epigenetics

(redirected from Epimutation)
Also found in: Medical, Encyclopedia.

ep·i·ge·net·ics

 (ĕp′ĭ-jə-nĕt′ĭks)
n. (used with a sing. verb)
The study of heritable changes in gene expression that are caused by factors such as DNA methylation rather than by a change in the sequence of base pairs in DNA itself.

epigenetics

(ˌɛpɪdʒɪˈnɛtɪks)
n (functioning as sing)
(Genetics) the study of heritable changes that occur without a change in the DNA sequence
Mentioned in ?
References in periodicals archive ?
Atrazine induced epigenetic transgenerational inheritance of disease, lean phenotype and sperm epimutation pathology biomarkers.
(11) SDH deficient GISTs and paragangliomas can also occur in the syndromic, nonhereditary Carney triad of paraganglioma, pulmonary chondroma, and SDH-deficient GIST, which is caused by SDHC promoter-specific CpG island hypermethylation; however, to date, this epimutation has not been reported in SDH-deficient RCCs.
In brief, the preventative possibilities presented by the epimutation model of cancer concern the identification of mutant genes responsible for the error-prone epigenetic copying and their repair or selective elimination of cells bearing these mutations.
Walker et al., "Recurrent epimutation of SDHC in gastrointestinal stromal tumors," Science Translational Medicine, vol.
A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
Suthers et al., "Inheritance of a cancer-associated MLH1 germ-line epimutation," The New England Journal of Medicine, vol.
LE: SENS Foundation has been investigating the possibility that mutation and epimutation (changes in gene expression rather than alterations of the genes themselves) may be deleterious in ways other than cancer.
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.
This observation supports the idea of transgenerational epigenetic inheritance; it suggests however that only some diseases that have the underlying epimutation can be inherited.
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
(5) That is, the initial exposure to DDT may have caused an epimutation in a would-be parent and this aberrant pattern was later inherited.
A rare constitutional epimutation of MLH1 has also been reported, (47) potentially adding even further complexity to genetic testing for LS.