Mutations Helped Humans Survive Siberian Winters

1. Just like the article says and unlike the Slashdot summary suggests, shiver-free thermogenesis is old and all mammals share it.

2. The researchers found traces of positive selection in a gene involved in shiver-free thermogenesis.

3. How do you look for traces of selection? A mutation in a DNA fragment coding for a protein can have two effects: either it changes the corresponding amino acid in the protein sequence (non-synonymous mutation), or it does not (synonymous mutation). This is because genetic code is redundant and different codons code for same amino acids, so a change from one codon to another does not have to change the protein. Synonymous mutations are assumed to be neutral for evolution (although they are not, not always).

Now, if you look at many possible variants of a gene and collect many different mutations, you can calculate whether the ratio of non-synonymous to synonymous mutations (called the dN/dS ratio) is (i) higher (ii) lower or (iii) quite like expected. Depending on the outcome of the test, you can say:

- if it is higher than expected, then there is a positive selection force at work (the gene is pushed towards change)
- if it is lower than expected, then we have a case of purifying selection; the gene is being actively maintained as it is, and any non-synonymous mutations are being removed from the population
- if it is neither lower nor higher, the gene is just not important

4. So, nice, you found that a gene related to non-shiver thermogenesis shows traces of positive selection. So what?

The answer is, not much. You do not always know which mutation was the one being selected. And even if you can pinpoint it, very often you will not be able to say what it actually does. So fine, you have a leucine replaced by arginine at position 186 in a protein chain; you might be able even to model the new sequence and see a delicate shift in the structure of the protein. How does it relate to the protein function? What has been modified or improved? No idea.

5. OK, why is that important? It is important because much of the genetic variability of the humans that we know is thought to have been fixated by genetic drift and other neutral evolutionary effects (like surfing the wave of colonization) - rather than selection. There are few examples of selection known. Light skin is one of them, and is thought to be an adaptation to the vitamin D deficiency caused by lack of sun at high latitudes. Mutation that keeps lactase being produced throughout life is another one. There were independent (convergent) events in both cases, by the way.

Look, humans are special. Special in the sense that humans are genetically extremely uniform, and the genetic differences between, say, native Australian, a blond-haired, blue-eyed Swede and a member of the Mbuti people from Africa are all together much smaller than between two chimpanzee individuals from groups living a few hundred kilometers apart. And moreover, these few mutations specific for some people but not for other seem to be more or less neutral in their character.

Finding differences that are *not* neutral, that are actually doing something is therefore an interesting thing. Notably, the few existing differences like that are linked to mundane things like metabolism or immune response (yes, some people are special because they don't fart after drinking milk, how is that for a superior race), and not, for example, to cognitive and brain development. The latter differences are found between humans and other primates.

Source: http://rss.slashdot.org/~r/Slashdot/slashdotScience/~3/KhNobONSgh0/story01.htm

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