August 1, 2024JCI InsightOpen Access

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants

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Authors

FFFlorence FellmannOnco Lille CSCarol SaundersUniversity of Central Florida MOMarie-Françoise O’DonohueCentre National de la Recherche Scientifique

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Implication

Genetic and biochemical analysis demonstrates pathogenic RPL17 variants cause Diamond-Blackfan anemia in affected pedigrees, highlighting defects from ribosomal haploinsufficiency.

Key Points

RPL17 variants lead to Diamond-Blackfan anemia syndrome through ribosomal haploinsufficiency, impairing normal erythroid proliferation in patient pedigrees.
Between 10% and 20% of mature 60S ribosomal subunits incorporate an atypical short 5.8S rRNA species while remaining actively engaged in protein translation.
Findings in zebrafish larvae confirm RPL17 pathogenicity and suggest that translation defects arise from ribosomal insufficiency rather than altered composition.

Cite This Study

Fellmann et al. (2024) studied this question.

synapsesocial.com/papers/68e5dd9eb6db6435875738d7 https://doi.org/10.1172/jci.insight.172475

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Implication

Genetic and biochemical analysis demonstrates pathogenic RPL17 variants cause Diamond-Blackfan anemia in affected pedigrees, highlighting defects from ribosomal haploinsufficiency.

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants

Discussion

Member takes

Implication

Key Points

Cite This Study

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants

Discussion

Member takes

Implication

Key Points

Cite This Study

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