Expression profiling by high throughput sequencing Other
Summary
DExD/H box helicases are ATPases that govern key biochemical events of host RNA metabolism including unwinding or annealing RNA, facilitating the formation or remodeling of ribonucleoprotein complexes, and controlling transcriptional or translational RNA pools essential for normal human neurodevelopment1-6. Some helicases also recognize foreign RNAs of infectious agents during immune responses but how they govern host genes essential for immunity is unknown. Here we describe a previously undiscovered genetic immunodysregulatory syndrome, due to Strawberry Notch Homolog 2 (SBNO2) deficiency, that highlights a new function of these helicases in binding to nascent transcripts of host cytokine and immune response genes near the transcription start site and increasing their expression.
Overall design
Integrating photoactivatable ribonucleoside-enhanced crosslinking and immunoprecipitation (PAR-CLIP) and RNA-seq data to reveal the function of SBNO2.
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