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INVESTIGATING FUNCTIONAL RELEVANCE OF HUMAN ENDOGENOUS RETROVIRUS (HERV) REGION VARIANTS THROUGH COMPARATIVE ANCIENT GENOME ANALYSIS
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Date
2026-06
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Shahrazad Elnatsheh_OGS Approved Project.pdf
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Abstract
Human endogenous retroviruses (HERVs) are remnants of ancient retroviral infections, comprise nearly 8% of the human genome, and are increasingly recognized for their contributions to immunity, gene regulation, and disease susceptibility. However, how these regions have been formed by natural selection over time is still unclear. In this study, we investigated signatures of selection within HERV regions using phased ancient DNA samples from different populations, spanning the Neolithic to Middle Age time periods. Our dataset encompassed key geographic regions: the Mediterranean, Levant, Caucasus, Asia, and adjacent Western Türkiye. Applying the REHH framework (Gautier & Vitalis, 2012), we performed pairwise comparisons between successive chronological phases (Neolithic vs. Bronze Age, Bronze Age vs. Iron Age, Iron Age vs. Middle). This analysis identified significant haplotype blocks under differential selection across time, several of which overlapped with loci of known functional relevance. In particular, we assessed whether selected regions overlapped with genes implicated in adaptation, physiological regulation, and environmental responses, identifying cases in which selective pressure coincided with biologically meaningful functions. These findings suggest that HERV-associated variants were subject to adaptive pressures and may have contributed to adaptive or functional changes in ancient populations during shifting climatic, cultural, and lifestyle conditions across the Mediterranean, Levant, Caucasus, Asia, and adjacent Western Turkiye.