Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita

    April 2025 in “ Science Advances ”
    Adrián Sanz‐Moreno, Lore Becker, Kan Xie, Patricia da Silva‐Buttkus, Nathalia Romanelli Vicente Dragano, Juan Antonio Aguilar‐Pimentel, Oana V. Amarie, Julia Calzada‐Wack, Markus Kraiger, Stefanie Leuchtenberger, Claudia Seisenberger, Susan Marschall, Birgit Rathkolb, Enzo Scifo, Ting Liu, Anoja Thanabalasingam, Raúl Sánchez-Vazquez, Paula Felippe Martinez, Marı́a A. Blasco, Sharon A. Savage, Helmut Fuchs, Dan Ehninger, Valérie Gailus‐Durner, Martin Hrabě de Angelis
    TLDR Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
    The study investigates the role of TEN1 in telomere maintenance by creating a murine model with Ten1 deficiency through CRISPR-Cas9-mediated exon 3 deletion. The Ten1 homozygous knockout mice exhibited telomere shortening, reduced lifespan, skin hyperpigmentation, aplastic anemia, and cerebellar hypoplasia. Molecular analyses showed decreased cell proliferation, increased apoptosis, and stem cell depletion, with activation of the p53/p21 signaling pathway. These findings suggest that Ten1 deficiency leads to telomere attrition and is associated with symptoms resembling human dyskeratosis congenita, highlighting its role in telomere biology and aging.
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