FIGURE

Fig. 6

ID

ZDB-FIG-240912-13

Publication

Fellmann et al., 2024 - An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants

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Fig. 6

A specific translational response in LCLs of patients with DBA. (A) Experimental schematic. Cells from DBA cases or from healthy controls were lysed and treated with nuclease to degrade mRNA not protected by ribosomes. Ribosome-protected mRNA was then purified and deep sequenced to quantify translational activity. (B) Histogram showing the changes in ribosome density (ribosome profiling read density divided by RNA-Seq read density) in DBA cells relative to controls. The change in mRNA levels is also shown. All DBA cells carrying the RPL17 c.217-3C>G genotype are included. (C) Gene ontologies enriched in mRNAs that have suppressed or enhanced translation. The log2 change represents the mean change in total translation across all DBA cells, with P values calculated by bootstrapping. (D) Relationships in translational activity between WT and DBA cells. Similarities are calculated by Pearson?s correlation coefficient.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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