Haplotypes Spanning Centromeric Regions Reveal Persistence of Large Blocks of Archaic DNA
June 2018
in “
bioRxiv (Cold Spring Harbor Laboratory)
”
TLDR Humans have ancient DNA from Neanderthals and other lineages in their chromosomes, affecting traits and evolution.
The study identified large-scale haplotypes, termed cenhaps, in humans that span centromere-proximal regions of all metacentric chromosomes, revealing significant diversity, including entire Neanderthal centromeres and ancient lineages among Africans. These haplotypes contain variants, such as large differences in α-satellite DNA content, which could affect chromosome transmission. The findings provided new opportunities to explore their role in phenotypic variation and the evolution of these genomic regions.
