Publication: Coevolution of mitochondrial and somatic nuclear DNA mutations.

A satisfying conclusion to a side-story that became a major project of Livius’ postdoc with Cathy Wu.

Tracking rare single donor and recipient immune and leukemia cells after allogeneic hematopoietic cell transplantation using mitochondrial DNA mutations

Livius Penter, Nicoletta Cieri, Katie Maurer, Marwan Kwok, Haoxiang Lyu, ..., Gad Getz, Jacqueline S. Garcia, Robert J. Soiffer, Kenneth J. Livak, Catherine J. Wu

Blood Cancer Discovery   ·   05 Sep 2024   ·   doi:10.1158/2643-3230.BCD-23-0138

Single-cell tracking of clonal evolution and microchimerism using mitochondrial DNA mutations

single cell genomics stem cell transplantation clonal evolution

We show co-evolution of mitochondrial and somatic nuclear DNA mutations using various approaches including reanalysis of bulk RNA and WES-seq data, single cell DNA sequencing and ASAP-seq. Further, we use maternal mitochondrial DNA variants to track rare donor or recipient-derived single cells following allogeneic stem cell transplantation to map out microchimeric states, such as residual leukemia at incipient relapse or remaining donor-derived hematopoiesis at time of frank hematologic recurrence.