Immune gene diversity in archaic and present-day humans

BioRxiv : the Preprint Server for Biology
David ReherJanet Kelso


Genome-wide analyses of two Neandertals and a Denisovan have shown that these archaic humans had lower heterozygosity than present-day people. A similar reduction in genetic diversity of all protein-coding genes (gene diversity) was found in exome sequences of three Neandertals. Reduced gene diversity, and particularly in genes involved in immunity, may have important functional consequences. In fact, it has been suggested that reduced diversity in immune genes may have contributed to Neandertal extinction. We therefore explored gene diversity in different human groups and at different time points on the Neandertal lineage with a particular focus on the diversity of genes involved in innate immunity and genes of the Major Histocompatibility Complex (MHC). We find that the Neandertals and the Denisovan have similar gene diversity, both significantly lower than any present-day human. This is true across gene categories, with no gene set showing an excess decrease in diversity compared to the genome-wide average. Innate immune-related genes show a similar reduction in diversity to other genes, both in present-day and archaic humans. There is also no observable decrease in gene diversity over time in Neandertals, suggesting that th...Continue Reading

Related Concepts

Genome-Wide Association Study
Immune System
Major Histocompatibility Complex
Major histocompatibility complex protein
Entire Immune System

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