Insights Into Genetic Mosaic Discovery in Blood Cells

A recent study conducted at the European Molecular Biology Laboratory (EMBL) and the Max Delbrck Center utilized Strand-seq, a single-cell sequencing technique, to explore the mosaic structural variant (mSV) landscape of normal blood stem cells. The findings revealed de novo mSVs in 1 of every 43 hematopoietic stem and progenitor cells (HSPCs), irrespective of age. Although these mSVs may not lead to apparent diseases, individuals over 60 showed higher numbers of cells with mSVs, hinting at an underlying mechanism linked to aging-related conditions. Published in Nature Genetics, the study titled Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells delves into the impact of mSVs on cellular function and aging. The researchers sequenced 1,133 single-cell genomes from 19 donors and emphasized the role of mSVs in the molecular changes associated with aging and disease susceptibility.