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This Week in Cell: Apr 11, 2012

In a paper published online in advance in Cell, a team led by investigators at the Victor Chang Cardiac Research Institute in Sydney shows that haploinsufficiency of Notch signaling pathway genes can cause congenital scoliosis in humans. In a mouse model, the team also shows that "the combination of this genetic risk factor with an environmental condition (short-term gestational hypoxia) significantly increases the penetrance and severity of vertebral defects" associated with congenital scoliosis. "Our results potentially provide a mechanism for the genesis of a host of common sporadic congenital abnormalities through gene-environment interaction," the authors write.

Over in Cell Reports, Columbia University's Marios Agelopoulos, Daniel McKay, and Richard Mann "present a strategy to examine the chromatin conformation of individual loci in specific cell types during Drosophila embryogenesis." Using that approach, they found a pattern of binding by GAGA factor and the variant histone H2Av, which suggests that they "play a role in the regulation of Dll chromatin conformation in expressing and non-expressing cell types, respectively."

Elsewhere in the journal, researchers at Japan's Kyushu University and their colleagues report on their work with IRF8-deficient mice, which showed them that "IRF8 may activate a program of gene expression that transforms microglia into a reactive phenotype." Overall, the authors suggest their mouse model findings provide a previously unseen mechanism for microglial activation.

The Scan

NFTs for Genome Sharing

Nature News writes that non-fungible tokens could be a way for people to profit from sharing genomic data.

Wastewater Warning System

Time magazine writes that cities and college campuses are monitoring sewage for SARS-CoV-2, an approach officials hope lasts beyond COVID-19.

Networks to Boost Surveillance

Scientific American writes that new organizations and networks aim to improve the ability of developing countries to conduct SARS-CoV-2 genomic surveillance.

Genome Biology Papers on Gastric Cancer Epimutations, BUTTERFLY, GUNC Tool

In Genome Biology this week: recurrent epigenetic mutations in gastric cancer, correction tool for unique molecular identifier-based assays, and more.