FANCONI ANEMIA I AND D2 COMPLEX

Brookhaven Science Assoc-Brookhaven Lab, Upton NY

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Abstract

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Fanconia Anemia (FA) is a genetic disease that predisposes individuals to incidences of cancer, including leukemia and solid tumors. Moreover, some of FA gene products interact with the components of the BRCA pathway. The key downstream components in the FA pathway are the FA-I and FA-D2 gene products, whose mono-ubiquitinations are thought to be a key event in the repair process. Mutations that affect the mono-ubiquitination of these products or disrupting obligatory association between the two proteins are thought to be causative factors for the disease phenotypes. Thus, structural information for the FA-I/D2 complex is critical in assessing the molecular basis for FA-related cancers and elucidate the DNA repair mechanisms of cross-link and double-stranded break lesions.