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Human genome variability, natural selection and infectious diseases.
Matteo Fumagalli1, Manuela Sironi2
1UCL Genetics Institute, Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, United Kingdom.
Current Opinion in Immunology
|June 2, 2014
Summary
Human genomic variation reveals immune system evolution driven by infectious diseases. Natural selection has shaped genes, highlighting pathogen impacts on human populations and infection susceptibility.
Area of Science:
- Population genomics
- Human evolution
- Molecular immunology
Background:
- Large-scale DNA sequencing data enables the study of genomic variation across populations.
- Demographic factors influence genome-wide genetic diversity.
- Natural selection signatures indicate regions of non-neutral evolution, particularly in immune-related genes.
Purpose of the Study:
- To investigate the distribution of genomic variation in human populations.
- To understand the role of natural selection, especially pathogen-mediated selection, on the human genome.
- To identify genetic factors influencing infection susceptibility.
Main Methods:
- Analysis of large-scale DNA sequencing data.
- Genome-wide scans for signatures of natural selection.
- Integration of population genomics with molecular immunology and functional annotation data.
Main Results:
- Demographic factors explain overall genetic diversity.
- Natural selection has significantly impacted specific genomic regions, with a notable enrichment of immune-related genes.
- Pathogen-mediated selection frequently targets regulatory sites within biological pathways.
Conclusions:
- Infectious diseases have exerted strong selective pressures throughout human history, shaping immune system genes.
- Understanding pathogen-driven evolution can reveal mutations affecting infection susceptibility.
- Integrating population genomics and immunology offers a powerful approach to studying human adaptation and disease resistance.
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