Journal of Genetic Medicine

  • 제13권1호
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  • Pages.1-13
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  • 2016
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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DNA damage to human genetic disorders with neurodevelopmental defects

  • Lee, Youngsoo (Genomic Instability Research Center and Department of Biomedical Sciences, Ajou University School of Medicine) ;
  • Choi, Inseo (Genomic Instability Research Center and Department of Biomedical Sciences, Ajou University School of Medicine) ;
  • Kim, Jusik (Genomic Instability Research Center and Department of Biomedical Sciences, Ajou University School of Medicine) ;
  • Kim, Keeeun (Genomic Instability Research Center and Department of Biomedical Sciences, Ajou University School of Medicine)
  • 투고 : 2015.11.02
  • 심사 : 2015.11.23
  • 발행 : 2016.06.30
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초록

Although some mutations are beneficial and are the driving force behind evolution, it is important to maintain DNA integrity and stability because it contains genetic information. However, in the oxygen-rich environment we live in, the DNA molecule is under constant threat from endogenous or exogenous insults. DNA damage could trigger the DNA damage response (DDR), which involves DNA repair, the regulation of cell cycle checkpoints, and the induction of programmed cell death or senescence. Dysregulation of these physiological responses to DNA damage causes developmental defects, neurological defects, premature aging, infertility, immune system defects, and tumors in humans. Some human syndromes are characterized by unique neurological phenotypes including microcephaly, mental retardation, ataxia, neurodegeneration, and neuropathy, suggesting a direct link between genomic instability resulting from defective DDR and neuropathology. In this review, rare human genetic disorders related to abnormal DDR and damage repair with neural defects will be discussed.

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참고문헌

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