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This Week in PNAS: Jun 20, 2017

In the early, online edition of the Proceedings of the National Academy of Sciences, researchers from Cold Spring Harbor Laboratory, New York Genome Center, and elsewhere describe an analytical method for assessing shared variants with potential ties to autism spectrum disorder, which they demonstrated using family data from the Simons Simplex Collection and the Autism Genetic Resource Exchange. The approach — called affected to discordant sibling pairs, or A2DS — involves comparisons between a sibling with the condition of interest relative to group of unaffected siblings, the authors note. "We developed a statistical method that detects if shared ancestral genetic variants contribute to a disorder by analyzing common variant data from cohorts that include discordant sibling pairs," they write.

A team from China, the US, and Canada present findings from a genome-wide knockout screen done to search for RNA processing genes contributing to growth in a prostate cancer cell line using CRISPR/Cas9 gene editing. The search led to HNRNPL and other genes involved in spliceosome functions or RNA binding, the researchers report, while follow-up experiments explored HNRNPL's interactions and role in RNA splicing. "[B]oth HNRNPL and its RNA targets are aberrantly expressed in human prostate tumors, supporting their clinical relevance," the authors note. "Collectively, our data reveal HNRNPL and its RNA clients as players in prostate cancer growth and potential therapeutic targets."

Finally, City of Hope investigators outline proposed treatment targets in hereditary pancreatic cancer that were identified through experiments done in a mice with lower-than-usual levels of the BRCA2 gene — a model for familial pancreatic ductal adenocarcinoma cancer cases involving germline BRCA2 mutations. Along with analyses of DNA double-strand breaks in pancreatic tissue taken before and after tumor formation in the BRCA2-deficient mice, the team examined the tumor representation of reactive nitrogen species suspected of contributing to DNA breaks and other forms of DNA damage repaired by the BRCA2 pathway. Indeed, the pancreatic tumors tended to contain enhanced levels of reactive nitrogen species, investigators say, while treatment with an antioxidant staunched DNA damage and delayed pancreatic cancer onset in the mice.