A Peking University-led team reporting in PLOS Genetics describes RNA editing patterns they detected by sequencing DNA and RNA from multiple rhesus macaque tissues. Using data from one rhesus macaque, the researchers narrowed in on some 31,250 examples of RNA editing. Most of those appeared to be adenine to guanine swaps, they note, apparently due to adenosine deamination. "[T]he macaque editome reported here highlights RNA editing as a widespread functional regulation in primate evolution," they conclude, "and provides an informative framework for further understanding RNA editing in human."
Researchers from the Beijing Institute of Heart, Lung, and Blood Vessel Diseases and elsewhere used targeted exome sequencing to find the genetic culprits behind familial hypercholesterolemia in a Chinese family with the disease — work they present in PLOS One. The group focused on 167 potential contributors to the condition, sequencing the coding portion of these genes in members of an affected family who had their lipid levels documented. The search led to inherited mutations in a gene called LDLR that appeared to diminish the function of the resulting low-density lipoprotein cholesterol receptor protein, contributing to familial hypercholesterolemia in at least one affected child.
A genetic profiling scheme based on a combination of mutagenesis and high-throughput sequencing appears to be a promising scheme for finding and quantifying contributors to drug sensitivity and fitness in the hepatitis C virus, according to a PLOS Pathogens study by a University of California, Los Angeles-led team. The researchers demonstrated the feasibility of this method — known as the quantitative high-resolution genetic, or qHRG, approach — for tallying up the effects of individual amino acid changes on HCV's susceptibility, resistance, or growth response in the presence of Daclatasvir or NS5A drugs. "We envision that this high-resolution profiling methodology will be useful for next-generation drug development to select drugs with higher fitness costs to resistance," they write, "and also for informing the rational use of drugs based on viral variant spectra from patients."