Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression

Variable number tandem repeats (VNTRs) are composed of large tandemly repeated motifs, many of which are highly polymorphic in copy number. However, because of their large size and repetitive nature, they remain poorly studied. To investigate the regulatory potential of VNTRs, we used read-depth data from Illumina whole-genome sequencing to perform association analysis between copy number of ∼70,000 VNTRs (motif size ≥ 10 bp) with both gene expression (404 samples in 48 tissues) and DNA methylation (235 samples in peripheral blood), identifying thousands of VNTRs that are associated with local gene expression (eVNTRs) and DNA methylation levels (mVNTRs).

Source: The American Journal of Human Genetics - March 31, 2021 Category: Genetics & Stem Cells Authors: Paras Garg, Alejandro Martin-Trujillo, Oscar L. Rodriguez, Scott J. Gies, Elina Hadelia, Bharati Jadhav, Miten Jain, Benedict Paten, Andrew J. Sharp Tags: Article Source Type: research