Russian Journal of GeneticsRussian Journal of GeneticsГенетика0016-67583034-5103The Russian Academy of Sciences66701710.31857/S001667582312010XQCJXMFОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИGenetics and Epigenetics of Precocious PubertyГенетика и эпигенетика преждевременного полового созреванияSazhenovaE. A.СаженоваЕ. А.elena.sazhenova@medgenetics.ruVasilyevS. A.ВасильевС. А.elena.sazhenova@medgenetics.ruRychkovaL. V.РычковаЛ. В.elena.sazhenova@medgenetics.ruKhramovaE. E.ХрамоваЕ. Е.elena.sazhenova@medgenetics.ruLebedevI. N.ЛебедевИ. Н.elena.sazhenova@medgenetics.ruScientific Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesНаучно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наукScientific Center for Family Health and Human ReproductionНаучный центр проблем здоровья семьи и репродукции человека0112202359121360137126022025Copyright ©; 2023, Е.А. Саженова, С.А. Васильев, Л.В. Рычкова, Е.Е. Храмова, И.Н. ЛебедевCopyright ©; 2023, Е.А. Саженова, С.А. Васильев, Л.В. Рычкова, Е.Е. Храмова, И.Н. Лебедев2023Е.А. Саженова, С.А. Васильев, Л.В. Рычкова, Е.Е. Храмова, И.Н. ЛебедевЕ.А. Саженова, С.А. Васильев, Л.В. Рычкова, Е.Е. Храмова, И.Н. Лебедевhttps://transsyst.ru/0016-6758/article/view/667017

Central precocious puberty (СPP) is caused by premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, epigenetic and environmental factors play a crucial role in determining the timing of puberty. In recent years, the KISS1, KISS1R, MKRN3 and DLK1 variants have been identified as hereditary causes of CPP. The MKRN3 and DLK1 genes are imprinted, and therefore epigenetic modifications that alter the expression of these genes are also considered as a cause of precocious puberty. With the progression of CPP, epigenetic factors such as DNA methylation, posttranslational modifications of histones and non-coding RNAs can mediate the relationship between the influence of genetic variants and the environment. CPP is also associated with other short- and long-term adverse health effects. This is the basis for research aimed at understanding the genetic and epigenetic causes of СPP. The purpose of this review is to summarize the literature data on the molecular genetic and epigenetic mechanisms of the formation of СPP.

Центральное преждевременное половое созревание (ППС) вызвано преждевременной реактивацией гипоталамо-гипофизарно-гонадной оси. В определении сроков полового созревания решающую роль играют генетические, эпигенетические и экологические факторы. В последние годы варианты в генах KISS1, KISS1R, MKRN3 и DLK1 были идентифицированы как наследственные причины ППС. Гены MKRN3 и DLK1 являются импринтированными, в связи с чем эпигенетические модификации, изменяющие экспрессию данных генов, также рассматриваются в качестве причины преждевременного полового созревания. При прогрессировании ППС эпигенетические факторы, такие как метилирование ДНК, посттрансляционные модификации гистонов и некодирующие РНК, могут опосредовать взаимосвязь между влиянием генетических вариантов и окружающей среды. ППС связано и с другими краткосрочными и долгосрочными неблагоприятными последствиями для здоровья. Это является основанием для исследований, направленных на понимание генетических и эпигенетических причин ППС. Цель настоящего обзора – обобщение данных литературы о молекулярно-генетических и эпигенетических механизмах формирования ППС.

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