Copy number variation in genes

By Razib Khan | November 23, 2006 12:16 pm

A new paper in Nature, Global variation in copy number in the human genome, suggests that it isn’t just SNPs that matter in regards to human variation. Those of you who are “in the know” aren’t surprised, so this press release is a bit much. Along with a focus on gene regulation, this is a fascinating new area which expands our understanding of how we are how we are beyond the raw sequence. p-etr at my other blog has a lot more. RPM has a post scheduled on this topic, I saw a preview when he published it to make sure it looked right. The press is making a big deal out of this, so we’ll see where it goes….
Addendum: Why does gene copy number matter? The most obvious way is that more gene is proportional to more transcription which results in more translation which results in more final protein end product. Sometimes this is good, sometimes it is not so good, and sometimes it doesn’t matter. Genetics and Health has much more. And here’s an article in The New Scientist and another in The TImes.
Exod 23:13 And in all things that I have said unto you be circumspect: and make no mention of the name of other gods, neither let it be heard out of thy mouth.

  • Tangram Abacus

    It seems that less and less DNA really matters when you think of genetic variation, epigenetics and alternative splicing…

  • p-ter

    It seems that less and less DNA really matters when you think of genetic variation, epigenetics and alternative splicing…
    I’m not sure what that’s supposed to mean. what are genetic variants if not variations in DNA?

  • Danniel Soares

    I believe he or she did not put “genetic variation” as opposed to DNA, but instead meant that, despite of the genetic variation, “epigenetics and alternative splicing” play a considerably big role, minimizing relatively the role of minor genetic variation. I guess.


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About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at


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