In PLOS Genetics, researchers at the University of Denver consider the consequences of missense mutations found in a subset of individuals with fragile X syndrome (FXS), a neurodevelopmental condition caused by missing or altered versions of the "Fragile X mental retardation protein (FMRP). The team turned to a Drosophila fruit fly model of FXS, using a combination of reporter assays, site-directed mutagenesis, fluorescence in situ hybridization analyses, and other experiments to explore the effects of FXS-related missense mutations in conserved FMRP RNA-binding domains — work that pointed to altered neuronal granule formation and function in the presence of missense mutations in the FMRP K homology RNA-binding domains KH1 and KH2. "Our results show that two regions of the FMRP protein play a critical role in the control of FMRP granules," they report. "These findings suggest the disruption of these processes may be linked to FXS pathogenesis."
A Western University team looks at gene overlap in viral genomes for a study appearing in PLOS Pathogens. Using sequence data for more than 12,600 viral genomes, the researchers searched for overlapping open reading frames om relation to other viral characteristics and genome features, ultimately coming up with a computational approach to analyze and visualize networks of overlapping ORFs for viruses within a given family or group. "Although overlaps are more abundant in viruses with larger genomes, for instance, they are also significantly shorter," they write, noting that "[o]verlaps in which one of the genes is read in the opposite direction … tend to be longer, which may be an emergent property of the universal genetic code."
For a paper appearing in PLOS One, investigators at the Guangxi Botanical Garden of Medicinal Plants present a single-molecule real time sequencing-based analysis of the Tokay gecko (Gekko gecko) transcriptome. With this approach, the team tracked down nearly 882,300 circular consensus reads, close to 213,000 consensus transcript sequences, and almost 204,000 high-quality transcript isoforms in G. gecko, which is used in traditional Chinese medicine and has been listed as a protected species in China. Along with annotation for some 111,372 transcripts, the group flagged thousands of alternative splicing events, long non-coding RNAs, transcription factor sequences, or simple sequence repeats in the Tokay gecko transcriptome, "The results will provide a valuable and comprehensive genetic resource for further in-depth studies of gene function and biological regulatory mechanisms in G. gecko," the authors suggest.