Insight into the roles of helicase motif ia by characterizing fanconi anemia group J protein (FANCJ) patient mutations

Abstract

Background: Two Fanconi anemia patient missense mutations are localized in FANCJ helicase motif Ia. Results: Mutant R251C impairs theDNAbinding ability of FANCJ; Q255H uncouplesDNAtranslocation from helicase activity. Conclusion: Helicase motif Ia plays critical roles in FANCJ enzymatic activity and DNA repair. Significance: Helicase motif Ia is involved not only in nucleic acid binding but also ATP binding and coupling ATP hydrolysis to unwinding.© 2014 by The American Society for Biochemistry and Molecular Biology, Inc. Published in the U.S.A.