June 14, 2011
We Each Have About 60 Unique Genetic Mutations

You are a mutant. Don't deny it. Accept your role in the mutant horde.

Each one of us receives approximately 60 new mutations in our genome from our parents.

This striking value is reported in the first-ever direct measure of new mutations coming from mother and father in whole human genomes published today.

For the first time, researchers have been able to answer the questions: how many new mutations does a child have and did most of them come from mum or dad? The researchers measured directly the numbers of mutations in two families, using whole genome sequences from the 1000 Genomes Project. The results also reveal that human genomes, like all genomes, are changed by the forces of mutation: our DNA is altered by differences in its code from that of our parents. Mutations that occur in sperm or egg cells will be 'new' mutations not seen in our parents.

The vast majority of those mutations are not in areas that affect gene expression or protein structure. But you might have a unique functional mutation. Do you feel really really weird? A mutation might explain it. Your body might be subtly twisted and strange and foreign to the rest of the human race. You might want to keep that to yourself.

In a very unexpected result some get far more mutations from their fathers and others from their mothers. Why should this be?

They sorted the mutations into those that occurred during the production of sperm or eggs of the parents and those that may have occurred during the life of the child: it is the mutation rate in sperm or eggs that is important in evolution. Remarkably, in one family 92 per cent of the mutations derived from the father, whereas in the other family only 36 per cent were from the father.

With full genome sequencing costs below $10k and dropping rapidly we are only a few years away from being able to find out just how unique we all are.

Share |      Randall Parker, 2011 June 14 08:28 AM  Trends, Human Evolution


Comments
bbartlog said at June 14, 2011 9:05 PM:

Were the variations in mutation source percentage consistent with a model where someone just has a higher mutation rate (due to environment, say smoking or exposure to teratogens / alkylating agents / shit that's bad for your DNA)? For example, in the case where 92% of mutations were from the father, was this accomplished by the father just producing more than the typical number of mutations (more than fivefold)?
Anyway, fascinating. You couldn't write a computer program in any language existing today that would still be likely to function after 60 random bytes were changed. But all of us toddle around, normal and oblivious to our damage, for the most part.

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