Most recent AluY insertions in human gene introns reduce the content of the primary transcripts in a cell type specific manner

Gene. 2007 Apr 1;390(1-2):122-9. doi: 10.1016/j.gene.2006.09.031. Epub 2006 Oct 17.


Being the most effectively transposed primate-specific SINEs, Alu elements are present in more than one million copies in the human genome and include most recently transposed subsets of AluY elements that are polymorphic in humans. Although Alu elements are commonly thought to play an essential role in shaping and functioning of primate genomes, the understanding of the impact of recent Alu insertions on human gene expression is far from being comprehensive. Here we compared hnRNA contents for allele pairs of genes heterozygous for AluY insertions in their introns in human cell lines of various origins. We demonstrated that some AluY insertions correlated with decreased content of the corresponding hnRNAs. The effect observed does not depend on sequences of Alu elements and their orientation but is likely to be cell type specific.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alu Elements*
  • Cell Line
  • Genome, Human
  • Heterozygote
  • Humans
  • Introns*
  • Polymorphism, Genetic
  • Transcription, Genetic