FANCJ: solving problems in DNA replication.
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.
Hiom
Kevin
K
Biomedical Research Institute, Ninewells Hospital & Medical School, University of Dundee, DD1 9SY, Scotland, UK. k.hiom@dundee.ac.uk
D000818:Animals; D004265:DNA Helicases / Q000378:metabolism*; D004261:DNA Replication; D005199:Fanconi Anemia / Q000201:enzymology; D051856:Fanconi Anemia Complementation Group Proteins; D042822:Genomic Instability; D006801:Humans; D009369:Neoplasms / Q000201:enzymology
D051856:Fanconi Anemia Complementation Group Proteins; D004265:DNA Helicases