A rare event of insertion polymorphism of a HERV-K LTR in the human genome

Genomics. 2004 Sep;84(3):596-9. doi: 10.1016/j.ygeno.2004.04.010.


Human endogenous retroviruses (HERVs), which constitute a significant part of the human genome, might have a serious impact on primate evolution. Over a hundred insertions of HERV-K(HML-2) family members distinguish the human genome from other primate genomes. However, only three cases of insertion polymorphisms have been reported so far, all for endogenous HERV-K proviruses. This suggests that some retroviral integrations occurred rather recently in human genome evolution. In this report, we describe a very rare case of true insertion polymorphism of a solitary HERV-K LTR in the human genome. Distribution of the LTR-containing allele was tested in 5 Africans and 83 individuals from three Russian populations. The allele frequency appeared to be relatively high in populations of both European and Asian origin. The detected polymorphic LTR could be a useful molecular genetic marker of the corresponding genomic region.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Base Sequence
  • Cluster Analysis
  • Endogenous Retroviruses / genetics*
  • Evolution, Molecular
  • Gene Frequency
  • Genome, Human*
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Russia
  • Sequence Analysis, DNA
  • Terminal Repeat Sequences / genetics*

Associated data

  • GENBANK/AY525758
  • GENBANK/AY525759
  • GENBANK/AY525760
  • GENBANK/AY525761