Advantageous diversity maintained by balancing selection in humans

Key, Felix M.; Teixeira, João C.; Filippo, Cesare de; Andrés, Aida M.

doi:10.1016/j.gde.2014.08.001

Cited by 101 publications

(120 citation statements)

References 65 publications

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“…As expected with long-term balancing selection, where the time to the most recent common ancestor may predate the species split, many cases are shared among closely related lineages. These results provide further evidence that advantageous diversity is extremely important for the immune system, as has been shown in humans (Ferrer-Admetlla et al 2008; reviewed in Key et al 2014). Not surprisingly, the MHC genes are among the top candidate targets of balancing selection in all lineages.…”

Section: Discussionsupporting

confidence: 75%

Natural Selection in the Great Apes

et al. 2016

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Natural selection is crucial for the adaptation of populations to their environments. Here, we present the first global study of natural selection in the Hominidae (humans and great apes) based on genome-wide information from population samples representing all extant species (including most subspecies). Combining several neutrality tests we create a multi-species map of signatures of natural selection covering all major types of natural selection. We find that the estimated efficiency of both purifying and positive selection varies between species and is significantly correlated with their long-term effective population size. Thus, even the modest differences in population size among the closely related Hominidae lineages have resulted in differences in their ability to remove deleterious alleles and to adapt to changing environments. Most signatures of balancing and positive selection are species-specific, with signatures of balancing selection more often being shared among species. We also identify loci with evidence of positive selection across several lineages. Notably, we detect signatures of positive selection in several genes related to brain function, anatomy, diet and immune processes. Our results contribute to a better understanding of human evolution by putting the evidence of natural selection in humans within its larger evolutionary context. The global map of natural selection in our closest living relatives is available as an interactive browser at http://tinyurl.com/nf8qmzh.

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Section: Discussionsupporting

confidence: 75%

Natural Selection in the Great Apes

et al. 2016

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“…Consistent with this inference are signatures of positive selection for the chromosomal regions carrying genes affecting the cellular response to ultraviolet irradiation (Ding et al 2014). Similarly, the presence of Denisovan and Neanderthal human leucocyte antigen (HLA) haplotypes in living Oceanian and Eurasian populations, respectively, suggests the acquisition and retention of variants from populations whose immune systems were better adapted to local pathogens (Abi-Rached et al 2011), supporting the argument that immune-related loci appear to benefit significantly from the introduction of new genetic diversity through hybridization (Key et al 2014;Ségurel and Quintana-Murci 2014). Genes involved in innate immunity (i.e.…”

Section: Molecular Data Provide a Growing Body Of Evidence For Hybridmentioning

confidence: 85%

The Hybrid Origin of “Modern” Humans

2015

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Recent genomic research has shown that hybridization between substantially diverged lineages is the rule, not the exception, in human evolution. However, the importance of hybridization in shaping the genotype and phenotype of Homo sapiens remains debated. Here we argue that current evidence for hybridization in human evolution suggests not only that it was important, but that it was an essential creative force in the emergence of our variable, adaptable species. We then extend this argument to a reappraisal of the archaeological record, proposing that the exchange of cultural information between divergent groups may have facilitated the emergence of cultural innovation. We discuss the implications of this Divergence and Hybridization Model for considering the taxonomy of our lineage.

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“…1a), frequency-dependent selection, advantageous diversity fluctuating over time and space in specific populations or species, and pleiotropy [27, 136, 137]. Unlike other forms of selection, balancing selection can maintain functional diversity over periods of millions of years because selection conditions remain constant over time and are strong enough to avoid the loss of selected polymorphisms due to drift.…”

Section: Favoring Advantageous Variants To Increase Adaptationmentioning

confidence: 99%

Understanding rare and common diseases in the context of human evolution

Quintana-Murci

2016

Genome Biol

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The wealth of available genetic information is allowing the reconstruction of human demographic and adaptive history. Demography and purifying selection affect the purge of rare, deleterious mutations from the human population, whereas positive and balancing selection can increase the frequency of advantageous variants, improving survival and reproduction in specific environmental conditions. In this review, I discuss how theoretical and empirical population genetics studies, using both modern and ancient DNA data, are a powerful tool for obtaining new insight into the genetic basis of severe disorders and complex disease phenotypes, rare and common, focusing particularly on infectious disease risk.

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Advantageous diversity maintained by balancing selection in humans

Cited by 101 publications

References 65 publications

Natural Selection in the Great Apes

Natural Selection in the Great Apes

The Hybrid Origin of “Modern” Humans

Understanding rare and common diseases in the context of human evolution

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