On the meaning of the word 'epimutation'

Trends in Genetics

Volumn 30, Issue 12, 2014, Pages 519-520

  Oey, H ^a   Whitelaw, E ^a  

^a LA TROBE UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AZACITIDINE; DNA;

CANCER GROWTH; CHROMATIN; CPG ISLAND; DNA METHYLATION; DNA SEQUENCE; EPIGENETICS; EPIMUTATION; GENE MUTATION; HUMAN; NONHUMAN; NOTE; PHENOTYPE; TRANSGENE; EPIGENESIS, GENETIC; GENETICS; HUMANS; METABOLISM; MUTATION; TERMINOLOGY AS TOPIC;

DNA; DNA METHYLATION; EPIGENESIS, GENETIC; HUMANS; MUTATION; TERMINOLOGY AS TOPIC;

EID: 84916229993     PISSN: 01689525     EISSN: 13624555     Source Type: Journal    
DOI: 10.1016/j.tig.2014.08.005     Document Type: Note

References (12)

1. Plass C., et al. Mutations in regulators of the epigenome and their connections to global chromatin patterns in cancer. Nat. Rev. Genet. 2013, 14:765-780.
2. Holliday R. The inheritance of epigenetic defects. Science 1986, 238:163-170.
3. Ink4a epimutation causes tumorigenesis and reduces survival in mice. J. Clin. Invest. 2014, 124:3708-3712.
4. Horsthemke B. Epimutations in human disease. Curr. Top. Microbiol. Immunol. 2006, 310:45-59.
5. Vogel and Motulsky's Human Genetics. Problems and Approaches 2010, Springer. M.R. Speicher (Ed.).
6. Hitchins M.P., Ward R.L. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J. Med. Genet. 2009, 46:793-802.
7. Hitchins M.P., et al. Inheritance of a cancer-associated MLH1 germ-line epimutation. N. Engl. J. Med. 2007, 356:697-705.
8. Ward R.L., et al. Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Genet. Med. 2012, 15:25-35.
9. Buiting K., et al. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am. J. Hum. Genet. 2003, 72:571-577.
10. Rakyan V.K., et al. Metastable epialleles in mammals. Trends Genet. 2002, 18:348-351.
11. Mummaneni P., Shord S.S. Epigenetics and oncology. Pharmacotherapy 2014, 34:495-505.
12. Serra R.W., et al. A KRAS-directed transcriptional silencing pathway that mediates the CpG island methylator phenotype. Elife 2014, 3:e02313.