Ercc6, also known as excision repair cross-complementing group 6, is involved in DNA repair processes [2,4]. Mutations in this gene can lead to Cockayne syndrome (CS) [2]. The gene plays a crucial role in maintaining genomic stability, which is essential for normal cellular function and development. Genetic models, such as gene knockout (KO) and conditional knockout (CKO) mouse models, are valuable tools for studying its functions.

In non-small cell lung cancer (NSCLC), ERCC6 is highly expressed and its high expression is associated with poor overall survival. Knockdown of ERCC6 in NSCLC cells significantly suppresses cell proliferation, colony formation, and migration, while accelerating apoptosis both in vitro and in vivo. It was also found that ERCC6 knockdown attenuated the expression levels of Bcl-w, CCND1, and c-Myc [1]. In spinal cord injury (SCI) mouse models, ERCC6 expression was upregulated. Blockage of ERCC6 by si-RNA-carrying lentivirus alleviated neuronal damage, apoptosis, macrophage infiltration, inflammatory response, astrocyte and microglia activation, cell senescence, and oxidative stress, indicating its role in mediating these physiological processes [3].

In conclusion, Ercc6 is essential for DNA repair and maintaining genomic stability. Model-based research, especially KO/CKO mouse models, has revealed its significant roles in diseases such as NSCLC and SCI. These findings suggest that Ercc6 could potentially be a therapeutic target for treating related diseases.

References:

1. Luo, Hui, Xiao, Zhehao, Huang, Cheng, Wu, Wei, Xie, Qingbin. 2023. ERCC6 plays a promoting role in the progression of non-small cell lung cancer. In Biochemistry and cell biology = Biochimie et biologie cellulaire, 101, 246-258. doi:10.1139/bcb-2022-0220. https://pubmed.ncbi.nlm.nih.gov/36802454/

2. Sartorelli, Jacopo, Travaglini, Lorena, Macchiaiolo, Marina, Bertini, Enrico Silvio, Nicita, Francesco. 2024. Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms. In Genes, 15, . doi:10.3390/genes15040508. https://pubmed.ncbi.nlm.nih.gov/38674442/

3. Zou, Peng, Zhang, Xiaoping, Zhang, Rui, Yang, Junsong, Liao, Bo. 2022. Blockage of ERCC6 Alleviates Spinal Cord Injury Through Weakening Apoptosis, Inflammation, Senescence, and Oxidative Stress. In Frontiers in molecular biosciences, 9, 853654. doi:10.3389/fmolb.2022.853654. https://pubmed.ncbi.nlm.nih.gov/35392536/

4. Baas, Dominique C, Despriet, Dominiek D, Gorgels, Theo G M F, Dean, Michael, Bergen, Arthur A B. 2010. The ERCC6 gene and age-related macular degeneration. In PloS one, 5, e13786. doi:10.1371/journal.pone.0013786. https://pubmed.ncbi.nlm.nih.gov/21072178/