Somatic mutations frequently disrupt cleavage and polyadenylation signals in tumour suppressor genes in human cancers, likely contributing to tumour progression.
Ignacy Czajewski, Bijayalaxmi Swain ... Daan MF van Aalten
Modelling O-GlcNAc transferase intellectual disability reveals the roles of this post-translational modification in regulating normal axonal terminal morphology and maintaining appropriate sleep homeostasis, pharmacological and genetic rescues of O-GlcNAcylation highlight the complexities of addressing this disorder.
A combination of genetic and biochemical approaches suggest that yeast Rev7 promotes DNA double-strand break repair via NHEJ and inhibits homologous recombination by blocking Mre11 nuclease and Rad50’s ATPase activities.
Thomas E Forman, Marcin P Sajek ... Katherine A Fantauzzo
Upon PDGFRα signaling in mouse embryonic palatal mesenchyme cells, Srsf3 exhibits differential transcript binding, resulting in retention of the receptor in early endosomes and increased downstream PI3K-mediated Akt signaling.
Nasa Sinnott-Armstrong, Stanley Fields ... Christine Queitsch
Multiplexed assays of variant effect are an increasingly important tool in genetic research and including more context specificity in their design would aid interpretation and discovery.
