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This Week in PNAS: Jul 2, 2014

Editor's Note: Some of the articles described below are not yet available at the PNAS site, but they are scheduled to be posted some time this week.

In a study slated to appear online in the Proceedings of the National Academy of Sciences this week, researchers from the US and Pakistan used homozygosity mapping and exome sequencing to find a role for the fibroblast growth factor 5 gene FGF5 in familial trichomegaly, a condition characterized by pronounced eyelash growth. After narrowing in on a suspicious chromosome 4 region by genotyping 14 individuals from an affected family from Pakistan, the researchers performed exome sequencing on two members of the family. They also sequenced the exomes of three individuals from another trichomegaly-prone family and five unaffected individuals from the same population. The exome sequencing search led to mutations in FGF5 that appear causative for familial trichomegaly, while targeted sequencing on members of several more families turned up another familial trichomegaly-related mutation in FGF5.

Researchers from the US, Curacao, and the Netherlands describe microbial communities that appear in conjunction with different macroorganisms on reefs in the central Pacific. Using metagenomic sequencing, the team tested nearly two dozen coral reef samples collected near the Line Islands. Results of the experiments indicate that reef microbe community members vary depending on whether reefs were primarily covered by coral or by algae. On the other hand, the biogeochemical features of the sampling site — including its distance from upwelling zones — seemed to have a more pronounced influence over the microbial genes found in these microbiomes.

A team from the US and China introduce an approach for keeping tabs on a group of transposons known as Helitrons. The HelitronScanner method is designed to identify these rolling circle transposons, which can turn up in eukaryotic cells and grab gene sequences, the study authors say. In their proof-of-principle study in PNAS, the researchers began by applying HelitronScanner to several plant genomes, identifying almost 65,700 Helitron transposons. From there, they focused on sequences from the maize plant, comparing the collection of Helitrons predicted by HelitronScanner with those found using alternative approaches, known as HelitronFinder and HelSearch.