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This Week in PLoS: May 7, 2012

In PLoS Genetics, an international team led by investigators at Georg-August-University Göttingen in Germany this week reports its use of whole-genome sequence data to predict quantitative trait phenotypes, like startle-induced locomotor behavior, in Drosophila melanogaster. Using the Drosophila Genetic Reference Panel population of inbred lines, the team built a genomic relationship matrix from the SNP data it generated, which the team then used in a genomic best linear unbiased prediction model, or GBLUP. "We find that genomic prediction can be efficiently implemented using sequence data via GBLUP, there is little gain in predictive ability if the number of SNPs is increased above 150,000, and [that] neither implicit nor explicit marker selection substantially improves the predictive ability," the authors write.

Researchers at Germany's Max-Delbrück Center for Molecular Medicine and their colleagues show in PLoS Biology that recessive pathogenic mutations in the USH2A gene may influence touch acuity in "a proportion of a cohort of congenitally deaf young adults display significantly impaired measures of touch sensitivity compared to controls." Then, in a cohort of patients with Usher syndrome, a condition of deaf-blindness that is genetically well-characterized, the team found that "recessive pathogenic mutations in the USH2A gene influence touch acuity" whereas "control Usher syndrome cohorts lacking demonstrable pathogenic USH2A mutations showed no impairment in touch acuity."

In a related synopsis article, science writer Richard Robinson says that while "exactly how USH2A mutation affects either sense is unknown," usherin, the protein encoded by the gene, may provide a clue. "Usherin, is found at the base of the stereocilia, where it may serve to link other cellular proteins to the extracellular matrix, a function perhaps well-suited to transferring extracellular mechanical distortion into the cell, where it could help influence membrane depolarization," Robinson says, adding that "whatever the actual mechanism, the finding that it plays a role in touch will likely trigger important research into its precise function."

The Scan

Renewed Gain-of-Function Worries

The New York Times writes that the pandemic is renewing concerns about gain-of-function research.

Who's Getting the Patents?

A trio of researchers has analyzed gender trends in biomedical patents issued between 1976 and 2010 in the US, New Scientist reports.

Other Uses

CBS Sunday Morning looks at how mRNA vaccine technology could be applied beyond SARS-CoV-2.

PLOS Papers Present Analysis of Cervicovaginal Microbiome, Glycosylation in Model Archaea, More

In PLOS this week: functional potential of the cervicovaginal microbiome, glycosylation patterns in model archaea, and more.