DNA Strand Break Repair and Human Genetic Disease

摘要: Deoxyribonucleic acid (DNA) is constantly exposed to exogenous and endogenous DNA damaging agents. Among the different types of damage that arise in cells, single-strand breaks (SSBs) double-strand (DSBs) are a serious threat genetic integrity cell survival. To minimise impact these lesions, cells have evolved various repair mechanisms depending on kind damage. The importance strand break highlighted by observation many proteins involved pathways mutated wide variety cancers hereditary diseases. These disorders display features. Notably, syndromes related with defects exhibit pathology restricted cerebellar ataxia neurodegeneration, whereas DSB more diverse can include developmental abnormalities, microcephaly cancer predisposition. Key Concepts: The response (DDR) signal transduction pathway starts sensing coordinates cycle, apoptosis. DDR plays an important role development preservation genome stability and, consequently, crucial for prevention normal ageing. Many diseases. Homologous recombination linked replication devoted using intact template copy information. Nonhomologous end-joining (NHEJ) ligates two ends without any template. DSB predisposition. Syndromes impaired NHEJ also show dramatic immunological highlighting during system. Syndromes neurodegeneration. Keywords: genetic instability disorders; DNA repair; single-strand break; double-strand break; homologous recombination; nonhomologuos