Article
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.
Nature genetics - 1 Jul 2023
Lareau Caleb A, Dubois Sonia M, Buquicchio Frank A, Hsieh Yu-Hsin, Garg Kopal, Kautz Pauline, Nitsch Lena, Praktiknjo Samantha D, Maschmeyer Patrick, Verboon Jeffrey M, Gutierrez Jacob C, Yin Yajie, Fiskin Evgenij, Luo Wendy, Mimitou Eleni P, Muus Christoph, Malhotra Rhea, Parikh Sumit, Fleming Mark D, Oevermann Lena, Schulte Johannes, Eckert Cornelia, Kundaje Anshul, Smibert Peter, Vardhana Santosha A, Satpathy Ansuman T, Regev Aviv, Sankaran Vijay G, Agarwal Suneet, Ludwig Leif S
Abstract excerpt
Pathogenic mutations in mitochondrial DNA (mtDNA) compromise cellular metabolism, contributing to cellular heterogeneity and disease. Diverse mutations are associated with diverse clinical phenotypes, suggesting distinct organ- and cell-type-specific metabolic vulnerabilities. Here we establish a multi-omics approach to quantify deletions in mtDNA alongside cell state features in single cells derived from six...
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