Trisomies Reorganize Human 3D Genome

Zhegalova, I.V.; Vasiluev, P.A.; Flyamer, I.M.; Shtompel, A.S.; Glazyrina, E.; Shilova, N.; Minzhenkova, M.; Markova, Z.; Petrova, N.V.; Dashinimaev, E.B.; Razin, S.V.; Ulianov, S.V.

Авторы: Zhegalova Irina V., Vasiluev Petr A., Flyamer Ilya M., Shtompel Anastasia S., Glazyrina Eugene, Shilova Nadezda, Minzhenkova Marina, Markova Zhanna, Petrova Natalia V., Dashinimaev Erdem B., Razin Sergey V., Ulianov Sergey V.
Журнал: International Journal of Molecular Sciences
Том: 24
Номер: 22
Год издания: 2023
Издательство: MDPI
Местоположение издательства: Basel, Switzerland
Первая страница: 16044
Последняя страница: 16044
DOI: 10.3390/ijms242216044
Аннотация: Trisomy is the presence of one extra copy of an entire chromosome or its part in a cell nucleus. In humans, autosomal trisomies are associated with severe developmental abnormalities leading to embryonic lethality, miscarriage or pronounced deviations of various organs and systems at birth. Trisomies are characterized by alterations in gene expression level, not exclusively on the trisomic chromosome, but throughout the genome. Here, we applied the high-throughput chromosome conformation capture technique (Hi-C) to study chromatin 3D structure in human chorion cells carrying either additional chromosome 13 (Patau syndrome) or chromosome 16 and in cultured fibroblasts with extra chromosome 18 (Edwards syndrome). The presence of extra chromosomes results in systematic changes of contact frequencies between small and large chromosomes. Analyzing the behavior of individual chromosomes, we found that a limited number of chromosomes change their contact patterns stochastically in trisomic cells and that it could be associated with lamina-associated domains (LAD) and gene content. For trisomy 13 and 18, but not for trisomy 16, the proportion of compacted loci on a chromosome is correlated with LAD content. We also found that regions of the genome that become more compact in trisomic cells are enriched in housekeeping genes, indicating a possible decrease in chromatin accessibility and transcription level of these genes. These results provide a framework for understanding the mechanisms of pan-genome transcription dysregulation in trisomies in the context of chromatin spatial organization.
Добавил в систему: Ульянов Сергей Владимирович

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