TY - CHAP
T1 - Genetic Studies on Mammalian DNA Methyltransferases
AU - Dan, Jiameng
AU - Chen, Taiping
N1 - Publisher Copyright:
© 2022, The Author(s), under exclusive license to Springer Nature Switzerland AG.
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
KW - DNA methylation
KW - Dnmt1
KW - Dnmt3a
KW - Dnmt3b
KW - Dnmt3c
KW - Dnmt3L
KW - Genomic imprinting
KW - Uhrf1
UR - http://www.scopus.com/inward/record.url?scp=85141457318&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85141457318&partnerID=8YFLogxK
U2 - 10.1007/978-3-031-11454-0_5
DO - 10.1007/978-3-031-11454-0_5
M3 - Chapter
C2 - 36350508
AN - SCOPUS:85141457318
T3 - Advances in Experimental Medicine and Biology
SP - 111
EP - 136
BT - Advances in Experimental Medicine and Biology
PB - Springer
ER -