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Palindrome-mediated chromosomal translocations in humans.
- Source :
-
DNA repair [DNA Repair (Amst)] 2006 Sep 08; Vol. 5 (9-10), pp. 1136-45. Date of Electronic Publication: 2006 Jul 10. - Publication Year :
- 2006
-
Abstract
- Recently, it has emerged that palindrome-mediated genomic instability contributes to a diverse group of genomic rearrangements including translocations, deletions, and amplifications. One of the best studied examples is the recurrent t(11;22) constitutional translocation in humans that has been well documented to be mediated by palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11. De novo examples of the translocation are detected at a high frequency in sperm samples from normal healthy males, but not in lymphoblasts or fibroblasts. Cloned breakpoint sequences preferentially form a cruciform configuration in vitro. Analysis of the junction fragments implicates frequent double-strand-breaks (DSBs) at the center of both palindromic regions, followed by repair through the non-homologous end joining (NHEJ) pathway. We propose that the PATRR adopts a cruciform structure in male meiotic cells, creating genomic instability that leads to the recurrent translocation.
Details
- Language :
- English
- ISSN :
- 1568-7864
- Volume :
- 5
- Issue :
- 9-10
- Database :
- MEDLINE
- Journal :
- DNA repair
- Publication Type :
- Academic Journal
- Accession number :
- 16829213
- Full Text :
- https://doi.org/10.1016/j.dnarep.2006.05.035