Faculty, Staff and Student Publications
Publication Date
1-1-2022
Journal
Advances in Experimental Medicine and Biology
Abstract
Cytosine methylation at the C5-position-generating 5-methylcytosine (5mC)-is a DNA modification found in many eukaryotic organisms, including fungi, plants, invertebrates, and vertebrates, albeit its levels vary greatly in different organisms. In mammals, cytosine methylation occurs predominantly in the context of CpG dinucleotides, with the majority (60-80%) of CpG sites in their genomes being methylated. DNA methylation plays crucial roles in the regulation of chromatin structure and gene expression and is essential for mammalian development. Aberrant changes in DNA methylation and genetic alterations in enzymes and regulators involved in DNA methylation are associated with various human diseases, including cancer and developmental disorders. In mammals, DNA methylation is mediated by two families of DNA methyltransferases (Dnmts), namely Dnmt1 and Dnmt3 proteins. Over the last three decades, genetic manipulations of these enzymes, as well as their regulators, in mice have greatly contributed to our understanding of the biological functions of DNA methylation in mammals. In this chapter, we discuss genetic studies on mammalian Dnmts, focusing on their roles in embryogenesis, cellular differentiation, genomic imprinting, and human diseases.
Keywords
Humans, Mice, Animals, DNA Methylation, DNA (Cytosine-5-)-Methyltransferases, DNA (Cytosine-5-)-Methyltransferase 1, DNA Modification Methylases, 5-Methylcytosine, Mammals, DNA, DNA methylation, Dnmt1, Dnmt3a, Dnmt3b, Dnmt3c, Dnmt3L, Uhrf1, Genomic imprinting
DOI
10.1007/978-3-031-11454-0_5
PMID
36350508
PMCID
PMC9815518
PubMedCentral® Posted Date
1-5-2023
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes