Jonathan L. Tilly

The paper identifies age-related mitochondrial subpopulation changes in oocytes and cumulus cells and shows NMN has subpopulation-specific effects.

The paper analyzes mtDNA mutation dynamics in human oocytes and finds evidence of positive selection for noncoding and coding mutations, suggesting a shift from positive to purifying selection upon inheritance.

This study reanalyzes single-cell RNA sequencing data to show that mitochondrial gene expression changes precede oxidative phosphorylation activation and lineage specification in human pre-implantation embryos.

The paper identifies that Tead4 preferentially localizes to large, high-membrane-potential mitochondria in 8-cell embryos, establishing a mitochondrial basis for its bioavailability during early mammalian cell fate decisions.

This paper reveals a wave-shaped germline selection profile of mtDNA mutations by correcting for regression to the mean bias, showing how mutations are filtered in the germline.

The paper reanalyzes mtDNA mutation data from human primordial germ cells, identifies NUMT contamination, and suggests that selection in PGCs may be positive rather than negative.

The paper proposes the existence of 'stem' and 'worker' mtDNA subpopulations based on mutational analysis and HiFi read data, suggesting differential roles in replication and oxidative phosphorylation.

The paper finds that aneuploidy in human embryos is linked to higher mitochondrial DNA content and more ultra-rare mtDNA variants, independent of maternal age.

The paper re-analyzes mtDNA mutation data from primordial germ cells and finds that many variants are artifacts from nuclear mitochondrial DNA fragments, invalidating previous conclusions about purifying selection.

This paper shows that the m.3243A>G mtDNA mutation levels in blood change in a bi-phasic way with age, requiring an age correction dependent on mutation level, and finds evidence for positive germline selection of this mutation.