🧬 A new report in Science Advances highlights how nonstop-mutations can alter translation initiation
Point mutations can affect all levels of gene expression, leading to dysregulation and cancer.
In a new study published in Science Advances, Pal et al. explore the effect of nonstop-mutations in VHL, a tumor suppressor gene frequently involved in kidney cancer. VHL uses two translation initiation sites to generate two different isoforms. Wild type cells predominantly use the second start codon giving rise to the abundant, short isoform. The introduction of a nonstop mutation favors the use of the first start codon, shifting the balance to the longer VHL isoform.
Read the full paper here: science.org/doi/full/10.11…
☑️ Using siPOOLs and a custom raPOOL probe set - specifically designed for VHL – the authors were able to affinity purify both wild-type and nonstop-mutated VHL mRNA, and identify differentially bound protein factors that may trigger the changed preference of the ribosome.
Point mutations can affect all levels of gene expression, leading to dysregulation and cancer.
In a new study published in Science Advances, Pal et al. explore the effect of nonstop-mutations in VHL, a tumor suppressor gene frequently involved in kidney cancer. VHL uses two translation initiation sites to generate two different isoforms. Wild type cells predominantly use the second start codon giving rise to the abundant, short isoform. The introduction of a nonstop mutation favors the use of the first start codon, shifting the balance to the longer VHL isoform.
Read the full paper here: science.org/doi/full/10.11…
☑️ Using siPOOLs and a custom raPOOL probe set - specifically designed for VHL – the authors were able to affinity purify both wild-type and nonstop-mutated VHL mRNA, and identify differentially bound protein factors that may trigger the changed preference of the ribosome.
