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Mutation of histone modifying enzymes or DNA modification enzymes would fall into this category.
It was shown that the mutation of histone monoubiquitination genes in Arabidopsis reduced ubiquitinated forms of histone H2B, and altered expression levels for several dormancy-related genes [ 66].
28 Hence, altered expression or mutation of histone methyltransferase genes in HCC disrupts multiple regulatory networks, including a large number of miRNAs involved in posttranscriptional control.
Our group and others have demonstrated a high-frequency heterozygous mutation of histone H3.3 in DIPG at residue K27 [ 10, 24].
We used the K-S statistical test as above on the remodeler cohorts of genes and expression profiles accompanying the mutation of histone residues.
It was found that mutation of histone residues that are subject to particular modifications cause phenotypic alterations due to perturbed gene expression.
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Morin, R.D. et al. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
Morin, R. D. et al. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
The mutation of histone-residue 775 in dSETDB1 (dSETDB1H775L), which is invariant among SET-domain proteins and part of the adenosine-methionine binding pocket [12], attenuated the HMT activity of dSETDB1 (Figure 1A,B).
Recent sequencing efforts have identified several novel frequent mutations of histone modifying and chromatin remodeling genes in ccRCC including PBRM1, SETD2, BAP1, and KDM5C.
Up-regulation, down-regulation or mutations of histone variants have been associated with cancer [ 41].
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