Genetic variations in G-quadruplex forming sequences affect the transcription of human disease-related genes
Agustín Lorenzatti, Ernesto J Piga, Mauro Gismondi, Andrés Binolfi, Ezequiel Margarit, Nora B Calcaterra, Pablo Armas · 2023
Read Genetic variations in G-quadruplex forming sequences affect the transcription of human disease-related genes by Agustín Lorenzatti, Ernesto J Piga, Mauro Gismondi, Andrés Binolfi, Ezequiel Margarit, Nora B Calcaterra, Pablo Armas (2023) 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-10711447.txt.
Description
Agustín Lorenzatti and co-authors study how small DNA changes can bend DNA into knots that tune genes, in a 2023 paper. Stretches rich in the letter G can fold into four-stranded knots called G-quadruplexes. When such a knot sits near a gene's start, it can raise or lower how much the gene is read.
The team scan the whole genome for changes that sit both near gene starts and inside knot-forming stretches, then link them to diseases. They test five such changes in the lab, tied to Alzheimer's disease, a bleeding disorder, skin allergy, heart attack, and deafness. In cultured cells, each change shifted how its gene was read, which fits a role in disease risk. These knot sites could become new targets for tests and drugs tailored to each patient.
Catalog record
| CREATOR | Agustín Lorenzatti, Ernesto J Piga, Mauro Gismondi, Andrés Binolfi, Ezequiel Margarit, Nora B Calcaterra, Pablo Armas |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 70 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |