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Human-specific HERV-K insertion causes genomic variations in the human genome
Wonseok Shin1, Jungnam Lee, Seung-Yeol Son
1Department of Nanobiomedical Science and WCU Research Center, Dankook University, Cheonan, Republic of Korea.
Plos One
|April 18, 2013
Summary
Newly discovered human-specific Human Endogenous Retroviruses-K (HERV-K) insertions have altered the human genome since human-chimp divergence. These retroviral elements contribute to genomic differences within humans and between species.
Area of Science:
- Genomics
- Molecular Biology
- Evolutionary Biology
Background:
- Human endogenous retroviruses (HERVs) constitute approximately 8% of the human genome.
- HERV-K is a family of endogenous retroviruses with recent activity in the human lineage.
Purpose of the Study:
- To identify and characterize human-specific HERV-K insertions.
- To investigate the impact of these insertions on the human genome and their role in human evolution.
Main Methods:
- Comparative genomics and literature mining to identify HERV-K insertions.
- Sequence analysis to characterize insertion structure and flanking regions.
- Polymorphism testing to assess prevalence in the human population.
Main Results:
- Identified 29 human-specific HERV-K insertions.
- Observed genomic deletions caused by four insertions via non-classical mechanisms.
- Found complex insertion patterns suggesting LTR-mediated recombination or template switching.
- Determined that 12 of the 29 elements are polymorphic in humans.
Conclusions:
- Human-specific HERV-K elements have inserted post-human-chimpanzee divergence, inducing genomic alterations.
- HERV-K activity has contributed to genomic divergence between humans and chimpanzees.
- These insertions also contribute to genetic variation within the human population.
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