Cohesin subunit RAD21: From biology to disease.

Gene
Haizi ChengDebananda Pati

Abstract

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 w...Continue Reading

Citations

Nov 1, 2020·Epigenetics : Official Journal of the DNA Methylation Society·Zeeshan FazalMichael J Spinella
Apr 11, 2021·Seminars in Cell & Developmental Biology·James R PaulsonWilliam C Earnshaw
Apr 20, 2021·Mediators of Inflammation·Yi-Ling WenSi Qin
Jun 3, 2021·Scientific Reports·Marina Prieto-AmadorJosé-Luis Martínez-Guitarte
Aug 14, 2021·Frontiers in Molecular Biosciences·Pablo García-Gutiérrez, Mario García-Domínguez

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