Heterozygote advantage can explain the extraordinary diversity of immune genes

The majority of highly polymorphic genes are related to immune functions and with over 100 alleles within a population, genes of the major histocompatibility complex (MHC) are the most polymorphic loci in vertebrates. How such extraordinary polymorphism arose and is maintained is controversial. One...

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Main Authors: Mattias Siljestam, Claus Rueffler
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2024-11-01
Series:eLife
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Online Access:https://elifesciences.org/articles/94587
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author Mattias Siljestam
Claus Rueffler
author_facet Mattias Siljestam
Claus Rueffler
author_sort Mattias Siljestam
collection DOAJ
description The majority of highly polymorphic genes are related to immune functions and with over 100 alleles within a population, genes of the major histocompatibility complex (MHC) are the most polymorphic loci in vertebrates. How such extraordinary polymorphism arose and is maintained is controversial. One possibility is heterozygote advantage (HA), which can in principle maintain any number of alleles, but biologically explicit models based on this mechanism have so far failed to reliably predict the coexistence of significantly more than 10 alleles. We here present an eco-evolutionary model showing that evolution can result in the emergence and maintenance of more than 100 alleles under HA if the following two assumptions are fulfilled: first, pathogens are lethal in the absence of an appropriate immune defence; second, the effect of pathogens depends on host condition, with hosts in poorer condition being affected more strongly. Thus, our results show that HA can be a more potent force in explaining the extraordinary polymorphism found at MHC loci than currently recognised.
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spelling doaj-art-0903a9e567394f5d8a7f1c7eaeec77ae2025-08-20T02:46:53ZengeLife Sciences Publications LtdeLife2050-084X2024-11-011310.7554/eLife.94587Heterozygote advantage can explain the extraordinary diversity of immune genesMattias Siljestam0https://orcid.org/0000-0002-3720-4926Claus Rueffler1https://orcid.org/0000-0001-9836-2752Department of Ecology and Genetics, Animal Ecology, Uppsala University, Uppsala, SwedenDepartment of Ecology and Genetics, Animal Ecology, Uppsala University, Uppsala, SwedenThe majority of highly polymorphic genes are related to immune functions and with over 100 alleles within a population, genes of the major histocompatibility complex (MHC) are the most polymorphic loci in vertebrates. How such extraordinary polymorphism arose and is maintained is controversial. One possibility is heterozygote advantage (HA), which can in principle maintain any number of alleles, but biologically explicit models based on this mechanism have so far failed to reliably predict the coexistence of significantly more than 10 alleles. We here present an eco-evolutionary model showing that evolution can result in the emergence and maintenance of more than 100 alleles under HA if the following two assumptions are fulfilled: first, pathogens are lethal in the absence of an appropriate immune defence; second, the effect of pathogens depends on host condition, with hosts in poorer condition being affected more strongly. Thus, our results show that HA can be a more potent force in explaining the extraordinary polymorphism found at MHC loci than currently recognised.https://elifesciences.org/articles/94587allelic polymorpahismdivergent allele advantageevolutionary invasion analysisnegative frequency-dependent selectionhost-pathogen interaction
spellingShingle Mattias Siljestam
Claus Rueffler
Heterozygote advantage can explain the extraordinary diversity of immune genes
eLife
allelic polymorpahism
divergent allele advantage
evolutionary invasion analysis
negative frequency-dependent selection
host-pathogen interaction
title Heterozygote advantage can explain the extraordinary diversity of immune genes
title_full Heterozygote advantage can explain the extraordinary diversity of immune genes
title_fullStr Heterozygote advantage can explain the extraordinary diversity of immune genes
title_full_unstemmed Heterozygote advantage can explain the extraordinary diversity of immune genes
title_short Heterozygote advantage can explain the extraordinary diversity of immune genes
title_sort heterozygote advantage can explain the extraordinary diversity of immune genes
topic allelic polymorpahism
divergent allele advantage
evolutionary invasion analysis
negative frequency-dependent selection
host-pathogen interaction
url https://elifesciences.org/articles/94587
work_keys_str_mv AT mattiassiljestam heterozygoteadvantagecanexplaintheextraordinarydiversityofimmunegenes
AT clausrueffler heterozygoteadvantagecanexplaintheextraordinarydiversityofimmunegenes