Effect of Disease-Associated Germline Mutations on Structure Function Relationship of DNA Methyltransferases.

ABSTRACT: Despite a large body of evidence supporting the role of aberrant DNA methylation in etiology of several human diseases, the fundamental mechanisms that regulate the activity of mammalian DNA methyltransferases (DNMTs) are not fully understood. Recent advances in whole genome association studies have helped identify mutations and genetic alterations of DNMTs in various diseases that have a potential to affect the biological function and activity of these enzymes. Several of these mutations are germline-transmitted and associated with a number of hereditary disorders, which are potentially caused by aberrant DNA methylation patterns in the regulatory compartments of the genome. These hereditary disorders usually cause neurological dysfunction, growth defects, and inherited cancers. Biochemic

SUBMITTER: Norvil AB 

PROVIDER: S-EPMC6562416 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature