Well, the latest episode of Our European Cousins has aired. Svante Paabo, who if anything knows how to play each side of the street as long as there are cameras there, has announced now that 1-4% of the modern human genome is derived by admixture with Neanderthals. In the past, he was comparably insistent in headlining that Neandertals had not admixed and were a dead lineage.
The paper reported in the news (on the BBC website, e.g.) appears in Science's new issue. Make no mistake, it's a good and important piece of work, long promised and finally arrived. It is a sequence of roughly the entire Neandertal genome compared to five available whole-genome sequences from modern humans. Getting and assembling anything close to a whole genome sequence from fragmentary bits in fossils, contaminated with DNA from other things such as bacteria in the earth where the individual fell thousands of years ago, is no easy task and Paabo's group has been one of the global leaders. Studies of ancient DNA are important because they provide direct evidence of the past, so where DNA is preserved it will remain valuable to sequence and interpret it.
One thing to note, that seems like double-think, but is not relevant to the points we want to make here, is that this Neandertal whole genome sequence is not the whole genome sequence of a Neandertal. This sequence is a composite assembled from ancient DNA extracted from three different individual Neandertals' remains. But 'the' human genome sequence online at GenBank is also a composite. Some technical issues are affected by this, but they aren't relevant here.
Whatever the details of the assembly, or whether variation among Neandertals was observed, the issue here is the origin of modern human sequences: did any of it descend directly from Neandertals, or were they an entirely separate group (or species, even) that separated from the common human stock and had no subsequent inter-breeding. That is, we today would have no descent directly from the Neandertals. Or was there some inter-group hanky-panky?
The new paper suggests that there was, but there are two major problems with that. The 1-4% are in segments that seem to have a different ancestry from the rest of the Neandertal genome, less divergent from us. The rest diverges from us by about the amount you'd expect given our joint time of separation from our common ancestry with chimpanzees.
The first problem is one we harp on regularly, the playing to the media and exaggeration of the results. In this case, the exaggeration was the definitive way the admixture issue was made melodramatic and definitive. It suggests that interbreeding was something exotic or immoral, like a human mating with a chimp, rather than what at the time would have been considered routine mate choice among individuals from neighboring groups.
They would probably have coexisted together in times when nobody moved very far, and would have differed from each other far less than, say, Africans and Europeans do today, and between whom mating is thankfully no longer a big deal in our society. In fact, the evidence reported is that this interbreeding occurred after both groups were part of the Eurasian population after its expansion out of Africa. In that sense, the groups may have diverged somewhat, and come in contact again later, and became good neighbors for a while. Whatever happened way back then involves our ancestry which is certainly interesting and worth knowing. But when the evidence is tentative so should be the claims.
But there is a second and much more important problem. It is a subtle issue, that in essence is that whether or not any direct human genetic ancestry traces back through Neanderthals basically doesn't matter related to how 'different' we are from them. In round numbers, here's why:
A copy of your genome and a copy of a chimp's (our nearest living relative) differ by about 2 to 5% in terms of DNA sequence. Two copies of the human genome today differ by about 0.1 to 2% depending on the comparison one makes.
We've been separated from our common ancestor by 7-10 million years. Corresponding to that, the paper shows that the Neandertals differ from modern humans by about 7% which is about what you'd expect given that (regardless of admixture issues) the Neandertal split happened only after about 90-95% of the time had passed since we and chimps split.
By that time, basically everybody was human, and in turn that means that overall we are essentially as similar to Neandertals as we are to each other (crudely speaking, we're 95% closer to them than to chimps). And of course the vast majority of sequence differences generally, and hence in this case, will have little if any function. If humans are virtually identical to each other then we are virtually identical to Neanderthals whether there was any inter-mixing or not.
But consider how much functionally meaningful (as opposed to evolutionary clock-meaningful) variation there is in modern humans around the world. Within our single species, there's plenty of room for differences, and they can be important. They can protect you in very important ways from the environment (as skin pigmentation does in the tropics), they can protect you from disease (as immunological differences among us do), and there is a lot of variation in behavioral abilities of all sorts. As many diseases show, even just one single DNA change can be lethal.
The point is that whatever important functional differences or similarities there were between us and Neanderthals need have nothing to do with whether there was any admixture between their populations and populations of our other direct ancestors. Natural selection will purge bad variation, favor sterling advantages, and ignore most of the rest wherever it comes from.
If there is major functional difference between us and our burly cousins, it is to be found in the relevant genes, not in the score card (or dance card) of our sequence differences. And they could have existed in them then, but not us now, even if there was inter-breeding.
This means that Dr Paabo is right to treat this as a story for publicity. Its scientific impact is far less than its human interest value. To portray the inter-mixing question as an important one about human function is to misrepresent (or misunderstand?) how genes and evolution work. But to understand that takes more than a sound byte, and of course that means not many people will be interested.
At the same time, there's nothing wrong with trying to find out, especially from direct genetic data when it's available, what we can about our closest, if dearly departed, ancestors.