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Human Imprintome DNA Methylation Array

22 July 2024: The monoallelic parent-of-origin dependent expression of imprinted genes is regulated by differentially methylated imprint control regions (ICRs) - the human imprintome. The epigenetic dysregulation of the imprintome by environmental exposures during early development results in the fetal origins of behavioral disorders and common chronic diseases. Whole genome bisulfite sequencing (WGBS) is a unique method to profile these ICRs (Cevik, et. al. 2024); however, it is computationally intensive since it requires high coverage, making it expense for use in large epidemiological studies.

To address this deficiency, we developed a custom methylation array containing 22,819 probes (Carreras-Gallo et al. 2024). Among them, 10,438 are CG probes targeting unique CpG sites, with 9,757 probes successfully mapping to 1,088 out of the 1,488 candidate ICRs recently described (Jima et al. 2022). Our custom array will be useful for replicable and accurate DNA methylation assessment, mechanistic insight, and targeted investigation of ICRs in the human imprintome. This tool should accelerate the discovery of ICRs associated with a wide range of diseases and exposures, and advance our understanding of genomic imprinting and its relevance in development and disease formation throughout the life course.