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Friday, September 09, 2005

ASPM and Microcephalin

Many people have been asking me about these new papers in Science that demonstrate selection for some specific alleles involved in human brain development—I let it slide since John Hawks has already covered them. I think the papers are convincing: there have been recent patterns of selection for brain associated alleles in the last 5 or 6 thousand years for ASPM, and within 30-40 thousand years for another gene, called microcephalin. This isn't surprising at all—we expect that there are ongoing changes in the gene pool of all species; it's not as if we're exempt. It's also not surprising that they found brain-related genes that exhibit this pattern, because that's what the study was specifically designed to find. I'm sure that if they'd focused on pancreatic genes, they'd find similar patterns of unequal distribution and evidence of selection.

The important news is that people are evolving. This is another example of evidence in support of that contention, unexceptional except perhaps to creationists.

Unfortunately, one other aspect of this observation has also been brought up at Universal Acid and Foreign Dispatches: because the brain is so central to who we are, and because the distribution shows a low frequency of the selected alleles in sub-Saharan Africa, we can expect to see it seized upon by racists as supporting their claims. It doesn't, of course, no more than does the richer genetic diversity in African populations support the 'superiority' of Africans. It's a difference in a few components of a complex assemblage—and the operative word is 'different', not 'better'. The study is not dividing the world into people who have the gene, and those who don't. All of the subjects had fully functioning copies of the gene, with only subtle variations in its structure, variations that have effects that have not been determined.

The principal investigator of the study, Bruce Lahn, is very clear on avoiding premature conclusions about using this to evaluate ethnic groups.

Lahn emphasized that it would not be correct to interpret the findings as indicating that one ethnic group is more "evolved" than another. Any differences among groups would be minor compared to the large differences in such traits as intelligence within those groups, he said. "We're talking about the average impact of such variants," he said. "We still have to treat each individual as an individual. Just because you have one gene that makes you more likely to be a little taller, doesn't mean you will be tall, given the complex effect of all your other genes and of environment." Lahn also said that a multitude of other genes likely exist that influence brain size and development, and further research could reveal far more complex effects of natural selection on such genes.


Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, Tishkoff SA, Hudson RR, and Lahn BT (2005) Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans. Science 309(5741):1717-1720.

Mekel-Bobrov N, Gilbert SL, Evans PD, Vallender EJ, Anderson JR, Hudson RR, Tishkoff SA, and Lahn BT (2005) Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens. Science 309(5741):1720-1722.


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Comments:
#39408: — 09/09  at  09:38 AM
I agree with you and Lahn about the need to stress that this study has nothing to do with ethnicity. BUT, doesn't this indicate that further work could be done to zero in on exactly why ID proponents are sadly lacking in vital areas? Doesn't this study lead credence to my long-held theory that IDists have NO clue? In my opinion, the Genes Say Yes! Will this study finally give us the answer
to explain why IDists have been unfairly handicapped by evolution and lack both the Common Sense Gene and the Reality Gene?



#39409: Ron Sullivan — 09/09  at  09:40 AM
"Microcephalin"??

Oh, this is too easy. I'll wait for coprocephalin and rectocephalin. I wonder if those will turn out to be evenly distributed across populations, and/or if there's a statistically strong association with, oh, say, ASS-O (the "troll gene") or INRI, which in the presence of certain dietary deficiencies presents as incurable godbaggery.



#39410: Alon Levy — 09/09  at  09:43 AM
Don't worry, PZ - you can count on the racists to say that these explanations that these studies have nothing to do with genetic superiority are simply rationalizations of people who don't want to admit that blacks are an inferior race. The fact that the evidence doesn't suggest any sort of African inferiority is irrelevant here; it's purely a matter of form, with substance not even being in the background.



#39412: Matt Dunn — 09/09  at  09:55 AM
I just read the microcephalin article quickly, and I have to say that I'm fairly skeptical. Firstly, this is a fairly unorthodox approach to establishing that some trait is the result of natural selection. Typically, one establishes that the trait confers an increase in fitness, i.e. reproductive success. This study hasn't even attempted to do this. Secondly, if one were to ignore the fact that they have little idea of the function of the derived allele and it's effect on fitness, if one were to accept their population genetic approach, some of the assumptions in their model seem to be particularly problematic. Sample size of 89 as representative of the larger human population? Why didn't they run their analysis on the larger global sample of over 1000? What types of assumptions entered into their analysis? It seems, at least on first glance, that the frequency data from the global sample may not support their interpretation?? Yet instead of note this possibility, they attempt to explain this discrepancy in terms of place of origin of the allele. However, they do note that it may be the result of a bottleneck during the migration out of Africa? How is this compatible with their far smaller sample where they claim that drift cannot explain the frequency distribution? Also, I'm very unclear how they infer the ancestral condition? Did they attempt to do that at all or did they assume that if the new allele arose in a population of 89 individuals fixed for the ancestral allele within some amount of time, that it is impossible for that allele to increase in frequency in the population to the currently observed frequency under drift? Anyway, sorry about the rant, but I'm a little concerned with this study. It might just be my lack of knowledge concerning these particular methods of inference, but some of this stuff just rubs me the wrong way, especially when the study is about HUMAN evolution, a subject where we have to be fairly cautious because people are prone to draw normative conclusions from such scientific data.



's avatar #39413: PZ Myers — 09/09  at  10:01 AM
Well, I think frequency distributions of specific haplotypes is a perfectly legitimate way to assess the effects of natural selection. You are right, though...there is no evidence given for a selective advantage to any specific trait. It's indirect.

PZ Myers
Division of Science and Math
University of Minnesota, Morris



#39415: dr. dave — 09/09  at  10:52 AM
Help the stupid physicist...

Just because there is a change in frequency of this or that gene over time, is it really proper to say that humans are "evolving"? Because what I have trouble seeing is how there is any "selection" going on with humans. (And if not... aren't the only reasons economic and political rather than genetic?) Doesn't everybody live long enough to have 2 healthly kids if they want to? With no differential survival of offspring... how is there any evolution? Am I being to literally "Darwinist"?



#39417: dr. dave — 09/09  at  10:54 AM
Heh... here's the same question without two sentences confusingly transposed!

Just because there is a change in frequency of this or that gene over time, is it really proper to say that humans are "evolving"? Because what I have trouble seeing is how there is any "selection" going on with humans. Doesn't everybody live long enough to have 2 healthly kids if they want to? (And if not... aren't the only reasons economic and political rather than genetic?) With no differential survival of offspring... how is there any evolution? Am I being to literally "Darwinist"?



#39418: dr. dave — 09/09  at  10:56 AM
Ok. Now that I read what you said again, you are using the present tense "are evolving" to mean 5000 years ago. I need to stop reading technical posts while "Sesame Street" is on in the background.

So... never mind.



's avatar #39419: PZ Myers — 09/09  at  11:00 AM
No, not quite right yet. Evolution in these genes is ongoing -- they traced it back 5,000 years, but it doesn't mean it isn't occurring now (or even that it may have accelerated or reversed now).

Any change in allele frequency is an example of evolution. We have lots of those going on all the time. What this paper is showing is that one particular set of alleles has a greater frequency in many populations than we'd expect by chance, and has therefore most likely been promoted by selection for it.

PZ Myers
Division of Science and Math
University of Minnesota, Morris



#39433: — 09/09  at  12:41 PM
Did the authors comment on how it felt to put the bullet in the head of evolutionary psychology? You know, the discipline that says we misbehave so much because our brains were adapted to the world 10,000 years ago.

Kudos to them!



#39439: — 09/09  at  01:06 PM
Have you seen Andrew "Promoting The Bell Curve was Brave!" Sullivan's post on this yet?

"Bad news for liberals: at the rate research is going, you will soon have to choose between believing in evolution and denying any subtle, genetic differences between broad racial groups."

Disgusting.



#39443: Arun — 09/09  at  01:25 PM
An interesting event that happened perhaps 5000 - 4000 years ago, is the hypothetical dispersion of the people who spoke the hypothetical language that is reconstructed as Proto-Indo-European. Does the recent ASPM allele help trace this dispersal?

Also - we don't know ASPM's function yet. But suppose what this ASPM allele does is confer resistance against mosquito-borne encephalitis? Or suppose it confers resilience during fetal neural development against weed toxins in grain crops? Or suppose it confers on average plus 5 IQ points? Can we a priori rule some out because these do not provide strong enough selection pressure for an allele that arose 5.8K years ago?



#39444: Arun — 09/09  at  01:29 PM
One more thing - I recall a paper by Bamshad, et. al., on human genetics in India. Turns out what they called "East European" in their paper was anyone west of the Indus. So, e.g, West-enough Pakistanis would count as "East European", while Punjabis east of the Indus would be counted as "Indian".
So, sometimes, the ethnic classifications make me dubious.



#39446: Arun — 09/09  at  01:43 PM
Some ASPM stuff on the web:
http://www.genetics.org/cgi/content/full/165/4/2063



#39452: — 09/09  at  02:43 PM
An interesting event that happened perhaps 5000 - 4000 years ago, is the hypothetical dispersion of the people who spoke the hypothetical language that is reconstructed as Proto-Indo-European. Does the recent ASPM allele help trace this dispersal?

I'd be a tad surprised if it did -- it seems clear that Indo-European did not spread simply by having its speakers shooting out all over Europe and west Asia, but that just as important in the spread (if not more so) was populations previously speaking unrelated languages switching, and starting to speak Indo-European languages (as is still happening to this day). Larger genetic groupings and larger language groupings seldom line up.



#39480: Arun — 09/09  at  08:28 PM
Well, George Cauldron, depends on what theory one believes in. I say "believe in" because the evidence is sparse. E.g., if we go with Colin Renfrew's theory, then Indo-European languages spread along with agriculture, and basically became dominant via the accompanying population explosion.



#39481: Arun — 09/09  at  08:33 PM
"Bad news for liberals: at the rate research is going, you will soon have to choose between believing in evolution and denying any subtle, genetic differences between broad racial groups."


No, I think the liberal position and perhaps the scientific position is that non-subtle genetic differences, e.g., those that govern skin color, are mostly irrelevant to the qualities that interest The Bell Curve crowd, and the subtle genetic differences are subtle enough that we don't know yet whether these subtle differences are significant. The non-scientific, The Bell Curve crowed seems to have the axiom that any genetic difference is significant.



#39490: Matt McIrvin — 09/09  at  09:58 PM
Dr. Dave, lots of people don't survive for biological reasons: there's differential resistance to disease, for instance. Even in rich countries, people sometimes die young from infectious diseases. My understanding is that the human immune system is one of the parts that evolves the fastest.

And sexual selection is almost certainly going full tilt. In the West, most people survive long enough to have two kids if they want to, but that doesn't mean they will actually manage to do that (or want to, though it's hard to say how much of wanting to is genetic).



#39491: Matt McIrvin — 09/09  at  10:03 PM
...On the other hand, it's important not to fall into the early-20th-century eugenics trap of fretting about dumb people having more babies than smart people. People seem to rediscover this worry in every generation (often with a barely-disguised racist angle), but there's no evidence that human intelligence is actually suffering from being selected against. (I'd guess that, if anything, it's probably selected for, when one factors in the likelihood of having any babies at all.)



#39492: — 09/09  at  10:31 PM
My all time favorite is still the "Buddy Christ" from the movie 'Dogma'.



#39494: — 09/09  at  10:33 PM
Excuse by confusion, by previous post was entended for the "Jesus of the week" post.



#39497: Alon Levy — 09/10  at  04:45 AM
Arun: PIE was long extinct 5,000 years ago. From what I've read about it, the standard figure for its dispersal is 7,000 years ago, with 6,000 being the latest possible number. As for how it spread, the theory I've read about says it's because the domestication of the horse.



#39502: Arun — 09/10  at  07:11 AM
Well the ASPM allele originated between 14000 and 6000 years ago, so one has a lot of time depth in which to play. Yes, the domestication of the horse is commonly taken to be the event causing spread of the IE language family, but the horse was not domesticated 7000 or even 6000 years ago.



#39521: — 09/10  at  01:54 PM
It's also not surprising that they found brain-related genes that exhibit this pattern, because that's what the study was specifically designed to find.


Has anyone read something recently like "kidneys evolved more than the brain", maybe livers rather than kidneys... I was totally sure that I've read a readline like this, but I've searched and actually asked by this in the forum I thought it was posted. I also seached in other sites that probably were the source. It's letting me crazy. The worst thing is that I think it makes some sense!



#39542: — 09/10  at  07:01 PM
Well, George Cauldron, depends on what theory one believes in. I say "believe in" because the evidence is sparse. E.g., if we go with Colin Renfrew's theory, then Indo-European languages spread along with agriculture, and basically became dominant via the accompanying population explosion.

Indeed, the evidence is sparse, judging by the lack of consensus among linguists that persists to this day. But this wouldn't disprove my albeit-minor point, since not all Europeans speaking Indo-European are directly descended from ancient Indo-Europeans. Nor are all the folks in, say, north India speaking Indo-European directly descended from ancient Indo-Europeans. Europe was not empty prior to Indo-European, and it's clear that almost everyone in Europe prior to the Indo-Europeans (except the Basques) switched to speaking something Indo-European. A spread of either agriculture or of horses could have triggered this.
There's even some linguistic evidence that some whole subfamilies of Indo-European, like Germanic, are entirely the result of ancient European who didn't speak Indo-European, who switched to speaking IE, and who didn't do it very well.



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