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Science Studies Look at Rare Mutations in Head and Neck Cancer, Jojoba Genome

Using in vivo CRISPR screens, a Mount Sinai Hospital research team has discovered that many cases of head and neck squamous cell carcinoma (HNSCC) are driven by rare mutations in the NOTCH tumor suppressor signaling pathway. The scientists focused on 484 HNSCC long tail genes — ones that are recurrently but infrequently mutated in the disease — and use in vivo CRISPR screening in mice to find 15 that trigger tumor development once mutated, including two that are also mutated in human HNSCC. Notably, the wild-type versions of these two genes promote NOTCH signaling, revealing NOTCH inactivation as a hallmark of HNSCC. The findings, the authors write, may "provide translational opportunities and increase the number of patients who benefit from a pathway-specific treatment."

The genome of the desert shrub jojoba, whose seeds are a renewable source of liquid wax esters with a range of commercial applications, is presented in Science Advances this week. As reported by a team led by University of North Texas researchers, the 887-Mb genome is assembled into 26 chromosomes with 23,490 protein-coding genes, and reveals that jojoba has only whole-genome triplication shared among eudicots and no recent duplications. The reference-quality genome, the scientists write, "will be valuable to others interested in the utilization of this species as an oilseed crop and will also fill important knowledge gaps for this taxonomically isolated dioecious species and its life history and adaptations."