Friday, December 07, 2012

Harmful mutations


Most of the harmful mutations in people arose in the past 5,000 to 10,000 years

European Americans have a larger proportion of potentially harmful variants than African Americans --- probably an artefact of their original migration out of Africa
December 4, 2012

(Credit: iStockphoto)
The human genome has been busy over the past 5,000 years. Human populations have grown exponentially, and new genetic mutations arise with each generation, says Nature News.
Humans now have a vast abundance of rare genetic variants in the protein-encoding sections of the genome.
A study published in Nature now helps to clarify when many of those rare variants arose.
Researchers used deep sequencing to locate and date more than one million single-nucleotide variants — locations where a single letter of the DNA sequence is different from other individuals — in the genomes of 6,500 African and European Americans.
The findings confirm their earlier work suggesting that the majority of variants, including potentially harmful ones, were picked up during the past 5,000–-10,000 years. …

Cumulative proportion of single-nucleotide variants (SNVs) for a given allele age. The inset highlights the cumulative proportion of SNVs that are estimated to have arisen in the last 50,000 years. The x axis denotes allele age (x 1,000) and the y axis indicates the the cumulative proportion of SNVs (%). EA: European Americans; AA: African Americans. (Credit: Wenqing Fu et al./Nature)
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