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Touzot, F, Callebaut, I, Soulier, J, Gaillard, L, Azerrad, C, Durandy, A, Fischer, A, de Villartay, JP and Revy, P (2010) Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. Proc. Natl. Acad. Sci. U.S.A. 107:10097-102


Telomeres, the protein-DNA complexes at the ends of linear chromosomes, are protected and regulated by the shelterin molecules, the telomerase complex, and other accessory factors, among which is Apollo, a DNA repair factor of the beta-lactamase/beta-CASP family. Impaired telomere protection in humans causes dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome, characterized by premature aging, bone marrow failure, and immunodeficiency. We identified a unique Apollo splice variant (designated Apollo-Delta) in fibroblasts from a patient with HH syndrome. Apollo-Delta generates a dominant negative form of Apollo lacking the telomeric repeat-binding factor homology (TRFH)-binding motif (TBM) required for interaction with the shelterin TRF2 at telomeres. Apollo-Delta hampers the proper replication of telomeres, leading to major telomeric dysfunction and cellular senescence, but maintains its DNA interstrand cross-link repair function in the whole genome. These results identify Apollo as a crucial actor in telomere maintenance in vivo, independent of its function as a general DNA repair factor.


PubMed PMC2890423 Online version:10.1073/pnas.0914918107


Alternative Splicing; Amino Acid Sequence; Base Sequence; Cells, Cultured; Cellular Senescence/genetics; Cellular Senescence/physiology; Child, Preschool; Conserved Sequence; DNA/genetics; DNA Damage; DNA Repair; DNA Repair Enzymes/genetics; DNA Repair Enzymes/metabolism; Dyskeratosis Congenita/genetics; Dyskeratosis Congenita/metabolism; Dyskeratosis Congenita/pathology; Exons; Female; Fibroblasts/metabolism; Genetic Complementation Test; Humans; In Situ Hybridization, Fluorescence; Molecular Sequence Data; Nuclear Proteins/genetics; Nuclear Proteins/metabolism; Protein Isoforms/genetics; Protein Isoforms/metabolism; Sequence Homology, Amino Acid; Sequence Homology, Nucleic Acid; Syndrome; Telomere/genetics; Telomere/metabolism