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Article

RNA-Dependent Epigenetic Silencing Directs Transcriptional Downregulation Caused by Intronic Repeat Expansions.

Cell - 23 Aug 2018

Eimer Hannes, Sureshkumar Sridevi, Singh Yadav Avilash, Kraupner-Taylor Calvin, Bandaranayake Champa, Seleznev Andrei, Thomason Tamblyn, Fletcher Stephen J, Gordon Stephanie Frances, Carroll Bernard J, Balasubramanian Sureshkumar

Abstract excerpt

Transcriptional downregulation caused by intronic triplet repeat expansions underlies diseases such as Friedreich's ataxia. This downregulation of gene expression is coupled with epigenetic changes, but the underlying mechanisms are unknown. Here, we show that an intronic GAA/TTC triplet expansion within the IIL1 gene of Arabidopsis thaliana results in accumulation of 24-nt short interfering RNAs (siRNAs) and...

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PMID: 30057112
DOI: 10.1016/j.cell.2018.06.044

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GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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