Telomeres are specialised structures that protect chromosome ends from degradation and fusion events. In most eukaryotes, including yeast and mammals, telomeric DNA consists of short, repetitive G‐rich sequences, which end with 3′ G‐rich overhangs and are elongated by the specialised reverse transcriptase telomerase. Telomeric repeats are bound by several DNA‐binding proteins, which regulate telomerase activity and protect (cap) chromosome ends from degradation and inappropriate DNA repair. If uncapped, telomeres are sensed as DNA breaks and undergo unwanted DNA repair, which can eventually lead to the activation of cell cycle checkpoints and/or to end‐to‐end fusion. The dicentric chromosomes generated by telomeric fusion can cause non‐disjunction and chromosome breakage during anaphase. These events result in loss of genetic material and chromosome rearrangements that in mammals might lead to several diseases including cancer. Thus, it has become evident that telomeres play critical roles in the maintenance of genome stability.

Telomere / Raffa, GRAZIA DANIELA; Cenci, Giovanni. - In: eLS. - ELETTRONICO. - (2015), pp. 1-6. [10.1002/9780470015902.a0005787.pub3]

Telomere

RAFFA, GRAZIA DANIELA;CENCI, GIOVANNI
2015

Abstract

Telomeres are specialised structures that protect chromosome ends from degradation and fusion events. In most eukaryotes, including yeast and mammals, telomeric DNA consists of short, repetitive G‐rich sequences, which end with 3′ G‐rich overhangs and are elongated by the specialised reverse transcriptase telomerase. Telomeric repeats are bound by several DNA‐binding proteins, which regulate telomerase activity and protect (cap) chromosome ends from degradation and inappropriate DNA repair. If uncapped, telomeres are sensed as DNA breaks and undergo unwanted DNA repair, which can eventually lead to the activation of cell cycle checkpoints and/or to end‐to‐end fusion. The dicentric chromosomes generated by telomeric fusion can cause non‐disjunction and chromosome breakage during anaphase. These events result in loss of genetic material and chromosome rearrangements that in mammals might lead to several diseases including cancer. Thus, it has become evident that telomeres play critical roles in the maintenance of genome stability.
telomeres, telomeric proteins, telomeric fusions, telomere capping, DNA damage checkpoint, telomere dysfunction
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Telomere / Raffa, GRAZIA DANIELA; Cenci, Giovanni. - In: eLS. - ELETTRONICO. - (2015), pp. 1-6. [10.1002/9780470015902.a0005787.pub3]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/953911
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