Mummy’s little mutant

You’re a mutant. That’s right, a hideous genetic freak. But don’t worry, I’m one too, and so is that perfect boy/girl who lives next door.

We all carry mutations, variations in the genetic code received from our parents. But exactly how many? Do they come from our mothers or our fathers? And what superpowers do they give us?

All 46 human chromosomes with colour added to distinguish the pairs (click to embiggen)
Karyotype, or set of 46 chromosomes, of a human being. The colour isn't real, it's been added to help identify the pairs.

New research sequencing two sets of parents and children has indicated that we probably each carry somewhere between 30 and 50 mutations (Conrad DF, Keebler JEM, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME & Awadalla P 2011, “Variation in genome-wide mutation rates within and between human families”, Nature Genetics 43, pp. 712–714).

It’s tempting to blame our fathers for this – men are constantly producing more sperm cells, which you’d expect would give more opportunity for mutations – but results were very mixed between the two families. In one case, 94% of mutations came from the father, while in the other 64% came from the mother.

As for superpowers… Well, just be thankful that most of your mutations seem to be benign.

This research is actually a product of the 1000 Genome Project, an international collaboration studying human genetic variation.  Their aim is to sequence the genomes of 2500 individuals (making the name comparatively unambitious) from 25 populations around the world, and making the resulting catalogue freely available to other researchers.

To find out more about the project, visit www.1000genomes.org.

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