Human acrocentric short arms contain nucleolar organizer region (NOR) associated repeat domains whose evolution and transmission remain poorly resolved. Here we use K111, an endogenous retrovirus embedded within these regions, as a sequence marker to trace acrocentric chromosome diversification across great-ape evolution, human populations and parent-offspring transmission. Comparative and haplotype-resolved genomes reveal expansion of K111 derived sequences across human acrocentrics, extensive structural diversification from predominantly full-length ancestral forms, recurrent sequence mosaics and multiple K111 family loci on individual haplotypes. Population-scale structural variation is concentrated in surrounding satellite DNA rather than within K111 derived sequences themselves. Trio-resolved analyses reveal contrasting maternal-paternal ancestry and remodeling across reciprocal domains and de novo sequence exchange independently supported by raw long reads. K111 derived loci also associate with nucleolin positive compartments. Together, these findings reveal sequence exchange during human transmission within NOR associated acrocentric domains and establish K111 as a molecular record of their evolution and transmission.
WASEEM, M., Datta, A., Imtiaz, A., O Neill, H., Galindo, R. C.
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