Ribosomopathies through a diamond lens

Abstract

There are an increasing number of human disorders linked to defects in ribosome synthesis collectively known as ribosomopathies. Here we use the prototypical ribosomopathy, Diamond-Blackfan anemia, to explore relationships between the structure of the ribosome, its biogenesis, and the molecular mechanisms that contribute to disease pathology. Other ribosomopathies are discussed as they relate to the genes affected and pathophysiological mechanisms involved in Diamond-Blackfan anemia. The recent finding that several genes affecting ribosome biogenesis are somatically mutated in human tumors implies that understanding the molecular mechanisms underlying this rare group of disorders will likely have much broader implications.