A comprehensive platform is established for the evaluation of both current and future individuals afflicted with the UBA5-associated developmental and epileptic encephalopathy.
William Matlock, Samuel Lipworth ... REHAB Consortium
A geographically and temporally restricted genomic surveillance study concludes that Enterobacterales plasmid dissemination between human and non-human niches might be occurring at greater rates than previously estimated.
Live imaging and taste behavior analyses show that related members of the Gr28 gene subfamily are expressed in largely non-overlapping sets of neurons and mediate opposing taste behaviors.
Carolina A Martinez-Gutierrez, Josef C Uyeda, Frank O Aylward
Phylogenomics reveals the timeline over which marine bacteria and archaea colonized the oceans and shows the geological context of their diversification.
Modeling the evolution of PRDM9 in light of recent results implicating the importance of PRDM9 binding symmetry suggests the advantage of new PRMD9 alleles is in limiting the number of binding sites used effectively rather than increasing net binding.
Multidimensional study of signaling pathways and epigenomics investigates how TCR (T cell receptor) signaling and chromatin landscape interpaly and impact on Treg stability.
Chromatin profiling of Drosophila testes reveals activation of the transcriptional program of the germline, widespread changes in RNA polymerase progression, and the absence of chromosomal regulation across the X chromosome.
Bonus, the Drosophila TIF1 factor, functions as a repressor of tissue-specific genes in the germline, emphasizing an important function of SUMOylation in transcriptional regulation.
Ernesto Ciabatti, Ana González-Rueda ... Marco Tripodi
SiR does not revert to wild type when produced in high-TEVp cell lines, is non-toxic in vivo, maintains transsynaptic spreading capabilities and revertant mutations do not accumulate during in vivo experiments.
The integrated analysis of multi-omics and functional evidence both in vitro and in knock-in mouse models reveal novel gain-of-function pathogenic mechanisms of dominant CRX HD missense mutations.
