New Paper in PNAS: Primate genome architecture influences structural variation mechanisms and functional consequences

Our efforts to resequence and analyze primate genomes with a focus on genomic structural variation has now been published. Here is the link for the paper and here is the link for the curated datasets.

The study, I think, is a major step forward to understand evolution of primate genomes. Now that several papers from Eichler & Marques-Bonet labs describing the great ape variation is also out, I will be in the looking forward to a new gold-rush for finding surprising evolutionary trends in primates.


Although nucleotide resolution maps of genomic structural variants (SVs) have provided insights into the origin and impact of phenotypic diversity in humans, comparable maps in nonhuman primates have thus far been lacking. Using massively parallel DNA sequencing, we constructed fine-resolution genomic structural variation maps in five chimpanzees, five orang-utans, and five rhesus macaques. The SV maps, which are comprised of thousands of deletions, duplications, and mobile element insertions, revealed a high activity of retrotransposition in macaques compared with great apes. By comparison, nonallelic homologous recombination is specifically active in the great apes, which is correlated with architectural differences between the genomes of great apes and macaque. Transcriptome analyses across nonhuman primates and humans revealed effects of species-specific whole-gene duplication on gene expression. We identified 13 gene duplications coinciding with the species-specific gain of tissue-specific gene expression in keeping with a role of gene duplication in the promotion of diversification and the acquisition of unique functions. Differences in the present day activity of SV formation mechanisms that our study revealed may contribute to ongoing diversification and adaptation of great ape and Old World monkey lineages.

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