ABOUT THE PROJECT
Around 1-2% of the Lynch syndrome cases are caused by MLH1 constitutional epimutations, most of them arising de novo (without an underlying cis-genetic cause) and reversed in the following generation. Alterations in distal regulatory regions may affect the expression of genes that they regulate.
In this project we aim to characterize the chromatin landscape of the MLH1 promoter and the changes in the regulatory network linked to MLH1 epimutations. Moreover, we will combine chromatin studies with transcriptome profiling and whole genome sequencing to unveil genetic alterations that may alter the regulatory network.
National Institutes of Health (NIH)
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