Palindrome-mediated chromosomal translocations in humans

DNA Repair (Amst). 2006 Sep 8;5(9-10):1136-45. doi: 10.1016/j.dnarep.2006.05.035. Epub 2006 Jul 10.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • AT Rich Sequence
  • Chromosome Breakage*
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 22*
  • Humans
  • Male
  • Models, Genetic
  • Repetitive Sequences, Nucleic Acid*
  • Spermatozoa / metabolism
  • Translocation, Genetic*