缺陷的 RIPK1 介导的程序性坏死
中文名称
通路描述
RIPK1 介导的程序性坏死也称为坏死性凋亡，是除凋亡外另一种重要的程序性细胞死亡。坏死性凋亡最终导致细胞裂解，细胞质内容物释放到细胞外区域。坏死性凋亡必须受到严格调控。失控或缺陷的坏死性细胞死亡往往与组织损伤相关，引发强烈的炎症反应。坏死性凋亡的缺陷可能参与各种病理过程，包括自身免疫疾病、神经退行性疾病、多种癌症和肾脏损伤。
英文描述
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) MSH2:MSH6 (MutSalpha) binds single base mismatches and unpaired loops of 1-2 nucleotides (reviewed in Edelbrock et al. 2013). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta), which mediates repair of larger mismatches, and an imbalance in the ratio can cause a mutator phenotype (Drummond et al. 1997, Marra et al. 1998). The MSH6 subunit is responsible for binding the mismatch, which activates MSH2:MSH6 to exchange ADP for ATP, adopt the conformation to allow movement on the DNA, and interact with downstream effectors PCNA, MLH1:PMS2 and EXO1. The interaction with PCNA initiates excision of the recently replicated strand. MLH1:PMS2 has endonucleolytic activity and makes a nick that is enlarged to a gap of hundreds of nucleotides by EXO1. DNA is polymerized across the gap by DNA polymerase delta and the remaining nick is sealed by DNA ligase I.
所含基因
14 个基因