Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication.

ABSTRACT: Human subtelomeres are polymorphic patchworks of interchromosomal segmental duplications at the ends of chromosomes. Here we provide evidence that these patchworks arose recently through repeated translocations between chromosome ends. We assess the relative contribution of the principal mechanisms of ectopic DNA repair to the formation of subtelomeric duplications and find that non-homologous end-joining predominates. Once subtelomeric duplications arise, they are prone to homology-based sequence transfers as shown by the incongruent phylogenetic relationships of neighbouring sections. Interchromosomal recombination of subtelomeres is a potent force for recent change. Cytogenetic and sequence analyses reveal that pieces of the subtelomeric patchwork have changed location and copy number w

SUBMITTER: Linardopoulou EV 

PROVIDER: S-EPMC1368961 | biostudies-literature | 2005 Sep

REPOSITORIES: biostudies-literature