CNVs of noncoding cis-regulatory elements in human disease

Abstract

Genomic rearrangements and copy-number variations (CNVs) are structural aberrations of the human genome which contribute to phenotypic variation as well as human disease. By now it is well accepted that structural aberrations affecting coding regions can have pathogenic effects, however, noncoding variants have only recently come into focus as disease-associated variants. The phenotypes associated with alterations in noncoding regions with regulatory potential can be striking and at the same time confined to a certain tissue/organ. Future studies will elucidate the frequency of these changes which are expected to be higher among conditions that are due to disturbance of complex developmental processes. Integrating these data with the recently published data from the ENCODE project will broaden our view of genes and their regulation and contribute to our understanding of pathomechanism underlying human disease. In this article, we review the recent advances in the identification of genomic rearrangements and CNVs in noncoding regions of the genome and their consequences for human disease.