Haplotypes Spanning Centromeric Regions Reveal Persistence of Large Blocks of Archaic DNA

In 2019, a study analyzed the persistence of large blocks of archaic DNA, particularly in the centromeric regions of modern human genomes. The research used 8816 SNPs from 5008 imputed genotypes from the 1000 Genomes Project. The study found that these blocks of DNA, which are prevalent in regions essential for cell division, may have been preserved due to some selective advantage. The research also identified large-scale haplotypes (cenhaps) in humans that span the centromere-proximal regions of all metacentric chromosomes. These cenhaps revealed deep diversity, including entire introgressed Neanderthal centromeres and equally ancient lineages among Africans. The study concluded that chromosomes X, 11, and 12 harbor a diversity of large haplotypes, including those representing archaic lineages. The identification of human cenhaps provides a framework to quantitatively address questions about the evolution of these unique genomic regions.