microarray‐based dna methylation profiling  (DIAGENODE DIAGNOSTICS)

Journal: Progress in brain research

Article Title: Genetic and epigenetic pathways in Down syndrome: insights to the brain and immune system from humans and mouse models

doi: 10.1016/bs.pbr.2019.09.002

Figure Lengend Snippet: DS-DM in human DS and the Ts65Dn and Dp(16)1Yey mouse models, assessed by whole-genome bisulfite sequencing (WGBS) of DNA from brain tissue (cerebral cortex). Differentially methylated region (DMR) detection reveals similarities and differences between two DS mouse models [Ts65Dn and Dp(16)1Yey], and between each model and human DS. DMRs were defined using the DEFIANT algorithm (Condon et al. 2018). Gains of methylation, with very few losses, are seen in the PCDHA-PCDHG protocadherin gene clusters, both in human DS and in the two mouse models. However, the patterns differ. Euploid age-matched controls were sequenced for the human data, and wild-type littermates were the controls for the mouse data. The delta methyl tracks indicate all statistically significant DMRs comparing DS vs control and mutant vs WT mouse brains; all adequately covered CpGs (>20X) are indicated in the bottom tracks. The linear scale for differences in fractional methylation is from −0.4 to +0.4, with the greatest differential methylation in this chromosomal region being +0.4.

Article Snippet: In our initial work, microarray-based DNA methylation profiling (Illumina 27K) in peripheral blood leukocytes (PBL) from individuals with DS and age-matched controls revealed gains and losses of DNA methylation, strongly affecting ~100 genes, as a consistent epigenetic response to Ts21 in these cells ( Kerkel et al. 2010 ).

Techniques: Methylation Sequencing, Methylation, Mutagenesis