DNA Methylation in the Diagnosis of Monogenic Diseases.

ABSTRACT: DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been

SUBMITTER: Cerrato F 

PROVIDER: S-EPMC7231024 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature