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 language | English (US) |
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Title of host publication | DNA Replication, Recombination, and Repair |
Subtitle of host publication | Molecular Mechanisms and Pathology |
Publisher | Springer Japan |
Pages | 175-210 |
Number of pages | 36 |
ISBN (Electronic) | 9784431558736 |
ISBN (Print) | 9784431558712 |
DOIs | |
State | Published - 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