In this week's Science, a University of California, Los Angeles-led research group reports on the identification of a gene in Caenorhabditis elegans that protects embryos from a toxic protein passed down from mothers. Specifically, they found that toxic products from a gene called sup-35 is deposited into fertilized eggs and will cause death in embryos that don't express a gene called pha-1. While it had previously been thought that pha-1 was essential for pharynx development based on its mutant phenotype, this phenotype actually arises from a loss of suppression of sup-35 toxicity. The findings suggest that other essential genes identified by genetic screens may turn out to be components of selfish elements.
And in Science Translational Medicine, a multi-institute research team describes combining electronic medical records with patient genetic data to identify diseases associated with variants in human leukocyte antigen (HLA) genes. The scientists used anonymized medical records and DNA sequence data from Vanderbilt University Medical Center's BioVU, including data for 28,839 individuals, and the Marshfield Clinic's Personalized Medicine Research Project, which included an additional 8,431 subjects. By joining these data sets, they were able to uncover links between different HLA types and multiple autoimmune-related diseases including type I diabetes and ankylosing spondylosis, as well as validate connections between forms of HLA and multiple sclerosis and cervical cancer.