Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells.

ABSTRACT: The accuracy of replicating the genetic code is fundamental. DNA repair mechanisms protect the fidelity of the genome ensuring a low error rate between generations. This sustains the similarity of individuals whilst providing a repertoire of variants for evolution. The mutation rate in the human genome has recently been measured to be 50-70 de novo single nucleotide variants (SNVs) between generations. During development mutations accumulate in somatic cells so that an organism is a mosaic. However, variation within a tissue and between tissues has not been analysed. By reprogramming somatic cells into induced pluripotent stem cells (iPSCs), their genomes and the associated mutational history are captured. By sequencing the genomes of polyclonal and monoclonal somatic cells and derived iPS

SUBMITTER: Rouhani FJ 

PROVIDER: S-EPMC4824386 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature