title: Human-specific subfamilies of HERV-K (HML-2) long terminal repeats: three master genes were active simultaneously during branching of hominoid lineages.
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.
authors.affiliation: Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, 16/10 Miklukho-Maklaya, 117997 Moscow, Russia. anton@humgen.siobc.ras.ru
authors.forename: Anton
authors.initials: A
authors.lastname: Buzdin
authors.forename: Svetlana
authors.initials: S
authors.lastname: Ustyugova
authors.forename: Konstantin
authors.initials: K
authors.lastname: Khodosevich
authors.forename: Ilgar
authors.initials: I
authors.lastname: Mamedov
authors.forename: Yuri
authors.initials: Y
authors.lastname: Lebedev
authors.forename: Gerhard
authors.initials: G
authors.lastname: Hunsmann
authors.forename: Eugene
authors.initials: E
authors.lastname: Sverdlov
mesh_terms: D000818:Animals; D019143:Evolution, Molecular; D000882:Haplorhini / Q000235:genetics; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D005810:Multigene Family; D010802:Phylogeny; D020079:Terminal Repeat Sequences; D014764:Viral Proteins / Q000235:genetics*
chemical_list: C406149:HERV-K cORF protein, Human endogenous retrovirus K; D014764:Viral Proteins