TY - JOUR

T1 - Loop Extrusion Machinery Impairments in Models and Disease

AU - Ryzhkova, Anastasiya

AU - Maltseva, Ekaterina

AU - Battulin, Nariman

AU - Kabirova, Evelyn

N1 - Preparation of the review was supported by Russian Science Foundation grant №23-74-00055. Ekaterina Maltseva was supported by the grant of the state program of (Agreement 26-03).

PY - 2024/11

Y1 - 2024/11

N2 - 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.

AB - 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.

KW - 3D genome

KW - SMC

KW - cell biology

KW - chromatin structure

KW - cohesin

KW - condensin

UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85210424708&origin=inward&txGid=2cdeb8275cd1d0b7b383467d39a05300

UR - https://www.mendeley.com/catalogue/1499a9af-8562-3175-a67b-0996d17bcd9d/

U2 - 10.3390/cells13221896

DO - 10.3390/cells13221896

M3 - Article

C2 - 39594644

VL - 13

JO - Cells

JF - Cells

SN - 2073-4409

IS - 22

M1 - 1896

ER -