An AluYb8 mobile element characterises the risk haplotype of the TMEM106B locus associated with neurodegeneration
Alex N Salazar, Niccoló Tesi, Yolande AL Pijnenburg, Sven J van der Lee, Lydian Knoop, Sanduni Wijesekera, Jana Krizova, Mikko Hiltunen, Markus Damme, Leonard Petrucelli, Marcel JT Reinders, Marc Hulsman, Henne Holstege · 2025
Read An AluYb8 mobile element characterises the risk haplotype of the TMEM106B locus associated with neurodegeneration by Alex N Salazar, Niccoló Tesi, Yolande AL Pijnenburg, Sven J van der Lee, Lydian Knoop, Sanduni Wijesekera, Jana Krizova, Mikko Hiltunen, Markus Damme, Leonard Petrucelli, Marcel JT Reinders, Marc Hulsman, Henne Holstege (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11710011.txt.
Description
Alex Salazar and co-authors hunt the causal variant behind a brain disease risk gene in a 2025 study. The gene helps cells clear waste through their recycling system. A DNA stretch inside it links to higher risk of several brain diseases. Which exact change drives that risk stayed unknown for years.
Long read sequencing of hundreds of genomes revealed a jumping gene inserted in the risk stretch. The insert travels with the known risk marker in every case checked. The risk copy also gathered chemical marks that may mute the insert. Like inserts appear in the same gene of other species, hinting at an old benefit.
Catalog record
| CREATOR | Alex N Salazar, Niccoló Tesi, Yolande AL Pijnenburg, Sven J van der Lee, Lydian Knoop, Sanduni Wijesekera, Jana Krizova, Mikko Hiltunen, Markus Damme, Leonard Petrucelli, Marcel JT Reinders, Marc Hulsman, Henne Holstege |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 3 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |