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This Week in PNAS: Mar 20, 2018

In the early, online edition of the Proceedings of the National Academy of Sciences, Human Longevity and JCVI researcher J. Craig Venter led a research team reporting on a genomics- and imaging-based precision medicine strategy to screen for cardiovascular disease, cancer, and other life-shortening conditions. The researchers focused on 209 symptom-free individuals between the ages of 20 years and 98 years old, using personal and family histories, whole-genome sequencing, metabolomics, pre-diabetes testing, heart rhythm monitoring, whole-body MRI, and other several other methods to evaluate age-related chronic disease risk. Their results pointed to enhanced risk for one or more conditions in 78 percent of study participants, including 124 individuals with apparent atherosclerotic disease risk. 

Researchers from the Germany, Canada, the US, and elsewhere characterize AID/APOBEC cytidine deaminase enzyme family genes in the lamprey, a jawless vertebrate. The team notes that the AID/APOBEC genes have been implicated in immune processes such as somatic diversification-dependent antibody repertoire diversification. Following from past work pointing to roles for the lamprey CDA1 and CDA2 cytidine deaminase genes in similar immune functions, the investigators used shotgun sequencing, copy number profiling, and other approaches to assess cytidine deaminase features in the European brook lamprey (Lampetra fluviatilis) and the Japanese lamprey (L. planeri). "Our findings suggest that, similar to APOBEC3 branch expansion in jawed vertebrates, the AID/APOBEC family has undergone substantial diversification in lamprey," they report, "possibly indicative of multiple distinct biological roles."

Finally, a team from the Yale School of Public Health, the State University of New York at Buffalo, and elsewhere track genome evolution in the bacterial pathogen Haemophilus influenzae as part of a long term prospective study on adults with chronic obstructive pulmonary disease (COPD). The researchers did whole-genome sequencing on 269 non-typeable H. influenza isolates collected from individuals with COPD over 15 years, using the sequence data for phylogenetic analyses, profiling at a dozen potential vaccine antigen sites, and so on. Along with strain persistence spanning up to almost four years, for example, their findings highlighted bacterial mechanisms involved in the adaptations needed to achieve such persistence. Such findings "advance understanding of how an exclusively human pathogen alters its genome to adapt to survival in the hostile environment of the human respiratory tract," the study's authors say.