Genomics & Functional Genomics
IGHMBP2 deletion suppresses translation and activates the integrated stress responseWe characterized the genetic consequences of deleting IGHMBP2—a disease-relevant perturbation—in human cells. IGHMBP2-dependent gene expression changes included up-regulation of ATF4, a key ISR factor.
- Correction: Porphyrin overdrive rewires cancer cell metabolism
Cancer cells exhibit a metabolic phenotype termed “porphyrin overdrive,” characterized by dysregulated heme metabolic pathways for intermediate accumulation. This rewiring is cancer-essential and cancer-specific. Targeting this vulnerability with a “bait-and-kill” strategy shows promise in eradicating malignant cells.
Systems genetics analysis of human body fat distribution genes identifies adipocyte processesUsing Bayesian network analysis, we modeled gene-gene interactions and predicted novel regulators of adipose tissue fat storage. We show that five novel genes affect adipogenesis or mitochondrial function in human fat cells.
Comprehensive meta-analysis reveals distinct gene expression signatures of MASLD progressionMeta-analysis of hepatic gene expression reveals novel drivers of progression in metabolic dysfunction-associated liver disease (MASLD).
The Rtf1/Prf1-dependent histone modification axis counteracts multi-drug resistance in fission yeastMutations in a conserved histone modification axis confer a unique drug-tolerant phenotype in fission yeast, and suggest a mode of gene regulation shared with the Rpb1 C-terminal domain.
Genetic structure and diversity of the rfb locus of pathogenic species of the genus LeptospiraThis study provides a broad investigation of the gene composition of the rfb locus, the main genetic factor associated with serology in Leptospira, and opens the way for molecular diagnostics in leptospirosis.
A genetic screen to uncover mechanisms underlying lipid transfer protein function at membrane contact sitesA genetic screen in Drosophila photoreceptors uncovers multiple regulators of lipid transfer function and endoplasmic reticulum–plasma membrane contact sites.
Mapping parental DMRs predictive of local and distal methylome remodeling in epigenetic F1 hybridsWe show that parental DNA methylation divergence in pericentromeric regions predicts non-additivity in the methylomes, transcriptomes, and phenotypes of F1 hybrids, independently of DNA sequence divergence.
Integrated analysis of RNA-seq datasets reveals novel targets and regulators of COVID-19 severityThis work observed differential expression of genes related to the endomembrane system, specific granules, T cell receptor complex, and SPI1 and TP53 target genes exclusively in severe COVID-19 patients.
Single variant, yet “double trouble”: TSC and KBG syndrome because of a large de novo inversionShort-read genome sequencing identified an 87-Mb inversion in a patient with atypical Tuberous sclerosis. The inversion disrupts TSC2 and ANKRD11, resulting in dual diagnosis of TSC/KBG syndromes.