Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice.

ABSTRACT: Many Mendelian developmental disorders caused by coding variants in epigenetic regulators have now been discovered. Epigenetic regulators are broadly expressed, and each of these disorders typically shows phenotypic manifestations from many different organ systems. An open question is whether the chromatin disruption-the root of the pathogenesis-is similar in the different disease-relevant cell types. This is possible in principle, because all these cell types are subject to effects from the same causative gene, which has the same kind of function (e.g., methylates histones) and is disrupted by the same germline variant. We focus on mouse models for Kabuki syndrome types 1 and 2 and find that the chromatin accessibility changes in neurons are mostly distinct from changes in B or T cells. T

SUBMITTER: Boukas L 

PROVIDER: S-EPMC11216309 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature