Loop Extrusion Machinery Impairments in Models and Disease.

Autor: Ryzhkova A; Institute of Cytology and Genetics, 630090 Novosibirsk, Russia., Maltseva E; Department of Genetics and Genetic Technologies, Sirius University of Science and Technology, 354340 Sirius, Russia., Battulin N; Institute of Cytology and Genetics, 630090 Novosibirsk, Russia.; Department of Natural Sciences, Novosibirsk State University, 630090 Novosibirsk, Russia., Kabirova E; Institute of Cytology and Genetics, 630090 Novosibirsk, Russia.; Department of Natural Sciences, Novosibirsk State University, 630090 Novosibirsk, Russia.
Jazyk: angličtina
Zdroj: Cells [Cells] 2024 Nov 17; Vol. 13 (22). Date of Electronic Publication: 2024 Nov 17.
DOI: 10.3390/cells13221896
Abstrakt: Structural maintenance of chromosomes (SMC) complexes play a crucial role in organizing the three-dimensional structure of chromatin, facilitating key processes such as gene regulation, DNA repair, and chromosome segregation. This review explores the molecular mechanisms and biological significance of SMC-mediated loop extrusion complexes, including cohesin, condensins, and SMC5/6, focusing on their structure, their dynamic function during the cell cycle, and their impact on chromatin architecture. We discuss the implications of impairments in loop extrusion machinery as observed in experimental models and human diseases. Mutations affecting these complexes are linked to various developmental disorders and cancer, highlighting their importance in genome stability and transcriptional regulation. Advances in model systems and genomic techniques have provided deeper insights into the pathological roles of SMC complex dysfunction, offering potential therapeutic avenues for associated diseases.
Databáze: MEDLINE
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