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The importance of immune gene variability (MHC) in evolutionary ecology and conservation
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Genetic studies have typically inferred the effects of human impact by documenting patterns of genetic differentiation and levels of genetic diversity among potentially isolated populations using selective neutral markers such as mitochondrial control region sequences, microsatellites or single nucleotide polymorphism (SNPs). However, evolutionary relevant and adaptive processes within and between populations can only be reflected by coding genes. In vertebrates, growing evidence suggests that genetic diversity is particularly important at the level of the major histocompatibility complex (MHC). MHC variants influence many important biological traits, including immune recognition, susceptibility to infectious and autoimmune diseases, individual odours, mating preferences, kin recognition, cooperation and pregnancy outcome. These diverse functions and characteristics place genes of the MHC among the best candidates for studies of mechanisms and significance of molecular adaptation in vertebrates. MHC variability is believed to be maintained by pathogen-driven selection, mediated either through heterozygote advantage or frequency-dependent selection. Up to now, most of our knowledge has derived from studies in humans or from model organisms under experimental, laboratory conditions. Empirical support for selective mechanisms in free-ranging animal populations in their natural environment is rare. In this review, I first introduce general information about the structure and function of MHC genes, as well as current hypotheses and concepts concerning the role of selection in the maintenance of MHC polymorphism. The evolutionary forces acting on the genetic diversity in coding and non-coding markers are compared. Then, I summarise empirical support for the functional importance of MHC variability in parasite resistance with emphasis on the evidence derived from free-ranging animal populations investigated in their natural habitat. Finally, I discuss the importance of adaptive genetic variability with respect to human impact and conservation, and implications for future studies.
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![Figure 1 Differences between the rates of non-synonymous (dn) and synonymous (ds) substitutions (= dn-ds, amino acid sequence-changing substitution rate) in antigen-binding sites (ABS, shaded bars) and nonantigen-binding sites (nonABS, black bars) of MHC class II DRB exon 2 alleles of the species included in Table 2. Abbreviations follow the MHC nomenclature [42], the first two letters of the genus and the species name are used.](/paper-figures/8a0014158cd34647b4fa75c389d3f9ac/the-importance-of-immune-gene-variability-mhc-in-evolutionary-ecology-and-figure-1.jpg)
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“Genetic diversity in the MHC is believed to impact wildlife health and conservation128–131.”
From Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics (2024) · cites this paper as [128]
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Metadata
- Authors
- Sommer, S.
- Affiliations
- Universität Hamburg (DE)
- Corresponding author
- Sommer, Simone
- ORCID
- Sommer, Simone
- Venue
- Frontiers in Zoology
- Published
- 2005-10-20
- Volume
- 2
- Issue
- 1
- Pages
- 16-16
- ISSN
- 1742-9994 (ISSN-L)
- PMC
- PMC1282567
- OpenAlex
- W2098073190
- Cited by
- 913
- References
- 215
- Citations by year
- 2026: 21 · 2025: 41 · 2024: 44 · 2023: 36 · 2022: 30 · 2021: 46 · 2020: 64 · 2019: 44 · 2018: 59 · 2017: 72 · 2016: 64 · 2015: 60 · 2014: 50 · 2013: 46 · 2012: 53
- FWCI
- 13.35
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Frontiers in Zoology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Animal Behavior and Reproduction
- Keywords
- major histocompatibility complex, MHC polymorphism, pathogen-driven selection, overdominance, frequency-dependent selection, parasite resistance, adaptive genetic diversity, human impact on wildlife, conservation genetics, free-ranging populations
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