DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype.

ABSTRACT: People with ataxia-telangiectasia (A-T) display phenotypic variability with regard to progression of immunodeficiency, sino-pulmonary disease, and neurologic decline. To determine the association between differential gene expression, epigenetic state, and phenotypic variation among people with A-T, we performed transcriptional and genome-wide DNA methylation profiling in patients with mild and classic A-T progression as well as healthy controls. RNA and genomic DNA were isolated from peripheral blood mononuclear cells for transcriptional and DNA methylation profiling with RNA-sequencing and modified reduced representation bisulfite sequencing, respectively. We identified 555 genes that were differentially expressed among the control, mild A-T, and classic A-T groups. Genome-wide DNA methyl

SUBMITTER: McGrath-Morrow SA 

PROVIDER: S-EPMC7198504 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature