Decision Letter: The Molecular Basis for ANE Syndrome Revealed by the Large Ribosomal Subunit Processome Interactome
April 2016
TLDR ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
The study investigated the molecular basis of ANE syndrome by examining a missense mutation in the nucleolar protein RBM28 using yeast as a model. The mutation, a leucine to proline substitution, caused growth defects due to impaired rRNA processing and disrupted protein interactions. The research revealed that the RRM3 domain mediated protein-protein interactions, contrary to previous beliefs about RNA binding. Despite providing insights, the study faced criticism for not fully exploring the mutation's impact on 60S ribosome synthesis and technical issues. The study highlighted the mutation as a hypomorphic allele, causing moderate growth defects, and emphasized the importance of understanding ribosomopathy at a biochemical level.
