Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1
Riham Smoom, Catherine Lee May, Dan Lichtental, Kamil Bar-Ness, Reina Rangel, Johad Khoury, Daphna Nachmani, Dana Avrahami, Farida Ahangari, Emmanuel Skordalakes, Naftali Kaminski, Klaus H. Kaestner, Yehuda Tzfati
This study introduces two RTEL1 mouse models with distinct mutations at amino acid 492, showing that M492K affects telomere length while M492I impairs telomere protection, leading to different disease phenotypes.
Nucleic Acids Research · May 29, 2025Peer-reviewedGenetics