Human-specific subfamilies of HERV-K (HML-2) long terminal repeats: three master genes were active simultaneously during branching of hominoid lineages

Genomics. 2003 Feb;81(2):149-56. doi: 10.1016/s0888-7543(02)00027-7.


Using 40 known human-specific LTR sequences, we have derived a consensus sequence for an evolutionary young HERV-K (HML-2) LTR family, which was named the HS family. In the human genome the HS family is represented by approximately 150-160 LTR sequences, 90% of them being human-specific (hs). The family can be subdivided into two subfamilies differing in five linked nucleotide substitutions: HS-a and HS-b of 5.8 and 10.3 Myr evolutionary ages, respectively. The HS-b subfamily members were transpositionally active both before the divergence of the human and chimpanzee ancestor lineages and after it in both lineages. The HS-a subfamily comprises only hs LTRs. These and other data strongly suggest that at least three "master genes" of HERV-K (HML-2) LTRs were active in the human ancestor lineage after the human-chimpanzee divergence. We also found hs HERV-K (HML-2) LTRs integrations in introns of 12 human genes and identified 13 new hs HERV-K (HML-2) LTRs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Evolution, Molecular*
  • Haplorhini / genetics
  • Humans
  • Introns
  • Molecular Sequence Data
  • Multigene Family*
  • Phylogeny
  • Terminal Repeat Sequences*
  • Viral Proteins / genetics*


  • HERV-K cORF protein, Human endogenous retrovirus K
  • Viral Proteins

Associated data

  • GENBANK/AF532734
  • GENBANK/AF532735
  • GENBANK/AF532736
  • GENBANK/AF532737
  • GENBANK/AF532738
  • GENBANK/AY134884
  • GENBANK/AY134885
  • GENBANK/AY134886
  • GENBANK/AY134887
  • GENBANK/AY134888
  • GENBANK/AY134889
  • GENBANK/AY134890
  • GENBANK/AY134891