Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis.

ABSTRACT: Children show a higher incidence of leukemia compared to young adolescents, yet their cells have less age-related (oncogenic) somatic mutations. Newborns with Down syndrome have an even higher risk of developing leukemia, which is thought to be driven by mutations that accumulate during fetal development. To characterize mutation accumulation in individual stem and progenitor cells of Down syndrome and karyotypically normal fetuses, we clonally expanded single cells and performed whole-genome sequencing. We found a higher mutation rate in haematopoietic stem and progenitor cells during fetal development compared to the post-infant rate. In fetal trisomy 21 cells the number of somatic mutations is even further increased, which was already apparent during the first cell divisions of embryoge

SUBMITTER: Hasaart KAL 

PROVIDER: S-EPMC7395765 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature