Key result
New catalogue refines coordinates for 99 known HERV-K HML-2 proviral integrations across human genome assemblies.
Why the study?
The precise number of HERV-K HML-2 proviral copies is constantly changing as new integrations are uncovered, with multiple additions and modifications published since the 2011 list of 91 proviruses.
Provides an exhaustive, updated catalogue of all known HERV-K HML-2 proviral integrations to facilitate high-throughput genomic analyses in health and disease.
Answers are grounded in this paper and cite their sources.
Updated HERV-K catalogue supports disease association studies; extends reference annotations for high-throughput genomic analyses.
Human endogenous retroviruses (HERVs) occupy 8% of the human genome. Although most HERV integrations are severely degenerated by mutations, the most recently integrated proviruses, such as members of the HERV-K HML-2 subfamily, partially retain regulatory and protein-coding capacity. The precise number of HML-2 proviral copies in the modern human population is constantly changing in literature, as new integrations are being uncovered. The first comprehensive list of HML-2 proviral loci was compiled in 2011, including a total of 91 proviruses. Since then, multiple articles published additions and modifications to that list, mainly in the form of new polymorphic proviral sites, updated chromosomal band characterizations or the correspondence of coordinates in the new version of the published human reference genome. In the present study, we systematically searched the literature for lists of HML-2 proviruses and their coordinates and cross-examined every proviral locus information, also against the human genome. We gathered all available data about all HML-2 proviral integrations identified to date and updated, corrected and refined the coordinates in both human genome assemblies currently used in research, to incorporate the whole provirus in each case. Thereby we present an exhaustive (to date) catalogue of all known HML-2 proviruses and their respective coordinates, as a powerful tool for studies aiming to decipher HERV role in health and disease, especially for high-throughput data analyses, which could lead to the discovery of links between specific HERV integrations and biological mechanisms or medical disorders.
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Kyriakou et al. (2025) studied HERV-K HML-2 proviral integrations. Genomic database compilation was evaluated on Identification and coordinate mapping of HML-2 proviruses. A comprehensive catalogue of 99 known HERV-K HML-2 proviral integrations was compiled, updating and refining their coordinates in both hg19 and hg38 human genome assemblies.
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