Патология генов гистоновых лизин-метилтрансфераз и характерные эписигнатуры
https://doi.org/10.25557/2073-7998.2024.04.3-15
Аннотация
Согласованная работа эпигенетических механизмов регуляции экспрессии генов (метилирования ДНК, модификаций гистонов, воздействия некодирующих РНК) обеспечивает своевременное и поэтапное развитие тканей и органов. Показано, что повреждение одного звена эпигенетической регуляции приводит к изменению функционирования других ее составляющих. За последние 10 лет было открыто более 60 эпигеномных сигнатур – уникальных паттернов метилирования генома, характерных для наследственных заболеваний, ассоциированных с нарушением эпигенетического аппарата. Эписигнатура может частично обусловливать фенотипические проявления, а также потенциально служить диагностическим инструментом ввиду своей высокой специфичности. В настоящем обзоре предлагается рассмотреть одно из центральных звеньев эпигенетической регуляции – метилирование гистоновых белков, а также наследственные заболевания, развивающиеся при его нарушении, и характерные для данных синдромов эписигнатуры.
Ключевые слова
При поддержке: Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «МГНЦ» на 2024 год.
Об авторах
О. А. Земляная
ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова
Россия
Россия
115522, г. Москва, ул. Москворечье, д. 1
А. В. Ефремова
ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова
Россия
Россия
115522, г. Москва, ул. Москворечье, д. 1
И. В. Володин
ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова
Россия
Россия
115522, г. Москва, ул. Москворечье, д. 1
Д. В. Залетаев
ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова
Россия
Россия
115522, г. Москва, ул. Москворечье, д. 1
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Рецензия
Для цитирования:
Земляная О.А., Ефремова А.В., Володин И.В., Залетаев Д.В. Патология генов гистоновых лизин-метилтрансфераз и характерные эписигнатуры. Медицинская генетика. 2024;23(4):3-15. https://doi.org/10.25557/2073-7998.2024.04.3-15
For citation:
Zemlianaia O.A., Efremova A.V., Volodin I.V., Zaletaev D.V. Disruption of histone lysine methyltransferase genes and specific episignatures. Medical Genetics. 2024;23(4):3-15. (In Russ.) https://doi.org/10.25557/2073-7998.2024.04.3-15
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