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Higher-order Genome Organization in Human Disease

机译:人类疾病中的高级基因组组织

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摘要

Genomes are organized into complex higher-order structures by folding of the DNA into chromatin fibers, chromosome domains, and ultimately chromosomes. The higher-order organization of genomes is functionally important for gene regulation and control of gene expression programs. Defects in how chromatin is globally organized are relevant for physiological and pathological processes. Mutations and transcriptional misregulation of several global genome organizers are linked to human diseases and global alterations in chromatin structure are emerging as key players in maintenance of genome stability, aging, and the formation of cancer translocations.
机译:通过将DNA折叠成染色质纤维,染色体结构域,最终折叠成染色体,基因组被组织成复杂的高级结构。基因组的高级组织在功能上对基因调控和基因表达程序的控制很重要。染色质整体组织方式的缺陷与生理和病理过程有关。几种全球基因组组织者的突变和转录失调与人类疾病有关,染色质结构的整体改变正在成为维持基因组稳定性,衰老和癌症易位形成的关键因素。

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