Примечания книги: Трещина в мироздании - читать онлайн, бесплатно. Автор: Сэмюел Стернберг, Дженнифер Даудна

1

Имеются в виду кухтыли – поплавки для сетей. В наши дни они обычно пластиковые, но раньше выдувались из стекла в виде больших полых шаров (примеч. науч. ред.).

2

Стоит отметить, что это вряд ли возможно. Дело не только в том, что для этого нет достаточно сохранных клеток мамонтов, но и в том, что современные слоны не скрещиваются даже с самыми близкородственными видами. Причины такой избирательности пока неизвестны, но есть вероятность, что виной тому некие генетические барьеры. См. Eleftheria Palkopoulou et al. Genomic history of extinct and living elephantids, Proceedings of the National Academy of Sciences, Mar 2018, 115 (11), E2566 – E2574; DOI:10.1073/pnas.1720554115. – Здесь и далее постраничные сноски, обозначенные астериском (*), если не указано иное, принадлежат переводчику. Сноски, обозначенные цифрами, ведут в конец книги и принадлежат автору.

3

Исследования последних лет говорят о том, что возраст человека разумного как вида больше. Работа 2017 года, в ходе которой изучались остатки Homo sapiens из марокканской пещеры Джебель-Ирхуд, показывает, что нашему виду как минимум 200 тысяч лет. См. Jean-Jacques Hublin et al. New fossils from Jebel Irhoud, Morocco and the pan-African origin of Homo sapiens, Nature, volume 546, pages 289–292 (08 June 2017), DOI: 10.1038/nature22336.

4

Модельные животные – это организмы, строение которых в достаточной степени похоже на строение человека; в ходе экспериментов на модельных животных можно уточнять механизмы развития и протекания болезней человека и определять эффективность лекарств против этих болезней.

5

Этот ген кодирует белок гентингтин. Варианты этой молекулы, которые образуются в клетках с мутациями в гене HTT, вызывают хорею Гентингтона – нарушение умственной деятельности и движений.

6

D. H. McDermott et al., “Chromothriptic Cure of WHIM Syndrome”, Cell 160 (2015): 686–699.

7

WHIM назван по его четырем основным проявлениям: warts (бородавки), hypogammaglobulinemia (гипогаммаглобулинемия, нехватка определенного типа иммуноглобулина), infections (инфекции) и myelokathexis (миелокатексис, дефицит определенных типов белых кровяных телец).

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P. J. Stephens et al., “Massive Genomic Rearrangement Acquired in a Single Catastrophic Event During Cancer Development”, Cell 144 (2011): 27–40.

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Такое соответствие называется комплементарностью, а правило, по которым одно азотистое основание становится напротив другого, называют правилом (или принципом) комплементарности.

16

Здесь не указан еще один процесс – обратная транскрипция. В ходе этого процесса по информации с молекулы РНК с помощью фермента обратной транскриптазы (ревертазы) строится молекула ДНК. Самый известный объект, использующий обратную транскрипцию, – вирус иммунодефицита человека. Он входит в довольно крупную группу ретровирусов. В ретровирусах есть только РНК, а ДНК нет. Последняя и образуется в ходе обратной транскрипции, когда эти вирусы попадают в клетки-жертвы.

17

Только в зрелом состоянии; у молодых клеток оно есть, затем утрачивается.

18

Исследование 2018 года опровергает этот тезис: Shiyu Luo et al. Biparental Inheritance of Mitochondrial DNA in Humans, PNAS, December 18, 2018, 115 (51), 13039–13044; published ahead of print November 26, 2018. DOI: 10.1073/pnas.1810946115.

19

Следует уточнить, что хотя избыток аргинина (как и других веществ), безусловно, вредит организму, но без этой аминокислоты нельзя построить белки, так что ее полное отсутствие еще более вредоносно.

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T. Friedmann, “Stanfield Rogers: Insights into Virus Vectors and Failure of an Early Gene Therapy Model”, Molecular Therapy 4 (2001): 285–288.

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В мае 2016-го Европейская комиссия дала разрешение на производство и использование стримвелиса, однако к марту 2018-го было продано всего пять курсов препарата, что и неудивительно: за год в ЕС выявляется лишь 15 случаев ТКИД с недостаточностью аденозиндезаминазы, при этом стоимость препарата – 594 тысячи евро.

24

Слово “философия” присутствует в этом названии исторически, а сама степень присуждается практически во всех научных областях (примеч. науч. ред.).

25

Постдок, или постдокторант, – ученый, недавно получивший степень доктора философии (Ph. D.) и выполняющий новую, более сложную научную работу. В постдокторантуру набирают по конкурсу и на непродолжительное время, например 2–3 года. В системе научных должностей стран бывшего СССР, перенятой от Союза, аналога постдоков нет. Наиболее близкая к ним категория в российских реалиях – “молодой ученый”, т. е. человек до 35 лет, получивший степень кандидата наук.

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K. R. Folger et al., “Patterns of Integration of DNA Microinjected into Cultured Mammalian Cells: Evidence for Homologous Recombination Between Injected Plasmid DNA Molecules”, Molecular and Cellular Biology 2 (1982): 1372–1387.

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Здесь описываются конъюгация и кроссинговер во время первого деления мейоза. В результате этого деления из одной клетки с двойным набором хромосом получается две клетки, каждая с одинарным набором хромосом.

28

Там же.

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Sce в названии фермента указывает на организм, из которого данный белок был впервые получен. Это сокращение от Saccharomyces cerevisiae, латинского названия дрожжей.

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Если точнее, премию Чеку дали за обнаружение автокаталитических свойств рибозимов – то есть не только их способности к сплайсингу (сшиванию фрагментов) самих себя, но и их способности к разрезанию самих себя.

43

Crisper – выдвижной контейнер в холодильнике для хранения фруктов и овощей.

44

В оригинале – senile felines.

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Институт бактериофагов в Тбилиси основал Георгий Григорьевич Элиава в 1923 году. Д’Эрелль приехал туда значительно позже – в 1934-м. Тем не менее в 1923-м двое ученых уже были знакомы.

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Даудна, вероятнее всего, описывает строение фага лямбда, геном которого представлен молекулой ДНК. Однако бактериофаги вместо ДНК могут содержать и РНК, что в тексте не указано.

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T.-H. Tang et al., “Identification of Novel Non-Coding RNAs as Potential Antisense Regulators in the Archaeon Sulfolobus solfataricus”, Molecular Microbiology 55 (2005): 469–481.

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Но это происходит гораздо реже, чем в случае ДНК, из-за разницы в сахарах. В каждом нуклеотиде РНК содержится сахар рибоза, и у нее по сравнению с дезоксирибозой ДНК один атом кислорода “лишний”. Именно он затрудняет образование двойных спиралей РНК.

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E. Deltcheva et al., “CRISPR RNA Maturation by Trans-Encoded Small RNA and Host Factor RNase III”, Nature 471 (2011): 602–607.

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M. Jinek et al., “A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity”, Science 337 (2012): 816–821.

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G. Gasiunas et al., “Cas9-crRNA Ribonucleoprotein Complex Mediates Specific DNA Cleavage for Adaptive Immunity in Bacteria”, Proceedings of the National Academy of Sciences of the United States of America 109 (2012): 86.

80

То есть приближен по структуре к генам человека.

81

То есть атакующей ту же мишень.

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H. Wang et al., “One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering”, Cell 153 (2013): 910–918.

84

Скрещивание потомков с представителями родительского поколения.

85

Это лишь основные, существует еще несколько аминокислот, кодируемых мРНК у различных организмов.

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90

В настоящее время выделяют около 20 000 человеческих генов.

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Разумеется, ракообразные – беспозвоночные. Тут имеется в виду их внешний скелет (примеч. науч. ред.).

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107

В ходе их реакции с аспарагином – аминокислотой, входящей в состав белков (а значит, и пищи).

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A. Pollack, “Genetically Engineered Salmon Approved for Consumption”, New York Times, November 19, 2015.

120

Углеродный след – это совокупность всех выбросов парниковых газов, возникших прямо и косвенно при производстве продукта. Например, в углеродный след выращиваемого лосося войдут в том числе и выбросы двигателя автомобиля, подвозившего корм к лососевой ферме (примеч. науч. ред.).

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Тундра – один из биотопов, хранящих и выделяющих наибольшее количество метана – одного из парниковых газов. Чтобы замедлить глобальное потепление, надо снизить выбросы метана и других соединений углерода в атмосферу. По геологическим данным, тундростепи, которые во времена мамонтов и других гигантских млекопитающих располагались на месте нынешней тундры, не так “метаногенны” – и, видимо, именно крупные звери формировали этот ландшафт. Российские ученые Сергей и Никита Зимов работают над созданием “Парка Плейстоценового периода” – обширного участка земли на широте тундры с фауной, максимально близкой к той, что была при мамонтах.

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Эти три компании – Editas Medicine, Intellia Therapeutics и CRISPR Therapeutics.

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Там же.

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В рамках русскоязычной медицинской терминологии лейкоз нельзя называть раком. В узком смысле слова рак – это злокачественная опухоль эпителиального происхождения, а клетки крови к эпителию не относятся.

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Это произошло достаточно скоро. В конце 2018 года в Китае родились первые человеческие дети-близнецы с геномом, отредактированным при помощи CRISPR. Целью было сделать их невосприимчивыми к ВИЧ. Позже китайские власти объявили, что исследования, проводимые группой Хе Цзянькуи, были несанкционированными, а сами ученые “уклонилась от контроля”. В настоящее время деятельность группы Цзянькуи прекращена, а про родившихся детей объявлено, что они “находятся под пристальным наблюдением врачей” (примеч. науч. ред.).

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Справедливости ради, это зачастую происходит и при партеногенезе, вполне естественным путем.

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Я впервые описала этот сон в интервью Майклу Спектеру, написавшему об этом в ноябре 2015-го в очерке “CRISPR” в New Yorker.

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Полный их список можно найти в публикации Национальной академии наук, Национальной инженерной академии и Национальной академии медицины США “International Summit on Human Gene Editing”, December 1–3, 2015, www.nationalacademies.org/gene-editing/Gene-Edit-Summit/index.htm.

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Такие сопряженные со старческими деменциями мутации остаются в популяции, поскольку они не снижают число потомков человека: в репродуктивном возрасте связанные с ними болезни еще не проявляются.

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В 2018 году, судя по всему, они же первыми осуществили редактирование геномов клеток человеческих эмбрионов, и эти дети уже родились (см. сноску на с. 259).

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