Новое в геномике центромер: уроки первой Т2Т-сборки хромосом человека
- Авторы: Уральский Л.И.1,2, Александров И.А.2,3,4, Рябов Ф.Д.5, Лапидус А.Л.3, Рогаев Е.И.2,6
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Учреждения:
- Научно-технологический университет “Сириус”, Научный центр генетики и наук о жизни
- Институт общей генетики им. Н.И. Вавилова Российской академии наук
- Центр биоинформатики и алгоритмической биотехнологии СПбГУ, Санкт-Петербургский государственный университет
- Федеральный исследовательский центр “Фундаментальные основы биотехнологии” Российской академии наук
- Национальный исследовательский университет “Высшая школа экономики”
- Медицинская школа Чан Массачусетского университета, Департамент психиатрии
- Выпуск: Том 65, № 3 (2023)
- Страницы: 217-231
- Раздел: Статьи
- URL: https://journals.rcsi.science/0041-3771/article/view/140082
- DOI: https://doi.org/10.31857/S0041377123030094
- EDN: https://elibrary.ru/VDUPJC
- ID: 140082
Цитировать
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
Об авторах
Л. И. Уральский
Научно-технологический университет “Сириус”, Научный центр генетики и наук о жизни; Институт общей генетики им. Н.И. Вавилова Российской академии наук
Автор, ответственный за переписку.
Email: uralskiy.li@talantiuspeh.ru
Россия, 354340, пос. гор. типа Сириус; Россия, 119991, Москва
И. А. Александров
Институт общей генетики им. Н.И. Вавилова Российской академии наук; Центр биоинформатики и алгоритмической биотехнологии СПбГУ,Санкт-Петербургский государственный университет; Федеральный исследовательский центр “Фундаментальные основы биотехнологии” Российской академии наук
Email: uralskiy.li@talantiuspeh.ru
Россия, 119991, Москва; Россия, 199034, Санкт-Петербург; Россия, 119071, Москва
Ф. Д. Рябов
Национальный исследовательский университет “Высшая школа экономики”
Email: uralskiy.li@talantiuspeh.ru
Россия, 109028, Москва
А. Л. Лапидус
Центр биоинформатики и алгоритмической биотехнологии СПбГУ,Санкт-Петербургский государственный университет
Email: uralskiy.li@talantiuspeh.ru
Россия, 199034, Санкт-Петербург
Е. И. Рогаев
Институт общей генетики им. Н.И. Вавилова Российской академии наук; Медицинская школа Чан Массачусетского университета, Департамент психиатрии
Email: uralskiy.li@talantiuspeh.ru
Россия, 119991, Москва; США, 01655, Шрусбери
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