medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2024.04.3-15medgen-2458Research ArticleНАУЧНЫЙ ОБЗОРREVIEWПатология генов гистоновых лизин-метилтрансфераз и характерные эписигнатурыDisruption of histone lysine methyltransferase genes and specific episignaturesЗемлянаяО. А.ZemlianaiaO. A.

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

1, Moskvorechie st., Moscow, 115478

o.zemlyanaya@mail.ruЕфремоваА. В.EfremovaA. V.

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

1, Moskvorechie st., Moscow, 115478

ВолодинИ. В.VolodinI. V.

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

1, Moskvorechie st., Moscow, 115478

ЗалетаевД. В.ZaletaevD. V.

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

1, Moskvorechie st., Moscow, 115478

ФГБНУ Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation202413072024234315Copyright © Земляная О.А., Ефремова А.В., Володин И.В., Залетаев Д.В., 20242024Земляная О.А., Ефремова А.В., Володин И.В., Залетаев Д.В.Zemlianaia O.A., Efremova A.V., Volodin I.V., Zaletaev D.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2458

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.

Time-appropriate, stage-by-stage development of tissues and organs is achieved by coordinated operation of epigenetic mechanisms of gene expression regulation (DNA methylation, histone modifications, effects mediated by non-coding RNAs). It has been established that disruption of one single component of epigenetic regulation leads to changes in the functioning of others. Over the past 10 years there have been discovered more than 60 epigenomic signatures representing unique genome methylation patterns specific for hereditary disorders associated with disruption of the epigenetic machinery. The episignature can partially determine phenotypic traits and potentially serve as a reliable diagnostic tool due to its high specificity. This review aims to shed light on one of the central links of epigenetic regulation, histone methylation, as well as hereditary diseases that develop when it is disrupted, and the episignatures specific for these syndromes.

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The authors declare that there are no conflicts of interest present.