R. Stefan Isaac

The paper introduces mtDIVE, a random mtDNA mutagenesis platform, to study genotype-phenotype associations in metabolic contexts and lineages, revealing lineage-specific effects and mutation-specific impacts.

The paper identifies MTERF1 as a suppressor of mtDNA deletion pathologies by showing its loss enhances mitochondrial function through transcriptional relief.

The paper uses long-read single-molecule accessibility mapping to reveal that human mtDNA undergoes all-or-none global compaction, with most nucleoids in an inaccessible state.

The paper uses Fiber-seq to study RNA polymerase interactions with chromatin fibers, showing Pol II pausing affects nucleosomes and coordination between nearby transcriptional elements.

The paper identifies genes involved in mitochondrial and nuclear gene regulation for OXPHOS complex synthesis using genome-wide screens and characterizes their roles in mitochondrial RNA abundance and mitoribosome assembly.