The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations
within this imprinted gene.
Also, the epigenetics consolidated a formal theory of carcinogenesis  that could explain cancer predisposition in humans related to epimutations
(an epigenetic hereditary abnormality in gene expression) transmitted from mother to child .
AdG: Our current work is focused on epimutations
; we feel that the work of experts in the field of the genetics of aging (Jan Vijg's group at the Albert Einstein College of Medicine in particular) has already shown really conclusively that mutations accumulate far too slowly in most tissues (notably the brain) during adulthood to have any chance of contributing to age-related ill-health.
It serves to erase random changes in epigenetic marks (i.e., epimutations
) that have occurred in the germ cells (i.e., gametes) and to restore the ability of the fertilized egg cell (i.e., zygote) to develop into all the different cell types and tissues (Reik et al.
The application of these tools will provide strong evidences for the relationship between epimutations
Methylation sequencing analysis refines the region of H19 epimutation
in Wilms tumor.
Cancer is the most widely studied disease known to be associated with epimutations
, where a part or parts of the epigenome don't properly function.
In contrast to LS, in which a monoallelic mutation of one of the MMR genes is inherited in the germline, sporadic MSI is associated with acquired epimutation
of both copies of MLH1.
Allelespecific germ cell epimutation
in the spacer promoter of the 45S ribosomal RNA gene after Cr(III) exposure.
Plastics derived endocrine disruptors (BPA, DEHP and DBP) induce epigenetic transgenerational inheritance of obesity, reproductive disease and sperm epimutations
. PLoS One 8(1):e55387, PMID: 23359474, https://doi.org/10.1371/journal.pone.0055387.
Weidner et al., "Epimutations
mimic genomic mutations of DNMT3A in acute myeloid leukemia," Leukemia, vol.