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Медицинская генетика

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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.

Об авторах

О. А. Земляная
ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова
Россия

115522, г. Москва, ул. Москворечье, д. 1



А. В. Ефремова
ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова
Россия

115522, г. Москва, ул. Москворечье, д. 1



И. В. Володин
ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова
Россия

115522, г. Москва, ул. Москворечье, д. 1



Д. В. Залетаев
ФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова
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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ISSN 2073-7998 (Print)