Heterozygotic Brca1 mutation initiates mouse genome instability at embryonic stage.

ABSTRACT: BRCA1 mutation is the genetic predisposition in causing genome instability towards cancer. BRCA1 mutation is predominantly germline inherited at the fertilization. However, when the inherited mutation initiates genome instability in the mutation carriers remains largely elusive. We used a heterozygotic Brca1-knockout mouse as a model to investigate the issue. Through whole-genome sequencing and bioinformatics analysis, we monitored genome status across the developmental stages from embryo to adulthood in the mouse model. We observed that genome instability as reflected by structural variation, indel and copy number variation already appeared at 10.5-day embryo and progressively towards adulthood. We also observed that the genome instability was not linearly accumulated but dynamically chan

SUBMITTER: Wu X 

PROVIDER: S-EPMC9307611 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature