Polymorphic mobile element insertions contribute to gene expression and alternative splicing in human tissues.

ABSTRACT:

Background

Mobile elements are a major source of structural variants in the human genome, and some mobile elements can regulate gene expression and transcript splicing. However, the impact of polymorphic mobile element insertions (pMEIs) on gene expression and splicing in diverse human tissues has not been thoroughly studied. The multi-tissue gene expression and whole genome sequencing data generated by the Genotype-Tissue Expression (GTEx) project provide a great opportunity to systematically evaluate the role of pMEIs in regulating gene expression in human tissues.

Results

Using the GTEx whole genome sequencing data, we identify 20,545 high-quality pMEIs from 639 individuals. Coupling pMEI genotypes with gene expression profiles, we identify pMEI-associated expression quan

SUBMITTER: Cao X 

PROVIDER: S-EPMC7385971 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature