Abstract
Studying rare human genetic diseases often leads to a better understanding of normal cellular functions. Fanconi anemia (FA), for example, has elucidated a novel DNA repair mechanism required for maintaining genomic stability and preventing cancer. The FA pathway, an essential tumor-suppressive pathway, is required for protecting the human genome from a specific type of DNA damage; namely, DNA interstrand cross-links (ICLs). In this review, we discuss the recent progress in the study of the FA pathway, such as the identification of new FANCM-binding partners and the identification of RAD51C and FAN1 (Fanconi-associated nuclease 1) as new FA pathway-related proteins. We also focus on the role of the FA pathway as a potential regulator of DNA repair choices in response to double-strand breaks, and its novel functions during the mitotic phase of the cell cycle.
| Original language | English |
|---|---|
| Pages (from-to) | 1680-1694 |
| Number of pages | 15 |
| Journal | Genes and Development |
| Volume | 24 |
| Issue number | 16 |
| DOIs | |
| State | Published - 15 Aug 2010 |
Keywords
- DNA repair
- Fanconi anemia
- Homologous recombination (HR)
- Interstrand cross-link (ICL)
- Mitosis
- Nonhomologous end-joining (NHEJ)