The Role of Phylogenetically Conserved Elements in Shaping Patterns of Human Genomic Diversity.

ABSTRACT: Evolutionary genetic studies have shown a positive correlation between levels of nucleotide diversity and either rates of recombination or genetic distance to genes. Both positive-directional and purifying selection have been offered as the source of these correlations via genetic hitchhiking and background selection, respectively. Phylogenetically conserved elements (CEs) are short (∼100 bp), widely distributed (comprising ∼5% of genome), sequences that are often found far from genes. While the function of many CEs is unknown, CEs also are associated with reduced diversity at linked sites. Using high coverage (>80×) whole genome data from two human populations, the Yoruba and the CEU, we perform fine scale evaluations of diversity, rates of recombination, and linkage to genes. We find tha

SUBMITTER: Woerner AE 

PROVIDER: S-EPMC6107059 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature