The fanconi anemia pathway and interstrand cross-link repair

Masamichi Ishiai, Junya Tomida, Akiko Itaya, James Hejna, Minoru Takata

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Fanconi anemia (FA) is a hereditary disorder characterized by bone marrow failure and genome instability that is ascribed to defective DNA interstrand cross-link (ICL) repair. In this chapter we summarize our current understanding of the function of the FA genes, the mechanism for FA pathway activation, and the processes of ICL repair in the cell. In addition, we will highlight recent evidence that implicates endogenous aldehydes in creating genomic damage in FA cells, culminating in the FA phenotypes.

Original languageEnglish (US)
Title of host publicationDNA Replication, Recombination, and Repair
Subtitle of host publicationMolecular Mechanisms and Pathology
PublisherSpringer Japan
Pages175-210
Number of pages36
ISBN (Electronic)9784431558736
ISBN (Print)9784431558712
DOIs
StatePublished - Jan 1 2016

Keywords

  • Aldehydes
  • Aldh2
  • Atr-atrip kinase
  • Fancd2
  • Fanconi anemia
  • Interstrand cross-link

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology
  • General Medicine

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