Detection of occurrent somatic hypermutation and associated gene expression profile in single B cells. Detection of occurrent somatic hypermutation and associated gene expression profile in single B cells

This study provided new insights into the molecular mechanisms of SHM. For the first time, SHM was detected at the single-cell level in 58% of FL samples but not in chronic lymphocytic leukemia (CLL) used as control. The occurrence of SHM at the single-cell level was correlated with higher expression of DNA repair pathways and activation-induced cytidine deaminase (AID), as well as the motifs associated with AID. FL is an essential in vivo model for studying SHM due to its high rate of ongoing SHM, and the findings of this study contribute to our understanding of the molecular mechanisms involved in human B-cells. Overall design: 10X Genomics of flowcytometry-purified Follicular Lymphoma cells, 5' chemistry, full transcriptome and BCR enrichment