A polymorphic Alu insertion that mediates distinct disease-associated deletions

Eur J Hum Genet. 2016 Aug;24(9):1371-4. doi: 10.1038/ejhg.2016.20. Epub 2016 Mar 2.

Abstract

Large deletions that are associated with insertions of Alu-derived sequence represent a rare, but potentially unique class of alterations. Whether they form by a one-step mechanism or by a primary insertion step followed by an independent secondary deletion step is not clear. We resolved two disease-associated SPAST deletions, which involve distinct exons by long range PCR. Alu-derived sequence was observed between the breakpoints in both cases. The intronic regions that represent the targets of potentially involved Alu retrotransposition events overlapped. Microsatellite- and SNP-based haplotyping indicated that both deletions originated on one and the same founder allele. Our data suggest that the deletions are best explained by two-step insertion-deletion scenarios for which a single Alu retrotransposition event represents the shared primary step. This Alu then mediated one of the deletions by non-homologous end joining and the other by non-allelic homologous recombination. Our findings thus strongly argue for temporal separation of insertion and deletion in Alu insertion-associated deletions. They also suggest that certain Alu integrations confer a general increase in local genomic instability, and that this explains why they are usually not detected during the probably short time that precedes the rearrangements they mediate.

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Alleles
  • Alu Elements / genetics*
  • Chromosome Breakpoints
  • Exons
  • Gene Deletion
  • Homologous Recombination
  • Humans
  • Mutagenesis, Insertional*
  • Paraplegia / diagnosis
  • Paraplegia / genetics*
  • Polymorphism, Genetic*
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastin

Substances

  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human

Supplementary concepts

  • Spastic Paraplegia Type 4