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Андрология и генитальная хирургия. 2015; 16: 31-40

Генетические и эпигенетические механизмы регуляции, хронология и динамика сперматогенеза у млекопитающих

Курило Л. Ф., Штаут М. И.

https://doi.org/10.17650/2070-9781-2015-1-31-40

Аннотация

В обзоре обсуждены представления о механизмах генетической и эпигенетической регуляции многостадийного процесса – сперматогенеза. Генетический тип наследования заключен в коде ДНК; передача эпигенетической информации осуществляется механизмами, включающимися в онтогенезе функциями, не затрагивающими саму нуклеотидную последовательность ДНК. Эпигенетическая регуляция – комплексный процесс, во время которого компоненты разных групп эпигенетических модификаций (действие некодирующих РНК, метилирование ДНК, модификации гистонов и других соединений в клетке через их фосфорилирование, ацетилирование, убиквитинирование, сумоилирование) работают во взаимодействии. Нарушения любых компонентов процесса эпигенетической регуляции развития, как и генетической, могут быть причиной патологии сперматогенеза и/или бесплодия, развития ряда эпигенетических заболеваний. 

В настоящее время у человека известно более 90 импринтированных генов и локусов, локализованных на 13 хромосомах, и описано более 10 заболеваний – синдромов геномного импринтинга: синдромы Ангельмана, Прадера–Вилли, Рассела–Сильвера, Беквита–Видемана и др. Это свидетельствует о корреляции развития таких заболеваний с неординарными ситуациями при гаметогенезе, эмбриогенезе, на иных этапах жизни организма. Цитозиновое метилирование ДНК контролирует все биологические процессы: рост и развитие животных, участвует в транскрипции, репликации, репарации ДНК, клеточной дифференцировке, геномном импринтинге, инактивации Х-хромосомы, транспозиции генов, канцерогенезе. 

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Andrology and Genital Surgery. 2015; 16: 31-40

Genetic and epigenetic mechanisms of regulation, chronology and dynamics of spermatogenesis of mammals

Kurilo L. F., Shtaut M. I.

https://doi.org/10.17650/2070-9781-2015-1-31-40

Abstract

Genetic and epigenetic mechanisms of spermatogenesis – long process with many stages regulation are discussed. DNA code is the entirety of hereditary information, epigenetic mechanisms of gene regulation act without altering primary nucleotide sequences. Epigenetic regulation is a complex process, in which components of different groups of epigenetic modifications (non-coding RNAs, DNA methylation and histone modification) work together. Mistakes in any of the components of the process may cause impaired spermatogenesis and/or infertility, and may cause epigenetic diseases. 

Nowadays 90 imprinted genes and loci on 13 chromosomes are revealed. More then 10 human diseases involving genomic imprinting are known (Angelman syndrome, Prader–Willi syndrome, Russell–Silver syndrome, Beckwith–Wiedemann syndrome etc.). DNA methylation is essential for normal development and is associated with a number of key processes including animal growth and development, transcription, DNA replication and reparation, cell differentiation, genomic imprinting, X-chromosome inactivation, suppression of repetitive elements and carcinogenesis. 

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