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三维空间中的黏连蛋白:发育、分化与疾病

Cohesin in 3D: development, differentiation, and disease.

作者信息

Solé-Ferran Maria, Losada Ana

机构信息

Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.

Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain

出版信息

Genes Dev. 2025 Jun 2;39(11-12):679-696. doi: 10.1101/gad.352671.125.

Abstract

Cohesin contributes to genome spatial organization and sister chromatid cohesion. In this way, it not only supports accurate chromosome segregation and efficient DNA repair but also regulates gene expression. These functions are essential during embryonic development, the process that converts the fertilized egg into a complex organism with billions of specialized cells organized into tissues and organs. Here, we briefly summarize current knowledge on how cohesin and its associated factors perform chromatin looping and cohesion. We then review studies addressing their contribution to cell differentiation and embryonic development. Finally, we discuss cohesinopathies, human developmental syndromes caused by cohesin dysfunction.

摘要

黏连蛋白有助于基因组的空间组织和姐妹染色单体黏连。通过这种方式,它不仅支持准确的染色体分离和高效的DNA修复,还调节基因表达。这些功能在胚胎发育过程中至关重要,胚胎发育是一个将受精卵转化为一个由数十亿个特化细胞组成的复杂生物体的过程,这些细胞组织成组织和器官。在这里,我们简要总结了关于黏连蛋白及其相关因子如何进行染色质环化和黏连的现有知识。然后,我们回顾了探讨它们对细胞分化和胚胎发育贡献的研究。最后,我们讨论了黏连蛋白病,即由黏连蛋白功能障碍引起的人类发育综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e77d/12128871/6fd25dece7cf/679f01.jpg

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