (7.01.2009). My genome, my self. New York Times ( http://www.nytimes.com/2009/01/11/magazine/11Genome-t.html?_r=0).

См.: Collins, F. S. (2010). The language of life . New York, NY: Harper Perennial. P. 23.

Pinker, S. (07.01.2009). My genome, my self. New York Times ( http://www.nytimes.com/2009/01/11/magazine/11Genome-t.html?_r=0).

http://www.improbable.com/hair/gallery2/.

Austin, J. C. (2010). Re-conceptualizing risk in genetic counseling: Implications for clinical practice. Journal of Genetic Counseling , 19, 228–234.

Evans, D. G. R., Blair, V., Greenhalgh, R., Hopwood, P., & Howell, A. (1994). The impact of genetic counseling on risk perception in women with a family history of breast cancer. British Journal of Cancer , 70, 934–938. Smerecnik, C. M. R., Mesters, I., Verweij, E., de Vries, N. K., & de Vries, H. (2009). A systematic review of the impact of genetic counseling on risk perception accuracy. Journal of Genetic Counseling , 18, 217–228.

Цит. по: Sheldon Reed reported in Stern, A. M. (2012). Telling genes (p. 47). Baltimore, MD: Johns Hopkins University Press.

Rothman, B. K. (1986). The tentative pregnancy (p. 43). New York, NY: Viking.

Слова Дианы Пуналес-Морехон, цит. по: Stern, A. M. (2012). Telling genes (p. 40). Baltimore, MD: Johns Hopkins University Press.

Cheung, B. Y. (2016). Out of my control: The effects of perceived genetic etiology . Unpublished doctoral dissertation: University of British Columbia.

Faraone, S. V., Smoller, J. W., Pato, C. N., Sullivan, P., & Tsuang, M. T. (2008). Editorial: The new neuropsychiatric genetics. American Journal of Medical Genetics Part B (Neuropsychiatric Genetics) , 147B, 1–2.

Benjamin, D. J., Cesarini, D., van der Loos, M. J. H. M., Dawes, C. T., Koellinger, P. D., Magnusson, P. K. E., et al. (2012). The genetic architecture of economic and political preferences. Proceedings of the National Academy of Science , 109, 8026–8031.

Критику ценности исследований GWAS см.: Goldstein, D. B. (2009). Common genetic variation and human traits. New England Journal of Medicine , 360, 1696–1698.

Dobbs, D. (21.05.2015). What is your DNA worth? BuzzFeed ( http://www.buzzfeed.com/daviddobbs/weighing-the-promises-of-big-genomics#.vjnnjJzwK).

Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature , 459, 528–533.

Bloomberg News (29.04.2009). Researchers identify autism genes that give clues to brain structure. New York Daily News ( http://www.nydailynews.com/life-style/health/researchers-identify-autism-genes-give-clues-brain-structure-article-1.360034).

Weiss, L. A. (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature , 461, 802–808.

Список эффектов, с которыми был связан этот ген, см.: Charney, E., & English, W. (2012). Candidate genes and political behavior. American Political Science Review , 106, 1–34.

Величина воздействия гена на тягу к новизне равна d = 0,06, что соответствует R 2чуть меньше 0,001 (см.: Kluger, A. N., Siegfried, Z., & Ebstein, R. P. (2002). A meta-analysis of the association between DRD4 polymorphism and novelty seeking. Molecular Psychiatry , 7, 712–717).

Эта цифра завышена потому, что существует не только два варианта числа повторов этой изменчивой области гена, от которой зависит величина его воздействия на передачу дофамина. Есть как минимум 10 вариантов количества повторов – от 2 до 11 (последнее встречается гораздо реже). Проблема в том, что в различных исследованиях разные варианты этих аллелей обозначаются как сильные или слабые в отношении влияния на передачу дофамина, что затрудняет их сравнение. Некоторые ученые только полиморфизм с 7 повторениями называют «сильным» и противопоставляют его всем остальным (например, Ebstein, R. P., et al. [1996]). Другие так же выделяют 6, 7 и 8 повторов (скажем, Swift et al. [2000]). В ряде исследований 2, 3, 4 и 5 противопоставляются 6, 7 и 8 (например, Vadenberg et al. [1997]). Еще ученые противопоставляют: 5 и 6–2, 3 и 4 (Ono et al. [1997]); 2, 3, 4, 5 и 6–7 и больше (Garcia, J. R., et al. [2010]); 2, 3 и 4–5, 6 и 7 (Tomitaka et al. [1999]); 2, 3 и 4–5, 6, 7, 8, 9, 10 и 11 (Chen et al., 1999); 7 и 2 – всем остальным (Reist et al. [2007]) и, наконец, 7 и 2–4 (Kitayama et al. [2014]). См.: Chen, C., Burton, M., Greenberger, E., & Dmitrieva, J. (1999). Population migration and the variation of dopamine D4 receptor (DRD4) allele frequencies around the globe. Evolution and Human Behavior , 20, 309–324; Ebstein, R. P., et al. (1996). Dopamine D4 receptor (DRD4) exon III polymorphism associated with the human personality trait of novelty seeking. Nature Genetics , 12, 78–80; Garcia, J. R., MacKillop, J., Aller, E. L., Merriwether, A. M., Wilson, D. S., & Lum, J. K. (2010). Associations between dopamine D4 receptor gene variation with both infidelity and sexual promiscuity. PLoS ONE 5 (11): e14162; Kitayama, S., King, A., Yoon, C., Tompson, S., Huff, S., & Liberzon, I. (2014). The dopamine D4 receptor gene (DRD4) moderates cultural difference in independent versus interdependent social orientation. Psychological Science , 25, 1169–1177; Ono, Y., Manki, H., Yoshimura, K., Muramatsu, T., Mizushima, H., Higuchi, S., et al. (1997). Association between dopamine D4 receptor (D4DR) exon III polymorphism and novelty seeking in Japanese subjects. American Journal of Medical Genetics , 74, 501–503; Reist, C., Ozdemir, V., Wang, E., Hashemzadeh, M., Mee, S., & Moyzis, R. (2007). Novelty seeking and the dopamine D4 receptor gene (DRD4) revisited in Asians. American Journal of Medical Genetics Part B , 144B, 453–457; Swift, G., Larsen, B., Hawi, Z., & Gill, J. (2000). Novelty seeking traits and D4 dopamine receptors . American Journal of Medical Genetics , 96, 222–223; Tomitaka, M., Tomitaka, S., Otuka, Y., Kim, K., Matuki, H., Sakamoto, K., et al. (1999). Association between novelty seeking and dopamine receptor D4 (DRD4) exon III polymorphism in Japanese subjects. American Journal of Medical Genetics , 88, 469–471; Vandenbergh, D. J., Zonderman, A. B., Wang, J., Uhl, G. R., & Costa, P. T. Jr. (1997). No association between novelty seeking and dopamine D4 receptor (D4DR) exon III seven repeat alleles in Baltimore Longitudinal Study of Aging participants. Molecular Psychiatry , 2, 417–419.