Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.

Abstract

We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1 loci. These complex rearrangements were characterized by a triplicated segment embedded within a duplication in 11 unrelated subjects. Notably, only two breakpoint junctions were generated during each rearrangement formation. All the complex rearrangement products share a common genomic organization, duplication-inverted triplication-duplication (DUP-TRP/INV-DUP), in which the triplicated segment is inverted and located between directly oriented duplicated genomic segments. We provide evidence that the DUP-TRP/INV-DUP structures are mediated by inverted repeats that can be separated by >300 kb, a genomic architecture that apparently leads to susceptibility to such complex rearrangements. A similar inverted repeat-mediated mechanism may underlie structural variation in many other regions of the human genome. We propose a mechanism that involves both homology-driven events, via inverted repeats, and microhomologous or nonhomologous events.

Publication types

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

MeSH terms

  • Gene Rearrangement*
  • Genome, Human*
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Repetitive Sequences, Nucleic Acid*

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2