DBA paper accepted for publication!

In a fantastic collaboration with the Sarinay Lab , we characterized a non-canonical splice variant in an intron of RPL11. This mutation is causative for Diamond Blackfan Anemia (DBA) in a family despite incomplete penetrance and variable expressivity. Our analyses revealed a complex pattern of disruptions with many novel junctions of RPL11. We observed that RPL11 transcript abundance is comparable among carriers regardless of symptom severity. Interestingly, both the small and large ribosomal subunit transcripts were significantly overexpressed in individuals with a history of anemia in addition to congenital abnormalities. Finally, we discovered that coordinated expression between mitochondrial components and RPL11 was lost in all carriers, which may lead to variable expressivity. Overall, this study highlights the importance of RNA splicing and expression analyses in families for molecular characterization of Mendelian diseases. Here is a link to the paper in Genomics. Congrats to Brendan, Hosei, Hakan and our collaborator Colleen!