Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Pisa, Italy.
Gene. 2020 Jun 15;743:144612. doi: 10.1016/j.gene.2020.144612. Epub 2020 Mar 25.
Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. As a member of the cohesin ring, SMC1A takes part in gene transcription regulation and genome organization; and it participates in the DNA Damage Repair (DDR) pathway, being phosphorylated by Ataxia Telangiectasia Mutated (ATM) and Ataxia Telangiectasia and Rad3 Related (ATR) threonine/serine kinases. It is also a component of the Recombination protein complex (RC-1) involved in DNA repair by recombination. SMC1A pathogenic variants have been described in Cornelia de Lange syndrome (CdLS), a human rare disease, and recently SMC1A variants have been associated with epilepsy or resembling Rett syndrome phenotype. Finally, SMC1A variants have been identified in several human cancers. In this review, our current knowledge of the SMC1A gene has been summarized.
结构维持染色体（SMC）是参与多种 DNA 交易的大环复合物的一部分。在 SMC 中，SMC1A 基因是独特的。它编码着黏合蛋白核心复合物的一个亚基，将姐妹染色单体连接在一起，以确保有丝分裂和减数分裂中正确的染色体分离。作为黏合环的一员，SMC1A 参与基因转录调控和基因组组织；它参与 DNA 损伤修复（DDR）途径，被共济失调毛细血管扩张突变（ATM）和共济失调毛细血管扩张症和 Rad3 相关（ATR）丝氨酸/苏氨酸激酶磷酸化。它也是涉及重组的重组蛋白复合物（RC-1）的一个组成部分。SMC1A 的致病性变体已在 Cornelia de Lange 综合征（CdLS）中描述，这是一种人类罕见疾病，最近 SMC1A 变体与癫痫或类似于雷特综合征表型有关。最后，在几种人类癌症中也发现了 SMC1A 变体。在这篇综述中，总结了我们目前对 SMC1A 基因的了解。
