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

Anton Buzdin, Svetlana Ustyugova, Konstantin Khodosevich, Ilgar Mamedov, Yuri Lebedev, Gerhard Hunsmann, Eugene Sverdlov

56 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalGenomics
Volume81
Issue number2
Pages (from-to)149-56
Number of pages8
ISSN0888-7543
Publication statusPublished - Feb 2003
Externally publishedYes

Keywords

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

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