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This is potentially very important for imprinting disorders, where standard diagnostic testing is fragmented, time-consuming and variably sensitive, and where clinically heterogeneous and overlapping features (for example pre- and post-natal growth dysregulation) can be associated with multiple epigenetic mutations, many of which are not included in current testing regimes.
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BWS patients display multiple genetic and epigenetic mutations that mainly disrupt the expression of a cluster of imprinted genes located at human chromosome 11p15 (Cooper et al., 2005; Weksberg et al., 2005).
Epigenetic molecular clocks are experimentally much more efficient than sequence somatic clocks because mutation frequencies in tumor cell lines are about one per million bases [ 26] whereas multiple epigenetic errors are readily found after sequencing only a few hundred bases.
A 2011 study published by researchers at the Salk Institute in La Jolla, California, demonstrated epigenetic mutations that lasted for at least 30 generations in plants.
Not surprisingly, multiple epigenetic modulators can regulate expression of Wnt pathway constituents44.
In the post-genome era, cancer has been found to relate to epigenetic mutations.
Yao, S. et al. Retrovirus silencing, variegation, extinction, and memory are controlled by a dynamic interplay of multiple epigenetic modifications.
The reversible nature of epigenetic modifications makes epigenetic mutations attractive targets for epigenetic therapy of cancer.
Compared to genetic mutations, epigenetic mutations provide much faster responses.
Malfunctioning of these enzymes results in aberrant epigenetic modifications (epigenetic mutations).
The ros1 mutation induces transcriptional silencing of a pRD29A-LUC transgene The transgene exhibits a ros1-independent paramutation-like phenotype The transgene exists as 13 copies in the genome Maintaining silencing of the transgene requires multiple epigenetic pathways.
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