Article

The Insertion of an ATTTC Repeat in an Alu Element Hyperactivates a Primate-Specific Neurodevelopmental Enhancer in Spinocerebellar Ataxia Type 37

2025-06-04

Abstract excerpt

<h4>Summary</h4> Alu are evolutionarily very old primate-specific interspersed repeat elements that constitute ∼11% of the human genome. They are a source of short tandem repeats (STRs), which often expand in size and originate inherited neuromuscular and neurodegenerative disorders. How expanded STR insertion mutations within Alu STRs culminate in disease remains unknown. Here we report an Alu STR located in an...

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Literature Corpus work: 3c7bb17f-e548-5709-ba21-32a720788af0
DOI: 10.1101/2025.06.03.657633

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