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  Immune gene diversity in archaic and present-day humans

Reher, D., Key, F. M., Andres, A., & Kelso, J. (2018). Immune gene diversity in archaic and present-day humans. bioRxiv, 348581. doi:10.1101/348581.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0001-E574-A Version Permalink: http://hdl.handle.net/21.11116/0000-0006-DFF8-8
Genre: Paper

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 Creators:
Reher, David, Author
Key, Felix Michael1, Author              
Andres, Aida, Author
Kelso, Janet, Author
Affiliations:
1Archaeogenetics, Max Planck Institute for the Science of Human History, Max Planck Society, ou_2074310              

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 Abstract: 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 there may have been no ongoing reduction in gene diversity in later Neandertals. In both archaic and present-day humans, the genes with the highest levels of diversity are enriched for MHC-related functions. Interestingly, in archaic humans the MHC genes show evidence of having retained more diversity than genes involved only in the innate immune system.

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Language(s): eng - English
 Dates: 2018-06-16
 Publication Status: Published online
 Pages: 25
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 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1101/348581
Other: shh1050
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Title: bioRxiv
Source Genre: Journal
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Publ. Info: Cold Spring Harbor : Cold Spring Harbor Laboratory
Pages: - Volume / Issue: - Sequence Number: 348581 Start / End Page: - Identifier: URI: https://www.biorxiv.org/