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DNA Methylation Reprogramming during Mammalian Development
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Effect of Disease-Associated Germline Mutations on Structure Function Relationship of DNA Methyltransferases

Department of Biochemistry, Purdue University, West Lafayette, IN 47907, USA
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Author to whom correspondence should be addressed.
Genes 2019, 10(5), 369; https://doi.org/10.3390/genes10050369
Received: 27 March 2019 / Revised: 7 May 2019 / Accepted: 8 May 2019 / Published: 14 May 2019
(This article belongs to the Special Issue Role of DNA Methyltransferases in the Epigenome)
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. Biochemical and biological characterization of DNMT variants can reveal the molecular mechanism of these enzymes and give insights on their specific functions. In this review, we introduce roles and regulation of DNA methylation and DNMTs. We discuss DNMT mutations that are associated with rare diseases, the characterized effects of these mutations on enzyme activity and provide insights on their potential effects based on the known crystal structure of these proteins. View Full-Text
Keywords: ADCA-DN; HSAN1E; TBRS; dwarfism; DNMT3A; DNMT1; rare diseases; PCC/PGL; DNA methylation ADCA-DN; HSAN1E; TBRS; dwarfism; DNMT3A; DNMT1; rare diseases; PCC/PGL; DNA methylation
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Norvil, A.B.; Saha, D.; Saleem Dar, M.; Gowher, H. Effect of Disease-Associated Germline Mutations on Structure Function Relationship of DNA Methyltransferases. Genes 2019, 10, 369.

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