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This Week in PNAS: May 1, 2018

The University of Washington's Mary-Claire King and colleagues from the US, Israel, and Turkey describe rare homozygous mutations affecting BRCA1. Though complete loss of the tumor suppressor gene is embryonic lethal, the team notes that some BRCA1 activity may remain in individuals with compound heterozygous alterations. For their new analysis, the researchers followed four children with severe chromosomal fragility and multiple congenital abnormalities. With gene panel sequencing or exome sequencing, they searched for suspicious mutations in these children, from two unrelated families. Across these cases, the search unearthed homozygous nonsense mutations in exon 11 of BRCA1. The authors' follow-up analyses suggest the homozygous mutation "was viable thanks to the presence of a naturally occurring alternative splice donor in BRCA1 exon 11 that lies 5' of the mutations."

A team from China, Australia, and Israel explores genomic features associated with drought tolerance in the wild barley plant, Hordeum spontaneum. The researchers focused on more than a dozen wild barley genotypes from Terra Rossa and basalt soils at Israel's "Tabigha Evolution Slope" — a site near the Lake of Galilee that spans distinct environmental exposures. By re-sequencing seven Terra Rossa and six basalt soil genotypes, they identified almost 69.2 million wild barley SNPs and up to 27 million small insertions and deletions per genotype relative to the barley reference genome. With these data, the authors searched for genetic divergence in the drought tolerant genotypes, identifying distinct drought adaptations in plants from different soil sites.

Researchers from China and France look at the repertoire of cuticular protein-coding genes in the cuticle of a rice insect pest, the brown planthopper (Nilaparvata lugens). Using a combination of genomic data, RNA interference assays, transcriptomic analyses, and ultra-performance liquid chromatography-tandem mass spectrometry, the team narrowed in on 140 candidate genes from eight cuticular protein families. In the subsequent analyses, the investigators verified at least 106 of the proteins and saw signs that 32 of the cuticular proteins are essential for normal brown planthopper development. "Transcriptomic data revealed that the [cuticular protein] genes were expressed in a tissue-specific manner," the authors note, "and there were four clusters of developmental expression patterns."