Sometimes science is just too cool! A Melanocortin 1 Receptor Allele Suggests Varying Pigmentation Among Neanderthals:

The melanocortin 1 receptor (MC1R) regulates pigmentation in humans and other vertebrates. Variants of MC1R with reduced function are associated with pale skin color and red hair in humans primarily of European origin. We amplified and sequenced a fragment of the MC1R gene (mc1r) from two Neanderthal remains. Both specimens have a mutation not found in ~3700 modern humans. Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans. The impaired activity of this variant suggests that Neanderthals varied in pigmentation levels, potentially to the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.

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The former Miss Singapore, Cheryl Marie Cordeiro, now domiciled in Sweden, takes a crack at analyzing the Watson Affair. She’s clearly not a reactionary in that she tries to understand what Watson was saying and she goes to some effort to look at background information but along the way she falls into many of the expected traps that await those who rely on inaccurate information, to wit:

So, why do we need to assume that Watson is wrong if he says that “all testing shows that Blacks or Africans indicate that they are less intelligent”? Aren’t we missing the small detail of how and by whom these tests were made? IQ tests, though widely accepted as a standard indicator of how “intelligent” an individual is, still comes with a white / western / male bias, because that is from where the tests originated. I don’t think we need to doubt that white, western male scientists whose socio-cultural, historical and political backgrounds are different from those of the Africans or Black Americans. So, while these IQ tests cannot be “universal”, they are often referred to as if they were.

PS: – If you have time to kill and wish to see the amazing Ms. Cordeiro model her outfit of the day, then spend some time exploring her blog and marvel at the limitless wardrobe she’s accumulated.

Actually I don’t know, but there’s some evidence that extinct Neandertals were red heads!

Back when this blog was young and its was age measured in months, not years, “godless capitalist” (gc) would debate Paul Orwin and Charles Murtaugh, especially on the issue of QTLs which affect normal variation in IQ. When gc made the case for possible genetic engineering of one’s offspring to have higher IQs Murtaugh was aghast. His basic logic seemed to be that the QTLs which contribute to normal variation in IQ are of small effect, so there are many, and who knows what sorts of problems might be caused by “switching” dozens of genes from state A to B? Genes are often of course pleiotropic, and Murtaugh’s assumption seemed to be that changing the genetic architecture in such a profound way might not be a good thing in the genetic background of the typical human. We’re a species with a very high rate of spontaneous abortion, perhaps as much as 3/4 of fertilizations do not come to term. Much of this is likely due to chromosomal abnormalities, but there are likely other factors as well, so let’s take Murtaugh’s objection seriously for a minute.

What sort of superior child do most parents which frank eugenic inclinations want? Wouldn’t you want your son to be both tall and extremely intelligent? For example, a male who is 1 standard deviation taller than the norm and 2 standard deviations more intelligent would be at a relatively advantage in life. But the chances of having a tall Mensa level IQ son is not high for most humans, and even if you assume some dependence of the deviation of one trait conditioned upon other, that dependence is likely still relatively weak. Finally, both of these are quantitative traits where the average effect from a given gene seems small in their contribution to normal human variation. The right flavor of HMGA2 gives you 1 extra centimeter, but that really isn’t that much, and this is likely a QTL of very large effect for this trait (height). For intelligence the prospects may even be weaker. To engineer a very tall and intelligent son if you are of normal intelligence & height (the typical future consumers) would require alterations on many loci, and this is where Murtaugh might pipe up with cautionary tales.

But then I thought of something: there are other traits where most of the variation seems associated with a few loci of large effect. Europeans’ light skin is in large part due to SLC24A5, SLC45A2, TYR and OCA2. 4-6 loci probably account for around 90% of the variation. What about eye color? OCA2 is responsible for 3/4 of the variation, with TYR rounding out much of the balance. Skin color, eye color, even hair color; these are gross outward phenotypes controlled by a few loci of large effect! The loci are of such large effect I think that South Asian couples of middle complexion who want lighter skinned offspring can now feasibly engage in selective abortions to “load the die” so that their offspring are the “optimal” combination of their genes. We have the information and the technology. Then I began thinking, do people really care about total genome content in relation to their offspring? We’ve floated the possibility of switching a few hundred loci to shift the expected phenotypic value in the offspring, but the Murtaugh objection looms in the background. But we already have genetic backgrounds which have been “field tested” for viability and health in highly intelligent people. Why not just use them and fiddle around with the loci which control superficial physical appearance!

What I’m saying here is that instead of taking the genetic material from one’s own biological offspring and fiddling with hundreds of loci to shift the quantitative value of traits of interest such as height and IQ, why not create a clone of a tall and very intelligent person, and switch a few dozen loci so as to sculpt that individual so that it can pass as your natural offspring? Imagine that a Japanese couple hosts a tall Swedish exchange student who is both a stellar scholar and athlete, and is moderately tall to boot. Additionally, this individual has a very agreeable personality. The son they always wanted! Perhaps they can get that son. They could clone the student, and then make changes to complexion, hair form, eye color, nasal form and include in Asian traits such as the epicanthic fold. Eye color, hair color and skin color are known to some degree now, perhaps a dozen genes could do most of the trick. But what about nasal form? I don’t honestly know. Epicanthic fold? Again, I don’t know. I suspect that some of these traits are subject to QTLs of larger effect than height or intelligence. One would have to do the cost vs. benefit.

Now, some of you might ask, “but why would people want to have offspring who are predominantly not descended from them?” Perhaps that is an issue for many or most people. Honestly though, I think if you could make a child resemble the midpoint of both parental phenotypes in terms of complexion and facial features the intellectual (conscious) knowledge would quickly be overruled by the reflexive (proximate) cognitive processes which would identify the physical resemblance and induce the normal emotional response (the main objection is that I do think that personality ticks are highly heritable, so perhaps some parents would start to treat their offspring as incongruous impostures who exhibit the right look, but with strange mannerisms). This goes to human psychology, it is a complicated area and there is some evidence that humans exhibit essentialisms which may transcend morphology. That being said, in this case I believe not all loci are created equal. If the “important” loci (those which contribute to visual parent-child resemblance) are identical by descent & state from the putative parents I think that many would enter into the tradeoff of alien genome content for the sake of building a “better baby.”

Anyway, just a thought I had on the way to the Post Office (I’m not shitting you!).

Note: Even if the Murtaugh objection does not hold, it might be cheaper to do what I’m talking about. I don’t really take the objection that much to heart, humans mix & match genes across genetic backgrounds all the time when we mate. The key would be to get the exogenous material in early during development so any problems would lead to a spontaneous abortion. Obviously playing with the genetic architecture after the child had been delivered might be more problematic. Also, though purchasing the rights to someone’s genome for your offspring might be expense, I don’t see how it would be that much more expensive than eggs purchased for fertility clinics are today. Of course, the types of parents I’m talking about are probably going to be in line for androids too. Let your imagination fly.

Nature has weighed in on the Watson imbroglio with a ponderously written editorial, accusing him of “lending succor and comfort to racists around the globe”. It concludes:

Many human geneticists are engaged in the sensitive task of unravelling differences between the world’s population groups, all the while acknowledging that ‘race’ is an emotive and unscientific word. Others are investigating the equally sensitive genetics of ‘desirable’ traits, such as cognitive ability.

Asking such questions has always been controversial, given the potential for abuse of the outcomes demonstrated by the history of eugenics. Scientists explore the world as it is, rather than as they would like it to be. There will be important debates in the future as we gain a fuller understanding of the influence of genetics on human attributes and behaviour. Crass comments by Nobel laureates undermine our very ability to debate such issues, and thus damage science itself.

Now, it’s well-known that Watson is an asshole, and frankly I can’t say I really care about the “punishments” he’s getting (if he really said, as he is quoted, that his conclusions should be obvious to anyone that has worked with black employees, then, well, I can see how an organization with black employees might not want him around so much). I’m not too worried about the guy’s prospects; he’s no martyr.

That said, he’s brought to the attention of a larger crowd the “uncomfortable facts” that human geneticists are starting to face–populations differ genetically, and those genetic differences actually matter phenotypically. In the internets, Larry Moran is asking about the genetic component of intelligence, and the commenters over at Half Sigma have been having a field day looking through publicly available resources at the population distributions of alleles thought to be involved in IQ.

I don’t know how much any of this trickles up to the world at large, but if it does at all, and it accelerates the coming of the day when people can quit feeling awkward about the implications of genetic research and start saying forcefully that political equality is not dependent on biological identity, then ultimately this could be a good thing. So has James Watson damaged science itself? Hopefully, quite the contrary!

I’ve mentioned the emergence of the dog as a model organism in genetics– the resources available now have made all sorts of questions easy (well, not easy, but comparatively easy) to answer. One such question: what makes certain breeds of dog black? The answer is now available online at Science: a small deletion in a gene called CDB103.

The gene is interesting because it encodes a novel ligand for MC1R, mutations in which cause red hair in humans (and lighter fur in mammoths). The melanocortin pathway seems to be polymorphic in all mammals studied, perhaps due to similar selective pressures on coat/hair color.

The authors have a neat picture of mice they turned black by inserting copies of the variant allele, which raises the question: can any dog breed be turned black? And if so, how much will people pay for it?

Four Stone Hearth #26.

Four Stone Hearth #26.

I recently came across the term ‘genophilia‘, meaning something like ‘instinctive attachment to family and tribe’. It appears to be quite a buzz-word among the usual suspects.

I was interested to see that the origin of the term was ascribed to Francis Galton. I am reasonably familiar with Galton’s works, but I did not recall him using this term. I therefore set out to find if he really invented it. To cut a long story short, he didn’t. For the long story, see below the fold.

On searching the internet for ‘genophilia’ I came across a Wiktionary entry for that term, which states (as of 24 October 2007), that the term was ‘apparently coined by Sir Francis Galton’, and contains the following alleged quotation:

1883: We would include among our standards of eugenic value sound physical health and good physique, intelligence, and moral qualities which make for social cohesion. The latter would comprise courage (but not aggressiveness), serenity or contentment, and cooperativeness. We would also here include the quality described above as genophilia (love of children). – Sir Francis Galton, Inquiries into Human Faculty and Development (Macmillan 1883)

I have been unable to find this passage in Galton’s ‘Inquiries into Human Faculty and its [sic] Development’ or any other of Galton’s works. The substance and style of the passage are vaguely Galtonian, but there are three points of difficulty:

– it is unlikely that Galton would use the word ‘serenity’ in this way

– Galton usually referred to ‘ability’ rather than ‘intelligence’

– Galton usually put much emphasis on ‘energy’ as a desirable quality, but energy is not mentioned in this passage.

Galton’s own best-known listing of desirable eugenic qualities is ‘health, energy, ability, manliness and courteous disposition’ (Essays on Eugenics, 1909, p.37).

Having failed to find the passage in Galton’s works I searched the internet again, and was rewarded by finding a reference here to a use of the term ‘genophilia’ by C. P. Blacker, a mid-20th century British eugenic writer, in his book ‘Eugenics: Galton and After’ (Gerald Duckworth & Co., London, 1952). To confirm this I tracked down a library copy. The book’s Index has references to ‘genophilia’ on pages 284 and 289. I find that the passage quoted in the Wiktionary entry is on page 289 of Blacker’s book. It is clearly expressing Blacker’s own views, and is not a quotation from Galton. I can only speculate that someone along the line has seen the quotation in conjunction with Blacker’s title, which includes Galton’s name, and jumped to the wrong conclusion. It did cross my mind to wonder whether the misattribution was a deliberate attempt to give the term a longer and more distinguished pedigree, but it is more likely to be a careless misreading of some secondary source.

Blacker himself does not claim to have invented the term ‘genophilia’. On page 284 he refers to ‘genophilic instincts’ and in a footnote says: ‘The word “genophilia” is used by Dr. A. Spencer Patterson to denote the sentiments conveyed by the term philoprogenitiveness plus something more concrete in the shape of fondness of and delight in children’.

I do not know anything about Dr. A. Spencer Patterson and do not intend to pursue the origin of the term any further. I could not find Patterson’s name in the online British Library Catalogue. It should be noted that the original meaning of the term, as used by Blacker and apparently also Patterson, has little to do with ‘instinctive attachment to family and tribe’.

I have asked the Wiktionary administrators to amend the entry. It will be interesting to see how long it takes. I will also be interested to see whether the false attribution continues to be used elsewhere. I’m not holding my breath.

If you like the science on this weblog, I highly recommend Laelaps, Brian Switek’s contribution to the ScienceBlogs network. Where I am more micro and anthro oriented he is more macro and spans the whole tree of life. I’m really glad he’s on ScienceBlogs; Laelaps adds to the diversity in an interesting way.
In any case, I wanted to point to this long post, Troodon sapiens?: Thoughts on the “Dinosauroid”, it mulls over many concepts and evolutionary processes. Brian highlights the alternative views of the paleontologists Stephen Jay Gould and Simon Conway Morris. While Gould emphasized historical contingency and overall stochasticity of evolutionary process, Morris tends to lean toward the power of selection generating convergent adaptations. Some have suggested that Morris’ views are influenced by his Christianity. Brian does note that this tendency toward teleology has correspondences with the talking points of the Intelligent Design movement, but I think it is important to observe that Richard Dawkins has come down on the side of Morris and against Stephen Jay Gould on this question. So the alignments here can be rather confusing to an outsider (some critics of adaptationism argue that the Oxford school of evolutionary biology, of which Dawkins is a representative, owes a great deal to William Paley’s arguments from design, simply substituting the theistic god for the blind engineer of selection).
On a philosophical note, I do think these arguments about contingency and inevitability have to framed within the context of time and space. Assuming enough evolutionary time and a large enough effective population size it is imaginable that contingency and constraint can eventually be circumvented as selection slowly explores every nook and cranny of the adaptive landscape. But of course that is assuming particular parameters; over shorter time periods stochastic forces can be critical in explaining the madness. What is a large effective population? And what is a long time period? There are assumptions often unspecified in these debates between those who argue for contingency and those who argue for inevitability, and I think quite often that results in talking past one another.