When ribosomes go bad: diseases of ribosome biogenesis

Abstract

Ribosomes are vital for cell growth and survival. Until recently, it was believed that mutations in ribosomes or ribosome biogenesis factors would be lethal, due to the essential nature of these complexes. However, in the last few decades, a number of diseases of ribosome biogenesis have been discovered. It remains a challenge in the field to elucidate the molecular mechanisms underlying them.

Fig. 1

Model of pre-rRNA processing in human cells. The primary pre-rRNA is transcribed and associates co-transcriptionally with processing factors. Processing can occur by either of two pathways, beginning with cleavage at site 1 or site 2, respectively. Final maturation takes place in the cytoplasm.