Epigenomic abnormalities and human diseases: genetic dysfunction without genetic mutation
Author:
Affiliation:
1. 国立研究開発法人国立成育医療研究センター研究所周産期病態研究部
Publisher
Japanese Society on Thrombosis and Hemostasis
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/jjsth/32/5/32_2021_JJTH_32_5_619-624/_pdf
Reference11 articles.
1. 1) Hata K, Okano M, Lei H, et al.: Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice. Development 129: 1983–1993, 2002.
2. 2) Yokomine T, Hata K, Tsudzuki M, et al.: Evolution of the vertebrate DNMT3 gene family: A possible link between existence of DNMT3L and genomic imprinting. Cytogenet Genome Res 113: 75–80, 2006.
3. 3) Ho JW, Jung YL, Liu T, et al.: Comparative analysis of metazoan chromatin organization. Nature 512: 449–452, 2014.
4. 4) Gueant JL, Chery C, Oussalah A, et al.: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun 9: 554, 2018.
5. 5) E Evans DGR, van Veen EM, Byers HJ, et al.: A dominantly inherited 5' UTR variant causing methylation-associated silencing of BRCA1 as a cause of breast and ovarian cancer. Am J Hum Genet 103: 213–220, 2018.
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