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

A Buzdin, S Ustyugova, K Khodosevich, I Mamedov… - Genomics, 2003 - Elsevier
A Buzdin, S Ustyugova, K Khodosevich, I Mamedov, Y Lebedev, G Hunsmann, E Sverdlov
Genomics, 2003Elsevier
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∼ 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 …
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 ∼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.
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