The Insertion of an ATTTC Repeat in an Alu Element Hyperactivates a Primate-Specific Neurodevelopmental Enhancer in Spinocerebellar Ataxia Type 37
Joana R. Loureiro, Ana F. Castro, Ana Sofia Figueiredo, Ana Eufrásio, Ashutosh Dhingra, Mafalda Galhardo, Hugo Marcelino, Catarina Rodrigues, Paula Sampaio, Maria M. Azevedo, Mafalda Sousa, Sofia Dória, Patrizia Rizzu, Peter Heutink, José Bessa, Isabel Silveira
The paper shows that an ATTTC repeat insertion in an Alu element enhances a DAB1 enhancer, leading to neuronal dysfunction in SCA37.
bioRxiv · Jun 3, 2025 · PreprintGenetics