Skip to main content
Premium Trial:

Request an Annual Quote

This Week in PLOS: Mar 20, 2017

In PLOS Genetics, researchers from the UK and Denmark describe an apparent role for the lectin complement pathway gene COLEC10 in craniofacial development. The team used targeted and/or exome sequencing to search for suspicious mutations in 45 families affected by Carnevale, Mingarelli, Michels, and Malpuech syndromes — a set of rare, autosomal recessive, developmental conditions that are collectively called 3MC syndrome. Along with new mutations in known 3MC syndrome genes, the analysis led to COLEC10 mutations that were subsequently linked to craniofacial development in cell line and mouse embryo experiments.

For a paper appearing in PLOS One, a team from Brazil outlines efforts to identify viruses in nasopharyngeal wash samples from children who had their tonsils and adenoids removed. By reaching out to the families of 120 children who had had adenotonsillectomy procedures in the past three years to five years, the researchers obtained follow-up nasopharyngeal wash samples for 83 children and used real-time PCR to search for respiratory viruses. They also tested samples from 20 control children with a history of cochlear implant surgery. Respiratory viruses turned up at in a similar proportion before and after surgery in the adenotonsillectomy group, the authors note, and they picked up rhinovirus in nearly half of the post-operative samples.

Finally, Swiss researchers reporting in PLOS One describe peptide and transcript profiles in venom from four spider species: Heteropoda davidbowie, Poecilotheria formosa, Viridasius fasciatus, and Latrodectus mactans. The researchers used a combination of RNA sequencing and liquid chromatography-mass spectrometry to characterize transcripts in spider venom glands and peptidome patterns in venom samples, unearthing some 284 potential toxins marked by cysteine-rich peptide patterns. The authors argue that the strategy "generated valuable data on expressed and putative toxins for in depth and sensitive comparison purposes and seems well adapted to a much larger screen of biodiverse spider venoms across all families."

The Scan

Cancer Survival Linked to Mutational Burden in Pan-Cancer Analysis

A pan-cancer paper appearing in JCO Precision Oncology suggests tumor mutation patterns provide clues for predicting cancer survival that are independent of other prognostic factors.

Australian Survey Points to Public Support for Genetic Risk Disclosure in Relatives of At-Risk Individuals

A survey in the European Journal of Human Genetics suggests most adult Australians are in favor of finding out if a relative tests positive for a medically actionable genetic variant.

Study Links Evolution of Stony Coral Skeleton to Bicarbonate Transporter Gene

A PNAS paper focuses on a skeleton-related bicarbonate transporter gene introduced to stony coral ancestors by tandem duplication.

Hormone-Based Gene Therapy to Sterilize Domestic Cat

A new paper in Nature Communication suggests that gene therapy could be a safer alternative to spaying domestic cats.