Gene Losses in the Human Genome

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Science  17 Feb 2012:
Vol. 335, Issue 6070, pp. 806-807
DOI: 10.1126/science.1219299

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Characterizing variation in the human genome at the individual and population levels has provided fundamental information on population history, structure, and admixture (interbreeding), as well as on how natural selection has targeted specific genomic regions and biological functions. It also helps to clarify the contribution of genetic diversity to variation in human phenotypic traits, both benign and disease-related. Next-generation DNA sequencing is providing insights into the types of genetic variation that characterize the human genome, such as single-nucleotide polymorphisms, copy-number variants, and mobile elements, and also on the burden of deleterious variants that may be present in our genomes (13). On page 823 of this issue, MacArthur et al. (4) use this information to systematically investigate the true number, effects, and evolutionary properties of loss-of-function (LoF) variants located in human protein-coding genes. They estimate that an individual carries ∼100 LoF variants, with ∼20 genes having been completely lost.