Роль микроцефалина в нейрогенезе и эволюции головного мозга человека

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Аннотация

Первичная микроцефалия представляет собой тяжелую патологию развития головного мозга человека, основным фенотипическим проявлением которой является уменьшение его размера и умственная отсталость разной степени тяжести. Микроцефалин 1 (MCPH1) – первый ген, для которого была установлена связь с первичной микроцефалией. Кодируемый им белок микроцефалин (MCPH1) обладает широким спектром функций, нарушения которых могут негативно влиять на нейрогенез. Настоящий обзор посвящен описанию клинических случаев MCPH1-опосредованной микроцефалии, а также животных моделей с мутациями в различных доменах MCPH1. Отдельное внимание уделено роли MCPH1 в эволюции мозга человека.

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А. М. Юнусова

Федеральный исследовательский центр, Институт цитологии и генетики Сибирского отделения РАН

Автор, ответственный за переписку.
Email: anastasiajunusova@gmail.com
Россия, Новосибирск

Т. А. Шнайдер

Федеральный исследовательский центр, Институт цитологии и генетики Сибирского отделения РАН

Email: anastasiajunusova@gmail.com
Россия, Новосибирск

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2. Рис. 1. Функции микроцефалина (MCPH1): 1) участвует в репарации ДНК посредством деконденсации хроматина (через комплекс SWI/SNF), привлечения факторов репарации (BRCA2 и RAD51), а также путем усиления сигнала амплификации ATR-сигнального пути за счет взаимодействия с TopBP1; 2) регулирует стабильность теломер и в случае их дисфункции привлекает факторы репарации ДНК, а также способствует разрешению репликационного стресса в теломерных районах; 3) в интерфазном ядре поддерживает трехмерную организацию хроматина путем ингибирования взаимодействие комплексов конденсина II с хроматином; контролирует клеточный цикл посредством регуляции Chk 1–Cdc 2 5b; 4) через взаимодействие с E 2F 1 активирует экспрессию белков, участвующих в репарации ДНК, контроле клеточного цикла и апоптоза; 5) репрессирует экспрессию hTERT. Красными крестами отмечены те взаимосвязи, которые оказываются нарушенным при деплеции MCPH1. Рисунок выполнен с помощью сервиса BioRender (https://biorender.com).

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3. Рис. 2. Схематичное строение гена MCPH1 и расположение мутаций, описанных у пациентов с микроцефалией. Экзоны обозначены черными прямоугольниками; Δ – делеции экзонов. Мутации, выделенные красным, идентифицированы в базе данных проекта DECIPHER у пациентов, имеющих признаки микроцефалии и задержки роста. Рисунок выполнен с помощью сервиса BioRender (https://biorender.com).

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4. Рис. 3. Схематическое расположение мутаций и их фенотипическое проявление в трансгенных мышах с мутациями Mcph1. Треугольники, расположенные в интронах фланкируют удаленные экзоны в трансгенных линиях мышей. Треугольники над интронами указывают место интеграции кассеты для создания делеций. Рисунок выполнен с помощью сервиса BioRender (https://biorender.com).

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5. Рис. 4. MCPH1 поддерживает баланс между симметричным и асимметричным делением нейральных предшественников. Деплеция MCPH1 (Mcph1–/–) приводит к снижению центросомального пула Chk1 и активации Cdk1. Это в свою очередь вызывает преждевременный переход фаз клеточного цикла G2–M, когда созревание дочерней центросомы еще не завершено. В результате, в митозе центросомы имеют разный потенциал к организации микротрубочек, что является причиной асимметрии веретена деления. При симметричном делении происходит равномерное наследование белков и обе дочерние клетки сохраняют пролиферативный потенциал. Асимметричное деление приводит к неравному наследованию апикальных белков и дифференцировке клеток в нейроны. Адаптировано из: Gruber et al., 2011. Рисунок выполнен с помощью сервиса BioRender (https://biorender.com).

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