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Science Papers on Role of De Novo Missense Variants in Autism, Potential Colorectal Cancer Therapeutic Targets

A genetic analysis of thousands of individuals with autism spectrum disorder (ASD) reveals new details about the impact of de novo missense variants on the condition. As they reported in Science Translational Medicine, investigators from Baylor College of Medicine used a computational prediction method to examine genetic data and missense variants in 2,384 individuals with autism, as well as 1,792 unaffected siblings. They identified missense variants in 398 genes representing 23 pathways that are computationally predicted to affect axonogenesis, synaptic transmission, and neurodevelopment pathways. Moreover, both missense de novo variants and rare inherited missense variants correlated with patient IQ, demonstrating a direct relationship to patient phenotype. The scientists write that they approach could be used to study other multigenic diseases and phenotypes. GenomeWeb has more on this, here.

Using a CRISPR-Cas9 screen, scientists from the Hudson Institute of Medical Research and their collaborators have identified new potential therapeutic targets for colorectal cancer. The scientists focused their screen on the WNT/beta-catenin pathway, which plays a key role in colorectal cancer growth when aberrantly activated, and identified the histone methyltransferase KMT2A as a unique epigenetic regulator of beta-catenin signaling. Combining epigenomic and transcriptional profiling, they further showed that KMT2A loss diminishes the binding of beta-catenin to consensus DNA motifs and the transcription of beta-catenin targets in CRC. The researchers also found that disrupting, but not completely deleting, KMT2A can impact the growth of colorectal cancer organoids, suggesting that the gene could be a therapeutic target for the disease.