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Human endogenous retrovirus K solo-LTR formation and insertional polymorphisms: implications for human and viral
Jennifer F Hughes1, John M Coffin
1Department of Molecular Biology and Microbiology and Program in Genetics, Tufts University School of Medicine, 136 Harrison Avenue, Boston, MA 02111, USA.
Summary
Human endogenous retroviruses (HERVs), specifically HERV-K, contribute to genetic diversity. Recent analysis reveals solo LTR formation occurs frequently in the human genome, more so than in mice.
Area of Science:
- Genomics
- Human Genetics
- Molecular Evolution
Background:
- Human endogenous retroviruses (HERVs) are remnants of ancient retroviral infections integrated into the human genome.
- While many HERVs are inactivated, some HERV-K family members remain intact, suggesting recent activity and potential for genetic change.
Purpose of the Study:
- To investigate the frequency of HERV-K polymorphism in the human population.
- To determine if HERV-K elements have caused recent alterations in the human genome through solo-LTR formation.
Main Methods:
- Analysis of 13 human-specific HERV-K elements in 18 individuals using a high-resolution unblotting technique.
- Detailed sequence analysis of a specific provirus to understand solo-LTR formation events.
Main Results:
- Solo long terminal repeat (LTR) formations were observed at five of the 13 analyzed HERV-K loci.
- HERV solo-LTR formation occurs at a higher frequency in humans than previously reported in inbred mice.
- Sequence analysis indicated at least three independent solo-LTR formation events in recent history for one provirus.
Conclusions:
- HERV solo-LTR formation is a frequent event in the human genome, contributing to genetic diversity.
- Despite an estimated age of 1.2 million years, one HERV-K provirus has not yet reached fixation in the human population, indicating ongoing evolutionary dynamics.