2:20 PM - 2:50 PM
[21p-B200-4] Molecular mechanisms of the genome maintenance system and human disorders associated with genome instability
Keywords:DNA repair, genome maintenance, genetic disorders
Our genome DNA is constantly challenged by various endogenous and exogenous DNA damaging activities. To maintain genome integrity, human cells developed a series of DNA repair mechanisms as well as DNA damage response systems (the DDR system). In addition, we are aware of various human genetic disorders associated with deficiencies in the DDR system, so called 'Genome Instability Disorders'. In this presentation, I will focus on the transcription-coupled-repair (TCR), one of the DDR mechanism that efficiently removes DNA lesions located in actively transcribed regions, as well as molecular pathogenesis of human progeroid syndromes associated with the lack of TCR.