Cohesin subunit RAD21: From biology to disease

被引:66
作者
Cheng, Haizi [1 ,2 ]
Zhang, Nenggang [1 ,2 ]
Pati, Debananda [1 ,2 ,3 ]
机构
[1] Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Baylor Coll Med, Mol & Cellular Biol, Houston, TX 77030 USA
基金
美国国家卫生研究院;
关键词
RAD21; Cohesin; DNA Repair; CDLS; Cohesionpathy; Haematopoiesis; SISTER-CHROMATID COHESION; DE-LANGE-SYNDROME; ACUTE MYELOID-LEUKEMIA; DOUBLE-STRAND BREAKS; GENE-EXPRESSION; FISSION YEAST; HUMAN-CELLS; S-PHASE; MUTATIONS CAUSE; BUDDING YEAST;
D O I
10.1016/j.gene.2020.144966
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
RAD21 (also known as KIAA0078, NXP1, HR21, Mcd1, Scc1, and hereafter called RAD21), an essential gene, encodes a DNA double-strand break (DSB) repair protein that is evolutionarily conserved in all eukaryotes from budding yeast to humans. RAD21 protein is a structural component of the highly conserved cohesin complex consisting of RAD21, SMC1a, SMC3, and SCC3 [STAG1 (SA1) and STAG2 (SA2) in metazoans] proteins, involved in sister chromatid cohesion. This function is essential for proper chromosome segregation, post-replicative DNA repair, and prevention of inappropriate recombination between repetitive regions. In interphase, cohesin also functions in the control of gene expression by binding to numerous sites within the genome. In addition to playing roles in the normal cell cycle and DNA DSB repair, RAD21 is also linked to the apoptotic pathways. Germline heterozygous or homozygous missense mutations in RAD21 have been associated with human genetic disorders, including developmental diseases such as Cornelia de Lange syndrome (CdLS) and chronic intestinal pseudo-obstruction (CIPO) called Mungan syndrome, respectively, and collectively termed as cohesinopathies. Somatic mutations and amplification of the RAD21 have also been widely reported in both human solid and hematopoietic tumors. Considering the role of RAD21 in a broad range of cellular processes that are hot spots in neoplasm, it is not surprising that the deregulation of RAD21 has been increasingly evident in human cancers. Herein, we review the biology of RAD21 and the cellular processes that this important protein regulates and discuss the significance of RAD21 deregulation in cancer and cohesinopathies.
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页数:14
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