Open AccessMutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia
Author(s) -
Hiregange DishaGajanan,
Rivalta Andre,
Yonath Ada,
Zimmerman Ella,
Bashan Anat,
Yonath Hagith
Publication year - 2022
Publication title -
febs open bio
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.718
H-Index - 31
ISSN - 2211-5463
DOI - 10.1002/2211-5463.13444
Subject(s) - diamond–blackfan anemia , ribosome biogenesis , ribosome , biology , biogenesis , ribosomal protein , gene , pseudogene , genetics , mutation , rna , protein biosynthesis , computational biology , microbiology and biotechnology , genome
Ribosomes, the cellular organelles translating the genetic code to proteins, are assemblies of RNA chains and many proteins (RPs) arranged in precise fine‐tuned interwoven structures. Mutated ribosomal genes cause ribosomopathies, including Diamond Blackfan anemia (DBA, a rare heterogeneous red‐cell aplasia connected to ribosome malfunction) or failed biogenesis. Combined bioinformatical, structural, and predictive analyses of potential consequences of possibly expressed mutations in eS19, the protein product of the highly mutated RPS19, suggest that mutations in its exposed surface could alter its positioning during assembly and consequently prevent biogenesis, implying a natural selective strategy to avoid malfunctions in ribosome assembly. A search for RPS19 pseudogenes indicated > 90% sequence identity with the wild‐type, hinting at its expression in cases of absent or truncated gene products.