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Цитология, 2023, T. 65, № 3, стр. 217-231

Новое в геномике центромер: уроки первой Т2Т-сборки хромосом человека

Л. И. Уральский 1, 2, *, И. А. Александров 2, 3, 4, Ф. Д. Рябов 5, А. Л. Лапидус 3, Е. И. Рогаев 2, 6

1 Научно-технологический университет “Сириус”, Научный центр генетики и наук о жизни
354340 пос. гор. типа Сириус, Россия

2 Институт общей генетики им. Н.И. Вавилова Российской академии наук
119991 Москва, Россия

3 Центр биоинформатики и алгоритмической биотехнологии СПбГУ, Санкт-Петербургский государственный университет
199034 Санкт-Петербург, Россия

4 Федеральный исследовательский центр “Фундаментальные основы биотехнологии” Российской академии наук
119071 Москва, Россия

5 Национальный исследовательский университет “Высшая школа экономики”
109028 Москва, Россия

6 Медицинская школа Чан Массачусетского университета, Департамент психиатрии
01655 Шрусбери, США

* E-mail: uralskiy.li@talantiuspeh.ru

Поступила в редакцию 01.12.2022
После доработки 07.12.2022
Принята к публикации 08.12.2022

Аннотация

Технологии секвенирования с длинными прочтениями, появившиеся недавно, позволили впервые прочесть полную, без пробелов, последовательность генома человека. Результатом явилась первая Т2Т (от теломеры до теломеры) геномная сборка, опубликованная одноименным международным консорциумом ученых в 2022 г. Наиболее значительным вкладом новой сборки явились центромерные области, состоящие из высокоповторяющейся сателлитной ДНК. В этом обзоре мы кратко перечислим основные достижения Т2Т-консорциума, связанные с центромерами, и более подробно рассмотрим неожиданные находки цитогенетического масштаба, которые принес анализ впервые собранных центромер человека, такие как “расщепленные” центромеры хромосом 3 и 4, мега-инверсия в активном массиве центромеры 1-ой хромосомы, гаплотипические эпиаллели в центромере Х-хромосомы и макроповторы, найденные в нескольких центромерах.

Ключевые слова: альфа-сателлит, центромера, ПВП-гаплотипы, инверсии, макроповторы, центромерные эпиаллели, Т2Т-консорциум

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