GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
You don't have sufficient rights on this wiki to edit tables. Perhaps you need to log in. Changes you make in the Table editor will not be saved back to the wiki
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.
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