Zeitschrift für Down-Syndrom und Chromosomenanomalien
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Abstrakt

The 3D Nuclear Organization of the Telomeres and Genomic Instability

Fábio M Oliveira

One of the main cause of genomic instability and cellular apoptosis is telomere dysfunction. Telomeres are specialized nucleo-protein complexes at the ends of chromosomes, which are composed of long tracts of double stranded TTAGGG repeats, bounded to highly repetitive DNA sequences. Besides its role for the maintenance of genomic stability, telomeres also provide a mechanism for “counting” cell divisions, and thus signal for replicative senescence. In this scenario, an important enzyme, telomerase, and several telomere binding factors with structural and regulatory action, participate in the control of telomere length and capping. The proper telomere capping preserves chromosomal integrity and prevents genomic instability.