Common DNA sequence variation influences 3-dimensional conformation of the human genome.

ABSTRACT:

Background

The 3-dimensional (3D) conformation of chromatin inside the nucleus is integral to a variety of nuclear processes including transcriptional regulation, DNA replication, and DNA damage repair. Aberrations in 3D chromatin conformation have been implicated in developmental abnormalities and cancer. Despite the importance of 3D chromatin conformation to cellular function and human health, little is known about how 3D chromatin conformation varies in the human population, or whether DNA sequence variation between individuals influences 3D chromatin conformation.

Results

To address these questions, we perform Hi-C on lymphoblastoid cell lines from 20 individuals. We identify thousands of regions across the genome where 3D chromatin conformation varies between individual

SUBMITTER: Gorkin DU 

PROVIDER: S-EPMC6883528 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature