Genetic variation at mouse and human ribosomal DNA influences associated epigenetic states.

ABSTRACT:

Background

Ribosomal DNA (rDNA) displays substantial inter-individual genetic variation in human and mouse. A systematic analysis of how this variation impacts epigenetic states and expression of the rDNA has thus far not been performed.

Results

Using a combination of long- and short-read sequencing, we establish that 45S rDNA units in the C57BL/6J mouse strain exist as distinct genetic haplotypes that influence the epigenetic state and transcriptional output of any given unit. DNA methylation dynamics at these haplotypes are dichotomous and life-stage specific: at one haplotype, the DNA methylation state is sensitive to the in utero environment, but refractory to post-weaning influences, whereas other haplotypes entropically gain DNA methylation during aging only. On the ot

SUBMITTER: Rodriguez-Algarra F 

PROVIDER: S-EPMC8842540 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature