DDB p48 is mutated in individuals who have the genetic disease Xeroderma Pigmentosum (XP) Group E. Genes which are defective in the other XP complementation groups are known to be involved directly in the repair of bulky DNA adducts via Nucleotide Excision Repair (NER), including those formed by UV light. However, DDB is emerging as the exception to this rule and it appears to be involved in other functions, possibly the control of gene expression or cell cycle progression.
We are also examining the role of a putative p127 homologue in fission yeast.