Inherent mosaicism and extensive mutation of human placentas.

ABSTRACT: Placentas can exhibit chromosomal aberrations that are absent from the fetus¹. The basis of this genetic segregation, which is known as confined placental mosaicism, remains unknown. Here we investigated the phylogeny of human placental cells as reconstructed from somatic mutations, using whole-genome sequencing of 86 bulk placental samples (with a median weight of 28 mg) and of 106 microdissections of placental tissue. We found that every bulk placental sample represents a clonal expansion that is genetically distinct, and exhibits a genomic landscape akin to that of childhood cancer in terms of mutation burden and mutational imprints. To our knowledge, unlike any other healthy human tissue studied so far, the placental genomes often contained changes in copy number. We reconst

SUBMITTER: Coorens THH 

PROVIDER: S-EPMC7611644 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature