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Human genetics

Mapping the common variation

Nature Reviews Genetics volume 6, page 874 (2005)Cite this article

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The aim was to create a public, genome-wide database of common human variation. In Phase I, 1 common SNP (with a minor allele frequency of at least 0.05) was genotyped per 5 kb on a genome-wide scale in each of the project's 269 DNA samples. These come from the Yoruba in Nigeria, Japanese in Tokyo, Han Chinese in Beijing and the Centre d'Etude du Polymorphisme Human collection, from Utah.

Using the HapMap data the authors confirmed that the human genome has a block structure; this is because recombination occurs mainly in short regions called recombination hotspots. They also constructed a fine-scale genetic map of the human genome, analysis of which led to an unexpected observation. Gene-rich regions that encode, for example, immune response or neurophysiological functions lie in regions of high recombination, whereas regions rich in genes that are associated with 'core cellular function' such as DNA and RNA metabolism lie in regions of low recombination. It seems therefore that the HapMap data contain information about natural selection.

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References

ORIGINAL RESEARCH PAPER

  1. The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299–1320 (2005)

FURTHER READING

  1. Hirschhorn, J. N. & Daly, M. J. Genome-wide association studies for common diseases and complex traits. Nature Rev. Genet. 6, 95–108 (2005)

    Article  CAS  Google Scholar 

  2. The International HapMap Consortium. Integrating ethics and science in the International HapMap Project. Nature Rev. Genet. 5, 467–475 (2004)

  3. Kauppi, L. et al. Where the crossovers are: recombination distributions in mammals. Nature Rev. Genet. 5, 413–424 (2004)

    Article  CAS  Google Scholar 

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Authors
  1. Magdalena Skipper
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dbSNP homepage

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International HapMap Project

Human Genome Project

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Skipper, M. Mapping the common variation. Nat Rev Genet 6, 874 (2005). https://doi.org/10.1038/nrg1752

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