epigenetics

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epigenetics

[¦ep·ə·jə¦ned·iks]
(genetics)
The study of those processes by which genetic information ultimately results in distinctive physical and behavioral characteristics.
References in periodicals archive ?
If epimutations don't come out the same way, we will need to look at ways to mildly accelerate cell turnover, combined with autologous stem cell therapy, which uses one's own stem cells for cellular therapy.
There are two modes in which such a transmission of epimutations can occur (Skinner 2008):
In contrast to LS, in which a monoallelic mutation of one of the MMR genes is inherited in the germline, sporadic MSI is associated with acquired epimutation of both copies of MLH1.
Cancer is the most widely studied disease known to be associated with epimutations, where a part or parts of the epigenome don't properly function.
Methylation sequencing analysis refines the region of H19 epimutation in Wilms tumor.
Recently, spermatozoal RNA has been used as a noninvasive means to identify germline epimutations (5), but it was found to be unsuitable in individuals with azoospermia (complete absence of sperm).
We actually did the experiment, and found that overall there is very little change between each generation, but spontaneous epimutations do exist in populations and arise at a rate much higher than the DNA mutation rate, and at times they had a powerful influence over how certain genes were expressed.
Epimutations and epigenetic polymorphisms are emphasized as being an interface between the genes underlying the idiopathic mental disorders and the environment.
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.
Approximately 70% of PWS cases are associated with a de novo paternally derived deletion, ~25% with maternal uniparental disomy 15, and the rest with deletions or epimutations in the imprinting center or from chromosome 15q translocations (5-7).
Chapter 6 provides a good synopsis of human diseases caused by epimutations, such as Rett syndrome, ICF syndrome, and fragile X syndrome.