Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disorder characterized
by bone marrow failure with significant predisposition to the development of poor prognosis
myelodysplasia and leukemia, exocrine pancreatic failure and metaphyseal
chondrodysplasia. Although the SBDS gene mutated in this disorder is highly conserved in
Archaea and all eukaryotes, the function is unknown. To interpret the molecular
consequences of SDS-associated mutations, we have solved the crystal structure of the …