Abstract
The FANCJ protein (also known as BACH1 and BRIP1) is a DNA helicase that is required to preserve the genetic and structural integrity of the genome in complex eukaryotes. In humans, mutations in FANCJ are associated with the chromosome instability disorder Fanconi's anemia and also with the inherited predisposition early-onset breast cancer. Here I will discuss the contribution of FANCJ to human disease, its role in maintenance of genome stability and some current thoughts on the mechanisms through which this is achieved. (C) 2010 Elsevier B.V. All rights reserved.
| Original language | English |
|---|---|
| Pages (from-to) | 250-256 |
| Number of pages | 7 |
| Journal | DNA Repair |
| Volume | 9 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2 Mar 2010 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- Fanconi anemia
- Helicase
- FANCJ
- DNA repair
- DNA replication
- HELICASE-LIKE PROTEIN
- IRON-SULFUR CLUSTER
- CROSS-LINK REPAIR
- G-QUADRUPLEX DNA
- HOMOLOGOUS RECOMBINATION
- CAENORHABDITIS-ELEGANS
- BREAST-CANCER
- G4 DNA
- SUBSTRATE-SPECIFICITY
- GENOMIC STABILITY
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