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Friday, December 21, 20071198243248

Human Genetic Variation is Science's Breakthrough of the Year!

Pennisi, E. (2007). Breakthrough of the year: Human genetic variation. Science, 318(5858), 1842-1843, available online: http://www.sciencemag.org/cgi/content/full/318/5858/1842 (from John Hawks).

We have gone from using genes to contrast us with the chimpanzees, to using genes to contrast us with each other:

The unveiling of the human genome almost 7 years ago cast the first faint light on our complete genetic makeup. Since then, each new genome sequenced and each new individual studied has illuminated our genomic landscape in ever more detail. In 2007, researchers came to appreciate the extent to which our genomes differ from person to person and the implications of this variation for deciphering the genetics of complex diseases and personal traits.

Less than a year ago, the big news was triangulating variation between us and our primate cousins to get a better handle on genetic changes along the evolutionary tree that led to humans. Now, we have moved from asking what in our DNA makes us human to striving to know what in my DNA makes me me.

Techniques that scan for hundreds of thousands of genetic differences at once are linking particular variations to particular traits and diseases in ways not possible before. Efforts to catalog and assess the effects of insertions and deletions in our DNA are showing that these changes are more common than expected and play important roles in how our genomes work--or don't work. By looking at variations in genes for hair and skin color and in the "speech" gene, we have also gained a better sense of how we are similar to and different from Neandertals.


In one study, geneticists discovered 3600 so-called copy number variants among 95 individuals studied. Quite a few overlapped genes, including some implicated in our individuality--blood type, smell, hearing, taste, and metabolism, for example. Individual genomes differed in size by as many as 9 million bases. This fall, another group performed an extensive analysis using a technique, called paired-end mapping, that can quickly uncover even smaller structural variations.

These differences matter. One survey concluded that in some populations almost 20% of differences in gene activity are due to copy-number variants; SNPs account for the rest. People with high-starch diets--such as in Japan--have extra copies of a gene for a starch-digesting protein compared with members of hunting-gathering societies. By scanning the genomes of autistic and healthy children and their parents for copy-number variation, other geneticists have found that newly appeared DNA alterations pose a risk for autism.

Relatedly: does genetics make Karl Popper obsolete? (Hat-tip to gnxp.)

07:20 Posted in Science | Permalink | Comments (1) | Tags: genetics


But...we've fought too hard!


Posted by: Jeffrey James | Friday, December 21, 2007