Article
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.
Human molecular genetics - 4 Feb 2021
Rodden Layne N, Chutake Yogesh K, Gilliam Kaitlyn, Lam Christina, Soragni Elisabetta, Hauser Lauren, Gilliam Matthew, Wiley Graham, Anderson Michael P, Gottesfeld Joel M, Lynch David R, Bidichandani Sanjay I
Abstract excerpt
Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, which results in transcriptional deficiency via epigenetic silencing. Most patients are homozygous for alleles containing > 500 triplets, but a subset (~20%) have at least one expanded allele with < 500 triplets and a distinctly milder phenotype. We show that in FRDA DNA methylation spreads...
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