Telomere dysfunction in genome instability syndromes

Elsa Callén, Jordi Surrallés

Research output: Contribution to journalReview articleResearchpeer-review

77 Citations (Scopus)


Telomeres are nucleoprotein complexes located at the end of eukaryotic chromosomes. They have essential roles in preventing terminal fusions, protecting chromosome ends from degradation, and in chromosome positioning in the nucleus. These terminal structures consist of a tandemly repeated DNA sequence (TTAGGG in vertebrates) that varies in length from 5 to 15 kb in humans. Several proteins are attached to this telomeric DNA, some of which are also involved in different DNA damage response pathways, including Ku80, Mre11, NBS and BLM, among others. Mutations in the genes encoding these proteins cause a number of rare genetic syndromes characterized by chromosome and/or genetic instability and cancer predisposition. Deletions or mutations in any of these genes may also cause a telomere defect resulting in accelerated telomere shortening, lack of end-capping function, and/or end-to-end chromosome fusions. This telomere phenotype is also known to promote chromosomal instability and carcinogenesis. Therefore, it is essential to understand the interplay between telomere biology and genome stability. This review is focused in the dual role of chromosome fragility proteins in telomere maintenance. © 2004 Elsevier B.V. All rights reserved.
Original languageEnglish
Pages (from-to)85-104
JournalMutation Research - Reviews in Mutation Research
Issue number1
Publication statusPublished - 1 Sep 2004


  • DNA sequence
  • Genome instability syndromes
  • Telomere dysfunction


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