title: [Abnormality of telomere maintenance linked to bone marrow failures].
abstract: Telomeres are structural elements that seal and protect the ends of linear chromosomes from illegitimate recombination, end-to-end fusion, or being recognized as damaged DNA. These repeats are gradually lost with cellular replication and aging. Telomere attrition eventually leads to critically short telomeres, inducing cellular proliferative senescence and/or apoptosis possibly due to genomic instability. It is thought that telomeres are shortened as a result of pathogenic mutations in telomerase gene components which are DKC1, telomerase RNA component (TERC), and telomerase reverse transcriptase (TERT), and in SBDS gene that lead to an impairment in the proliferative capacity of hematopoietic stem cells in patients with inherited and acquired bone marrow failures.
authors.affiliation: Division of Hematology, Department of Internal Medicine, Nippon Medical School.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Yamaguchi
mesh_terms: D000818:Animals; D001855:Bone Marrow Diseases / Q000209:etiology*; D018797:Cell Cycle Proteins / Q000235:genetics; D049109:Cell Proliferation; D006412:Hematopoietic Stem Cells / Q000166:cytology; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D011506:Proteins / Q000235:genetics; D012313:RNA / Q000235:genetics; D019098:Telomerase / Q000235:genetics; D016615:Telomere / Q000235:genetics* / Q000473:pathology*
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D011506:Proteins; C470521:SBDS protein, human; C422952:telomerase RNA; D012313:RNA; D019098:Telomerase