vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/vjgb-25-73vavilov-4753Research ArticleМЕДИЦИНСКАЯ ГЕНЕТИКАMEDICAL GENETICSМобильные элементы как ключевые регуляторы развития плацентыTransposable elements as key regulators of placental developmenthttps://orcid.org/0000-0001-6928-509XЖилкинаМ. А.ZhilkinaM. A.

Томск

Tomsk

maria.amelkina@medgenetics.ruhttps://orcid.org/0000-0001-6427-3276ТолмачёваЕ. Н.TolmachevaE. N.

Томск

Tomsk

https://orcid.org/0000-0002-5301-070XВасильевС. А.VasilyevS. A.

Томск

Tomsk

Научно-исследовательский институт медицинской генетики Томского национального исследовательского медицинского центра Российской академии наукРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesRussian Federation202504092025295666675Copyright © Жилкина М.А., Толмачёва Е.Н., Васильев С.А., 20252025Жилкина М.А., Толмачёва Е.Н., Васильев С.А.Zhilkina M.A., Tolmacheva E.N., Vasilyev S.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/4753

   Мобильные элементы (transposable elements, TE), составляющие свыше трети человеческого генома, играют ключевую роль в его эволюции, выступая важным источником регуляторных последовательностей. В норме их активность жестко контролируется механизмами метилирования ДНК, однако эффективность такого подавления существенно различается между тканями. Плацента, отличающаяся глобальным гипометилированием, представляет собой уникальную среду, где ретровирусы и ретротранспозоны, обычно молчащие в соматических клетках, получают возможность активации. Этот особый эпигенетический ландшафт плаценты позволяет транспозонам участвовать в регуляции геномной активности, оказывая влияние на процессы, протекающие от раннего эмбриогенеза до постнатального развития. Гипометилирование ДНК в плаценте не только способствует мобилизации TE, но и открывает возможность использования их компонентов в качестве самостоятельных генов и регуляторных элементов – промоторов, энхансеров и других функциональных модулей. Эти элементы вовлечены в ключевые аспекты плацентарного развития, включая формирование синцитиотрофобласта, инвазию вневорсинчатого трофобласта, ремоделирование спиральных артерий и децидуализацию эндометрия. Важно отметить, что TE могут служить источниками альтернативных промоторов для соседних генов, а древние транспозоны млекопитающих содержат множественные сайты связывания транскрипционных факторов, обеспечивая скоординированную регуляцию генов, объединенных общей функцией. Несмотря на растущий интерес к роли мобильных элементов в развитии и функционировании плаценты, многие вопросы остаются без ответа. В частности, малоизученными продолжают быть механизмы функционирования в ходе беременности ретротранспозонов, не содержащих длинных концевых повторов (non-LTR ретротранспозонов). Глубокое понимание этих процессов необходимо для прояснения нарушений регуляции в плаценте при больших акушерских синдромах. В данном обзоре рассматривается вклад мобильных элементов в функционирование генома человека, в частности их влияние на экспрессию генов, в контексте беременности и развития плаценты.

   Transposable elements (TEs), comprising over one-third of the human genome, play a crucial role in its evolution, serving as a significant source of regulatory sequences. Under normal circumstances, their activity is tightly controlled by DNA methylation mechanisms; however, the effectiveness of this suppression varies substantially across tissues. The placenta, characterized by global hypomethylation, represents a unique environment where retroviruses and retrotransposons, typically silenced in somatic cells, gain the opportunity for activation. This distinct epigenetic landscape of the placenta allows transposons to participate in the regulation of genomic activity, influencing processes ranging from early embryogenesis to postnatal development. DNA hypomethylation in the placenta not only promotes TE mobilization, but also opens the possibility of using their components as independent genes and regulatory elements – promoters, enhancers, and other functional modules. These elements are involved in key aspects of placental development, including syncytiotrophoblast formation, extravillous trophoblast invasion, spiral artery remodeling, and endometrial decidualization. Importantly, TEs can serve as sources of alternative promoters for neighboring genes, and ancient mammalian transposons contain multiple transcription factor binding sites, enabling coordinated regulation of genes sharing a common function. Despite the growing interest in the role of transposable elements in placental development and function, many questions remain unanswered. In particular, the mechanisms of non-long terminal repeat (non-LTR) retrotransposon function during pregnancy remain poorly understood. A deep understanding of these processes is necessary to elucidate regulatory disorders in the placenta associated with major obstetric syndromes. This review examines the contribution of transposable elements to the functioning of the human genome, particularly their impact on gene expression, in the context of pregnancy and placental development.

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