Signatures of natural selection in the human genome

@article{Bamshad2003SignaturesON,
  title={Signatures of natural selection in the human genome},
  author={Michael J. Bamshad and Stephen P. Wooding},
  journal={Nature Reviews Genetics},
  year={2003},
  volume={4},
  pages={99-111}
}
During their dispersal from Africa, our ancestors were exposed to new environments and diseases. Those who were better adapted to local conditions passed on their genes, including those conferring these benefits, with greater frequency. This process of natural selection left signatures in our genome that can be used to identify genes that might underlie variation in disease resistance or drug metabolism. These signatures are, however, confounded by population history and by variation in local… 

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References

SHOWING 1-10 OF 134 REFERENCES

Towards a molecular characterization of adaptation in local populations.

  • C. Schlötterer
  • Biology, Environmental Science
    Current opinion in genetics & development
  • 2002

Inference of selection from multiple species alignments.

  • Ziheng Yang
  • Biology
    Current opinion in genetics & development
  • 2002

Interrogating a high-density SNP map for signatures of natural selection.

TLDR
An analysis of single nucleotide polymorphisms with allele frequencies that were determined in three populations provides a first generation natural selection map of the human genome and provides compelling evidence that selection has shaped extant patterns of human genomic variation.

Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.

TLDR
A reconstruction of human differentiation based on 100 DNA polymorphisms tested in five populations from four continents shows that Europeans do not fit a simple model of independently evolving populations with equal evolutionary rates, and evolutionary models involving early admixture are compatible with the data.

Population genomics: a bridge from evolutionary history to genetic medicine.

TLDR
Some of the general patterns of human genetic variation are reviewed, and it is shown how knowledge of these patterns can aid in the mapping and cloning of disease-causing genes.

Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance

TLDR
The hypothesis that malaria has had a major impact on humans only since the introduction of agriculture within the past 10,000 years is supported and the locus of “A−” and ”Med” mutations provides a striking example of the signature of selection on the human genome.

Population, evolutionary and genomic consequences of interference selection.

TLDR
It is shown that IS reduces levels of polymorphism and increases low-frequency variants and linkage disequilibrium, in both selected and adjacent neutral mutations, and reasonably small differences in the length of intermediate "neutral" sequences embedded in a region under selection increase the effectiveness of selection on the adjacent selected sequences.

Sequencing the chimpanzee genome: insights into human evolution and disease

TLDR
Large-scale sequencing of the chimpanzee genome is now imminent, and chimpanzee–human comparisons are likely to yield molecular insights into how new biological characteristics evolve — findings that might be relevant throughout the tree of life.

Genetic Structure of Human Populations

TLDR
General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.

Genetic Structure of the Ancestral Population of Modern Humans

TLDR
This ancestral population was characterized by an effective size of about 10,000 as estimated from the nucleotide diversity; this size may describe the number of breeding individuals over a long time during the Middle Pleistocene or reflect a speciation bottleneck from an initially larger population at the end of this period.
...