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Health

Mendelism is not magic

Gene ExpressionBy Razib KhanJanuary 16, 2012 12:23 PM

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Michelle points me to this article in The Lost Angeles Times, The Colors of the Family:

I was holding my 1-year-old, ambling about downtown with some friends. White friends. She must have thought my boy belonged to one of them. There's a simple explanation: I'm black but my son, Ashe, is white. At least he looks it. But things are more complicated than that. I'm actually half black and half white. It should come as no surprise, though, that even as sophisticated as we've become about people of mixed parentage, I'm pigeonholed as black. If someone asks and I don't have time to go deeper, that's what I call myself. Ashe is mixed too. His mother, my wife, Vanashree, is half white and half South Asian, with roots in India. She has olive skin, and Ashe is slightly lighter than she is. This surprised us. When Ashe was born, one of the first things I said to Vanashree was, "Honey, he's so light!" We chuckled, poking fun at our assumptions.*

Let's get the sociological aspect out of the way.

Is this really that surprising?

Folk-biology has always had the concept of a "throwback," which really distills the reality of Mendelian inheritance (as opposed to simple blending processes). In societies such as Brazil or India where there is a fair amount of segregation of polymorphisms which control skin color it isn't that unheard of for a child to be darker or lighter in tone than both parents. And more frankly, this is not unknown within the African American community, where there is a range of skin tone due to ~20% European admixture. I suspect many African American would have these "assumptions," because of an intuitive understanding of the unpredictable nature of the inheritance of this trait. Second, the author of the piece is half black and half white in social terms, but there is no chance he is 50 percent African in ancestry. Barack H. Obama is 50 percent African in ancestry, but African Americans almost always have some admixture. I've analyzed ~150 African Americans in terms of their ancestry, and they always have some European ancestry. In fact the few Africans in my data set jump out because they lack this component. In other words, the author's child is somewhat more than 50 percent European in ancestry. Finally, what's the science behind this? This isn't that hard to actually understand, because the genetic architecture of pigmentation has been well elucidated. Only a few genes control most of the variation across populations (the difference we see between Africans and Europeans, South Asians and East Asians). Because we know the parents' ancestry we can make a few educated guess.es The largest effect size upon of a gene pigmentation in a given individual is probably from SLC24A5. The father is likely a heterozygote on this at the SNP in question, with a "light" European copy, and a "dark" African one. The mother is most likely, though not inevitably, a homozygote; the frequency of the "light" copy is well north of 50 percent in South Asians (I'm a homozygote, as are both my parents). So the child has a 50 percent chance of being a heterozygote or a "light" homozygote. That's some of the answer right there. Because the child does not have blue eyes we know that they are unlikely to be homozygote for the combination of markers which is correlated with blue eyes (probably due to a regulator element on the HERC2 locus). This is also associated with lighter complexion and hair color. But there is another locus which I think would be especially important: SLC45A2. There is a "light" variant here which is highly localized to Europeans. Its frequency is 95 percent in Northern Europe, and 15 percent in Northern India (85 percent in Northern Italy, 65 percent in Turkey, etc.). It is not found in East Asia or Africa, except in cases of clear admixture with Europeans. Europeans who are homozygote for the "dark" variant tend to be olive skinned (this genotype is relatively rare, though not unheard of in Southern Europe as per the frequencies above). Both the parents in this case would almost certainly be heterozygotes. This means that their son had a 25 percent chance of exhibiting the Northern European genotype. That is a straightforward explanation for why he might be lighter than either parent. Of course there are a few other genes of some importance, but I suspect that SLC45A2 is where most of the work is done in this case because of the backgrounds of the parents (i.e., I'm pretty sure they're heterozygotes). I understand that the point of the article was not the genomics of pigmentation. But to talk about social matters it sometimes pays to get the science nailed down. Like it or not this is a time in the United States where people of mixed ancestry are going to be more common. I rarely get the "Where are you from?" question anymore (because I'm not black or white), but I wonder if the "What are you?" (asked of mixed-race individuals) is going to persist a little longer. * I think lurking within the subtext of the article is the salience of African ancestry, and the idea that it is particularly potent. The author's wife's background is mentioned almost in passing, before moving back to the main attraction of the child of an African American no longer appearing visibly African American. Many of the ideas of white nationalist thinkers such as Madison Grant may no longer be in vogue, but their idea that African ancestry was particular powerful in swamping out all other ancestry remains an unspoken assumption in American society.

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