Melissa Franco

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 reanalyzes mtDNA mutation data to determine if somatic mutations are under purifying selection, finding that apparent selection signals are due to germline mutations and most somatic mutations are neutral.

The paper identifies differences in mtDNA mutation accumulation and selective pressures in pediatric leukemias using bulk and single-cell sequencing, linking these to functional heterogeneity among leukemic cells.

The paper shows that apparent reversion mutations in mtDNA are not real but result from sample cross-contamination and NUMTs.

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 identifies an AH>GH substitution signature in mtDNA linked to aging and TSSS, showing higher frequency in species with longer generation lengths.

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.

The paper challenges previous interpretations of biparental mtDNA inheritance, proposing a model where paternal mtDNA undergoes selective fixation due to initial low copy number and a selective advantage.