Jonathan Bohlen @jonathanbohlen.bsky.social · 31/08/2026We mutated every position of the gene. Variants that block assembly into the ribosome map to the uL18/uL5 interface and activate p53. These are exactly the variants that selection has purged from human populations. 3/4 100
Jonathan Bohlen @jonathanbohlen.bsky.social · 31/08/2026Every person carries variant 5S copies, and ~10% of people express variant 5S rRNA. 2/4 100
Jonathan Bohlen @jonathanbohlen.bsky.social · 31/08/2026🧬 New preprint: "Selection and surveillance of 5S ribosomal RNA genes in human populations." The 5S rRNA genes sit in a ~80-copy array on chromosome 1, one of the least-explored parts of the genome. We traced its variation from DNA to ribosome. 1/4🧵 198
Jonathan Bohlen @jonathanbohlen.bsky.social · 04/03/2026I am very excited to share that our paper is on the cover of this month's JHI! rupress.org/jhi/issue/2/2 050
Jonathan Bohlen @jonathanbohlen.bsky.social · 15/01/2026We also found striking defects in B cell function in vivo, by studying the response to SARS.CoV2 mRNA vaccination in a subset of patients. For many more interesting obsevations and experiments, please read the paper! 4/n 110
Jonathan Bohlen @jonathanbohlen.bsky.social · 15/01/2026CBL deficient mice have defects in T cell development and function. Yet, surprisingly, the CBL deficient T cells of the patients were largely unaffected. Conversely, B cell development was strongly perturbed. 3/n 100
Jonathan Bohlen @jonathanbohlen.bsky.social · 15/01/2026We studied patients with somatic CBL deficiency. These patients often have transient myeloproliferation in childhood, and as we published recently (www.jci.org/articles/vie...) chronic autoinflammation. We noticed that our cohort of CBL deficient patients had a high rate of severe infections. 2/n 100
Jonathan Bohlen @jonathanbohlen.bsky.social · 13/11/2024I’m excited to announce our new paper that came out today! The second chapter of my Post-doc @casanova_lab, published in @jclinical-invest.bsky.social If you’re interested in the causes of autoinflammation, then this one is for you: t.co/uhVDdzqyx2 0253