The non-coding genome in genetic brain disorders: new targets for therapy?

ABSTRACT: The non-coding genome, consisting of more than 98% of all genetic information in humans and once judged as 'Junk DNA', is increasingly moving into the spotlight in the field of human genetics. Non-coding regulatory elements (NCREs) are crucial to ensure correct spatio-temporal gene expression. Technological advancements have allowed to identify NCREs on a large scale, and mechanistic studies have helped to understand the biological mechanisms underlying their function. It is increasingly becoming clear that genetic alterations of NCREs can cause genetic disorders, including brain diseases. In this review, we concisely discuss mechanisms of gene regulation and how to investigate them, and give examples of non-coding alterations of NCREs that give rise to human brain disorders. The cross-tal

SUBMITTER: Medico-Salsench E 

PROVIDER: S-EPMC8564736 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature