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.