An effect of large-scale deletions and duplications on transcript expression.

ABSTRACT: Since copy number variants (CNVs) have been recognized as an important source of genetic and transcriptomic variation, we aimed to characterize the impact of CNVs located within coding, intergenic, upstream, and downstream gene regions on the expression of transcripts. Regions in which deletions occurred most often were introns, while duplications in coding regions. The transcript expression was lower for deleted coding (P = 0.008) and intronic regions (P = 1.355 × 10^-10), but it was not changed in the case of upstream and downstream gene regions (P = 0.085). Moreover, the expression was decreased if duplication occurred in the coding region (P = 8.318 × 10^-5). Furthermore, a negative correlation (r =  - 0.27) between transcript length and its expression was observed.

SUBMITTER: Mielczarek M 

PROVIDER: S-EPMC9789009 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature