Human-specific remodeling of an endogenous retrovirus shapes structural diversity at acrocentric nucleolar organizer regions
- 1University of Alabama at Birmingham
Abstract
Human acrocentric short arms harbor K111, an endogenous retrovirus that became an integral component of nucleolar organizer region (NOR)-associated architecture across all five acrocentric chromosome types. Here we combine complete human and primate genomes, haplotype-resolved population assemblies and parent-offspring trios to reconstruct its evolution and transmission. Predominantly full-length ancestral elements underwent human-specific expansion and remodeling, generating recurrent mosaics and individual-specific multicopy configurations. Population structural variation is concentrated in surrounding satellite landscapes rather than within K111-derived sequences themselves. Trio-resolved genomes reveal direct parental transmission, single-parent remodeling and, crucially, maternal-paternal remodeling in distinct configurations: large reciprocal domains with contrasting parental affinities and de novo sequence exchange within an offspring locus. Raw long reads support both maternal-paternal configurations. K111-derived loci associate with nucleolin-positive compartments. Together, these findings establish K111 as an evolutionarily dynamic component and molecular record of acrocentric NOR architecture, revealing unrecognized remodeling and sequence generation across human generations.
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BibTeX
@misc{waseem2026humanspecific,
title = {{Human-specific remodeling of an endogenous retrovirus shapes structural diversity at acrocentric nucleolar organizer regions}},
author = {M. WASEEM and A. Datta and A. Imtiaz and H. O Neill and R. C. Galindo},
howpublished = {bioRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.11.751073},
url = {https://www.biorxiv.org/content/10.64898/2026.09.11.751073v1},
note = {CC BY},
}
RIS
TY - UNPB
TI - Human-specific remodeling of an endogenous retrovirus shapes structural diversity at acrocentric nucleolar organizer regions
AU - M. WASEEM
AU - A. Datta
AU - A. Imtiaz
AU - H. O Neill
AU - R. C. Galindo
PY - 2026
DA - 2026/09/11
PB - bioRxiv
DO - 10.64898/2026.09.11.751073
UR - https://www.biorxiv.org/content/10.64898/2026.09.11.751073v1
AB - Human acrocentric short arms harbor K111, an endogenous retrovirus that became an integral component of nucleolar organizer region (NOR)-associated architecture across all five acrocentric chromosome types. Here we combine complete human and primate genomes, haplotype-resolved population assemblies and parent-offspring trios to reconstruct its evolution and transmission. Predominantly full-length ancestral elements underwent human-specific expansion and remodeling, generating recurrent mosaics and individual-specific multicopy configurations. Population structural variation is concentrated in surrounding satellite landscapes rather than within K111-derived sequences themselves. Trio-resolved genomes reveal direct parental transmission, single-parent remodeling and, crucially, maternal-paternal remodeling in distinct configurations: large reciprocal domains with contrasting parental affinities and de novo sequence exchange within an offspring locus. Raw long reads support both maternal-paternal configurations. K111-derived loci associate with nucleolin-positive compartments. Together, these findings establish K111 as an evolutionarily dynamic component and molecular record of acrocentric NOR architecture, revealing unrecognized remodeling and sequence generation across human generations.
ER -