Together, our results strongly suggest that H3K9me3 and H4K20me3 are not associated with developmental repression of imprinted genes in mouse ESCs, but rather with imprinting control.
Figure 3 showed the procedure of NIL with imprinting pressure and temperature.
In order to learn more about the mechanism behind these effects, experiments were undertaken on protein kinase C [PKC] isoforms in the intermedial part of the hyperstriatum ventrale, the region most closely associated with imprinting.
We then explored underlying mechanisms involving the targeting of protein kinase C (PKC) isoforms in the intermedial part of the hyperstriatum ventrale, the region most closely associated with imprinting.
Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting.
Although consistent with imprinting, we could not formally rule out random choice autosomal mono-allelic expression.
In summary, we show three different reprogramming events occurring at the IGF2-H19 locus and associated with imprinting loss in BWS, SRS and Wilms Tumour.
Although the H19 region has been studied mainly in association with imprinting, it appears that this region contains a precisely-structured cluster of genes which evolutionarily precedes imprinting.
The latter is supported by experimental data showing that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting.
Moreover, we decided to study further those candidate genes from the microarray data that had been associated with neuronal function in published studies or that could be connected with Mecp2 function for their association with imprinting or X-chromosome inactivation.
