26 September 2011

Common ancestry, bottlenecks, and human evolution

Human evolution has been in the news quite a lot recently.
  • New genetic data suggest that ancient humans included both Neanderthals and Denisovans, which colonized different parts of the world but subsequently interbred with so-called modern humans and left telltale traces of this history in the genomes of living humans.
  • New analysis of current genetic diversity suggests that human population size underwent interesting fluctuations throughout the history of our species, but concludes that the population never dipped below a few thousand reproducing individuals.
Unsurprisingly, these findings have been discussed in the context of Christian views of human origins. In the context of some of these discussions (among Catholics, for example), I have noticed some confusion regarding the implications of common ancestry. I will illustrate the error with a stylized example, then explain why it is an error.

Consider an important and human-specific genetic feature. For example, consider the human-specific version of the FoxP2 gene. This gene is thought to play an important role in human speech, and the data indicate that the gene was mutated at some point to create the human version, since the gene itself is not specific to humans. In other words, at a key juncture in human evolution, the human-specific FoxP2 gene form came to be.

Since that time, that gene form became the only gene form in humans. There might have been more than one occurrence of the mutation, but it can't be that the mutation is terribly common, since it isn't found in any other mammal or in other primates. Therefore, the existence of the human-specific FoxP2 gene is overwhelming evidence that all humans (past and present) trace their ancestry through one or just a few ancestors who first acquired the mutation.
So far, so good.
Now, if we all trace our ancestry to just one or two ancestors, then it must be that the human population must have gone far below a few thousand. It must be that the human population declined to near zero, and specifically it must have declined to the number of those common ancestors. That's the only way that all humans could currently have that genetic mutation.
That's completely wrong. It might make sense superficially, but it's wrong, and some careful thinking about how inheritance works should make that obvious.

Let's assume that the mutation provided some advantage to the first animals who bore it. In fact, let's assume that the benefit was huge. And let's assume that it occurred in a small population of 100 individuals. (In reality, those are probably unrealistic assumptions; mutations rarely confer an instantaneously huge benefit, and the human population isn't thought to have gone as low as 100.) The outcome of such a scenario is this: the next generation will include more individuals bearing the mutation. Considering human reproduction rates, let's say that the next generation includes 5 of those individuals, and let's allow those individuals to interbreed. The generation following that one would include, say, 15 individuals (3 females with 5 kids each). And the following generation might include 40-ish, and so on. Soon, every member of the population would have the mutation, and every one of those individuals and all of their descendants would share ancestry with the first animal with the mutation. But the population never shrank; in fact, it could have grown during the process and the march of the mutation would have occurred just fine.

This is almost certainly what occurred hundreds or thousands of times in the evolution of our species, and the result is that we have hundreds or thousands of human-specific features that we all inherited from one or a few common ancestors. That fact alone does not mean that our entire population ever contracted to include only those common ancestors.

Evidence for common ancestry is not evidence for genetic bottlenecking. Think about it.

10 comments:

Anonymous said...

testing

Bilbo said...

Hi Steve,

How is it that we know that the human population never dipped below a few thousand? 

SteveMatheson said...

Well, I don't say that we "know" this. Human population history was inferred from patterns of genetic variation in different human subpopulations. The model in the paper I link above makes assumptions about generation time (25 years) and neutral mutation rate, then infers genetic diversity at different times in the past. I don't think the authors of that paper would say that we "know" human population history, but I do think they would say that current human genomic structure, considered globally, gives no indication of a severe bottleneck.

Does that answer your question?

Bilbo said...

 Since the question of whether our human population began with only two people, or with several thousand people, may have serious theological implications, then I think it is incumbent upon scientists to make plain whether or not they really do know which it was.  Don't you think so?

SteveMatheson said...

No, I don't believe scientists should consider the 2-people founder hypothesis merely because a particular subset of a particular religion wants that hypothesis to be true. Nor do I believe that scientists should ignore or oppose the hypothesis for that reason.

It is my view that the 2-people founder hypothesis has zero explanatory power and could only be true by virtue of currently unexplainable and unanticipated phenomena. So, in my view, the only reason to consider such a view is a commitment to a disputed religious account of human history, an account that fails to explain not only genomic data, but also paleontological findings. (Not to mention geological evidence, if the flood of Noah is similarly considered as part of the historical narrative.)

In other words, I do think science "knows" that the 2-person founder hypothesis is wrong, to the extent that the hypothesis cannot account for the data at hand without making gratuitous assumptions regarding unexplainable mechanisms.The scientists who wrote the paper in question used the word "infer" in the title of their report. They didn't claim to "know" the population sizes. If your point is that some scientists seem to blur the distinction between what we can say we "know" and what we have inferred, I get it, but I think it's a mistake to ask science to privilege certain accounts or hypotheses without explaining why those accounts deserve strong consideration.

Bilbo said...

I'm not asking scientists to privilege certain accounts of natural history.  I'm asking how do we know that the 2-person account is incorrect, or doesn't fit the evidence, or doesn't explain the evidence, or h0wever you prefer to phrase it.  

SteveMatheson said...

I do think the phrasing of your questions suggest that scientists ought to take the 2-person account seriously, and I'm suggesting to you that they may not have any reason to do so.

As to how population sizes are inferred, the abstract of the Nature paper (linked above) gives you some indication of what the authors did. Or you can read Jerry Coyne's summary.

Bilbo said...

Steve, my original question was: "How is it that we know that the human population never dipped below a few thousand?"  Your original answer was that we don't know.  Based on that answer, I pointed out that since there may be serious theological implications to the question, scientists should say they don't know.  Now you say that we do know.  I suggest that you make up your mind.  Meanwhile, thanks for the link to Coyne's summary. 

SteveMatheson said...

Weird. I don't remember writing that, and sure don't see it in any of my comments. I think I was clear enough. Thanks for the comments.

Bilbo said...

You wrote: " Well, I don't say that we "know" this.... I don't think the
authors of that paper would say that we "know" human population history...."

Then you wrote:  " I do think science "knows" that the 2-person founder hypothesis is wrong...."

If you still don't see it in your comments, I suggest you get your eyes examined.