Massive contractions of Myotonic Dystrophy Type 2-associated CCTG tetranucleotide repeats occur via double strand break repair with distinct requirements for helicases

Myotonic Dystrophy Type 2 (DM2) is a genetic disease caused by expanded CCTG DNA repeats in the first intron of CNBP. The number of CCTG repeats in DM2 patients ranges from 75–11,000, yet little is known about the molecular mechanisms responsible for repeat expansions or contractions. We developed a...

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Detalles Bibliográficos
Autores principales: Papp, David, Hernandez, Luis A., Mai, Theresa A., Haanen, Terrance J., O’Donnell, Meghan A., Duran, Ariel T., Hernandez, Sophia M., Narvanto, Jenni E., Arguello, Berenice, Onwukwe, Marvin O., Kolar, Kara, Mirkin, Sergei M., Kim, Jane C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350092/
https://www.ncbi.nlm.nih.gov/pubmed/37461657
http://dx.doi.org/10.1101/2023.07.06.548036

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