The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery

• Published in: The Journal of pathology Vol. 241; no. 2; pp. 192 - 207
• Main Author: O'Driscoll, Mark
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.01.2017; Wiley Subscription Services, Inc
• Subjects: Animals; cancer; Cell Transformation, Neoplastic; Chromatin - genetics; DNA Repair; DNA Replication; genomic instability; Genomic Instability - genetics; growth retardation; Humans; mutagenesis; Mutation - genetics; origins; pre‐replication complex; replication stress; R‐loops; replication stress; pre-replication complex; origins; cancer; growth retardation; R-loops; genomic instability; mutagenesis

Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers, including regional topological constraints imposed by chromatin architecture and processes such as transcription, catenation of the helical polymer and spontaneously generated DNA les...