Jonathan Bohlen

Mechanistic 5'UTR Variant Scoring Expands Rare Variant Discovery in the UK Biobank

The paper introduces 5ULTRA, a machine-learning tool for annotating 5'UTR variants, identifying new gene-phenotype associations in the UK Biobank that are missed by existing methods.

Selection and surveillance of 5S ribosomal RNA genes in human populations

The paper identifies sequence variation in 5S rRNA genes across human populations and shows that variants disrupting ribosome assembly activate p53 and are selected against.

Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

This study uses ancient genomics to show that genetic adaptation to pathogens in post-Neolithic Europe increased inflammatory disease risk through antagonistic pleiotropy.

PRRC2 proteins regulate translation initiation by promoting leaky scanning

This study identifies PRRC2 proteins as regulators of leaky scanning during translation initiation, enhancing translation of mRNAs with upstream open reading frames.

Phosphorylation of Ribosomal Protein S6 differentially affects mRNA translation based on ORF length

The paper shows that RPS6 phosphorylation decreases during mRNA translation, affecting translation efficiency more for short CDS mRNAs than long ones.

Selective 40S footprinting reveals that scanning ribosomes remain cap-tethered in human cells

This paper introduces selective 40S footprinting to study translation initiation in human cells, revealing that scanning ribosomes remain cap-tethered and only one ribosome scans a 5UTR at a time.