It would be interesting to see study of nature vs. nurture opinions among adopted vs. non-adopted children and identical vs. fraternal twins. I'd be interested in views of Chicago Cubs moneyball genius GM Theo Epstein, whose fraternal twin is a guidance counselor.
Of course I believe in the importance of nature a bit more strongly than the average person. But our lives are still the sums of many different factors, some genetic, some nurture, some random. We also have something that feels like free will, crazy as that may sound; we are not doomed to eternally repeat the sins of our parents just because we saw them do something bad when we were three, nor are we condemned to robotically enact whatever flaws are encoded in our DNA. We are complicated.
In the first phase, I was numb: no shock, anger, disappointment—just bewilderment. It was sohard to grasp. Unimaginable. It was hard to think clearly. And yet, a tiny bit of relief. Maybe truth would yield clarity and understanding of my father’s actions. This secondary sensation was the beginning of a wholly unexpected change in my internal being.
The second phase—feeling unmoored—was by far the hardest. Who am I? From where do I come? And who is this unknown man living in my body, coursing through my veins? I would subconsciously shake my hands trying to get him out of me. And worst, with my mother and the father who raised me both deceased, would I ever find the truth, get to the answers I was seeking? When you think you understand your origins, there is no obsessive need to explore and connect; you are satisfied knowing there is an origin and your ancestors and family members can be searched and contacted whenever needed. But when that assumption is taken away, you truly are an alien.
I should note that unlike Professor Schreiber, I had very decent parents; I have nothing to be ungrateful for beyond the normal vagaries of family life.
But the sense of being alien is still there; I always feel myself floating between worlds. There’s the world I was raised in, which I know culturally and can imitate quite effortlessly, (aside from a certain striver efficiency that seems more innate); then the world I talk to on the telephone, where people make the same sort of stupid mistakes as I do, but the cultural context is missing.
The advent of the internet is easing this gab, by the way, as the younger folks in my generation and I share more online culture.
Cultural things can get a good laugh out of you–you and someone else liked the same show, or went to the same park, or enjoyed the same brand of hot dogs–while innate things can strike very deep. Finding out that your brother got in trouble for the same distinct habits that you got in trouble for, or that you see in your own children, is really something. You look at this person and realize that despite this cultural and experiential gulf between you, you understand them–and they understand you.
The fellow in the article ended up with a bunch of new relatives, which he found very rewarding. For most adoptees, contacting biological family is iffy. People who gave you up when you were an infant may not want you in their lives, may not be good people, or may just be dead. But extended family never gave you up; extended family tends not to have all of that awkward parental baggage, either. They’re just potential siblings, aunts, uncles, cousins, etc., you’ve never met, and meeting them can be quite interesting.
I find that people really focus on adoptees’ parents, so I would just like to reiterate that biological families are more than just parents. They are cousins, grandparents, aunts, uncles, siblings, etc. They are entire families. Even people whose biological parents have given them good reason to never contact them (or are dead) may want to contact the rest of their biological families.
And like the good professor, I’ve found that meeting family from very different walks of life than my own has exposed me to very different perspectives. It is interesting seeing how similar people cope with very different situations–the things that stay the same (eg, dorkiness); the things that differ (attitudes toward guns).
Like they say, it’s about half nurture, half nature, half random chance, and half what you make of it.
(Just to be clear, yes, I know that’s not how halves work.)
“Heritable” (or “heritability”) has a specific and unfortunately non-obvious definition in genetics.
The word sounds like a synonym for “inheritable,” rather like your grandmother’s collection of musical clocks. Musical clocks are inheritable; fruit, since it rots, is not very inheritable.
This is not what “heritable” means.
“Heritability,” in genetics, is a measure of the percent of phenotypic variation within a population that can be attributed to genetics.
Let me clarify that in normal speak. “Phenotype” is something you can actually see about an organism, like how tall it is or the nest it builds. “Phenotypic variation” means things like “variation in height” or “variation in nest size.”
Let’s suppose we have two varieties of corn: a giant strain and a dwarf strain. If we plant them in a 100% even field with the same nutrients, water, sunlight, etc at every point in the field, then close to 100% of the variation in the resulting corn plants is genetic (some is just random chance, of course.)
In this population, then, height is nearly 100% heritable.
Let’s repeat the experiment, but this time, we sow our corn in an irregular field. Some patches have good soil; some have bad. Some spots are too dry or too wet. Some are sunny; others shaded. Etc.
Here it gets interesting, because aside from a bit of random chance in the distribution of seeds and environmental response, in most areas of the irregular field, our “tall” corn is still taller than the “short” corn. In the shady areas, both varieties don’t get enough sun, but the tall corn still grows taller. In the nutrient-poor areas, both varieties don’t get enough nutrients, but the tall still grows taller. But when we compare all of the corn all over the field, dwarf corn grown in the best areas grows taller than giant corn grown in the worst areas.
Our analysis of the irregular field leads us to conclude that water, sunlight, nutrients, and genes are all important in determining how tall corn gets.
Height in the irregular field is still heritable–genes are still important–but it is not 100% heritable, because other stuff is important, too.
What does it mean to be 10, 40, or 80% heritable?
If height is 10% heritable, then most of the variety in height you see is due to non-genetic factors, like nutrition. Genes still have an effect–people with tall genes will still, on average, be taller–but environmental effects really dominate–perhaps some people who should have been tall are severely malnourished.
In modern, first world countries, height is about 80% heritable–that is, since most people in first world countries get plenty of food and don’t catch infections that stunt their growth, most of the variation we see is genetic. In some third world countries, however, the heritability of height drops to 65%. These are places where many people do not get the nutrients they need to achieve their full genetic potential.
How do you achieve 0% heritability?
A trait is 0% heritable not if you can’t inherit it, but if genetics explains none of the variation in the sample. Suppose we seeded an irregular field entirely with identical, cloned corn. The height of the resulting corn would would vary from area to area depending on nutrients, sunlight, water, etc. Since the original seeds were 100% genetically identical, all of the variation is environmental. Genes are, of course, important to height–if the relevant genes disappeared from the corn, it would stop growing–but they explain none of the variation in this population.
The heritability of a trait decreases, therefore, as genetic uniformity increases or the environment becomes more unequal. Heritability increases as genetics become more varied or the environment becomes more equal.
Note that the genes involved do not need to code directly for the trait being measured. The taller people in a population, for example, might have lactase persistence genes, which let them extract more calories from the milk they drink than their neighbors. Or they might be thieves who steal food from their neighbors.
I remember a case where investigators were trying to discover why most of the boys at an orphanage had developed pellagra, then a mystery disease, but some hadn’t. It turns out that the boys who hadn’t developed it were sneaking into the kitchen at night and stealing food.
Pellagra is a nutritional deficiency caused by lack of niacin, aka B3. Poor Southerners used to come down with it from eating diets composed solely of (un-nixtamalized) corn for months on end.
The ultimate cause of pellagra is environmental–lack of niacin–but who comes down with pellagra is at least partially determined by genes, because genes influence your likelihood of eating nothing but corn for 6 months straight. Sociopaths who steal the occasional ham, for example, won’t get pellagra, but sociopaths who get caught and sent to badly run prisons, however, increase their odds of getting it. In general, smart people who work hard and earn lots of money significantly decrease their chance of getting it, but smart black people enslaved against their will are more likely to get it. So pellagra is heritable–even though it is ultimately a nutritional deficiency.
What’s the point of heritability?
If you’re breeding corn (or cattle,) it helps to know whether, given good conditions, you can hope to change a trait. Traits with low heritability even under good conditions simply can’t be affected very much by breeding, while traits with high heritability can.
In humans, heritability helps us seek out the ultimate causes of diseases. On a social level, it can help measure how fair a society is, or whether the things we are doing to try to make society better are actually working.
For example, people would love to find a way to make children smarter. From Baby Einstein to HeadStart, people have tried all sorts of things to raise IQ. But beyond making sure that everyone has enough to eat, no nutrient deficiencies, and some kind of education, few of these interventions seem to make much difference.
Here people usually throw in a clarification about the difference between “shared” and “non-shared” environment. Shared environment is stuff you share with other members of your population, like the house your family lives in or the school you and your classmates attend. Non-shared is basically “random stuff,” like the time you caught meningitis but your twin didn’t.
Like anything controversial, people of course argue about the methodology and mathematics of these studies. They also argue about proximate and ultimate causes, and get caught up matters of cultural variation. For example, is wearing glasses heritable? Some would say that it can’t be, because how can you inherit a gene that somehow codes for possessing a newly invented (on the scale of human evolutionary history) object?
But this is basically a fallacy that stems from mixing up proximate and ultimate causes. Obviously there is no gene that makes a pair of glasses grow out of your head, nor one that makes you feel compelled to go and buy them. It is also obvious that not all human populations throughout history have had glasses. But within a population that does have glasses, the chances of you wearing glasses is strongly predicted by whether or not you are nearsighted, and nearsightedness is a remarkable 91% heritable.
Of course, some nearsighted people opt to wear contact lenses, which lowers the heritability estimate for glasses, but the signal is still pretty darn strong, since almost no one who doesn’t have vision difficulties wears glasses.
If we expand our sample population to include people who lived before the invention of eyeglasses, or who live in countries where most people are too poor to afford glasses, then our heritability estimate will drop quite a bit. You can’t buy glasses if they don’t exist, after all, no matter how bad your eyesight it. But the fact that glasses themselves are a recent artifact of particular human cultures does not change the fact that, within those populations, wearing glasses is heritable.
“Heritability” does not depend on whether there is (or we know of ) any direct mechanism for a gene to code for the thing under study. It is only a statistical measure of genetic variation that correlates with the visible variation we’re looking at in a population.
In addition to the reported Neanderthal and Denisovan introgressions, our results support a third introgression in all Asian and Oceanian populations from an archaic population. This population is either related to the Neanderthal-Denisova clade or diverged early from the Denisova lineage.
(Congratulations to the authors, Mondal, Bertranpetit, and Lao.)
Here we report an analysis comparing cultural and genetic data from 13 populations from in and around Northeast Asia spanning 10 different language families/isolates. We construct distance matrices for language (grammar, phonology, lexicon), music (song structure, performance style), and genomes (genome-wide SNPs) and test for correlations among them. … robust correlations emerge between genetic and grammatical distances. Our results suggest that grammatical structure might be one of the strongest cultural indicators of human population history, while also demonstrating differences among cultural and genetic relationships that highlight the complex nature of human cultural and genetic evolution.
I feel like there’s a joke about grammar Nazis in here.
While humans average seven hours, other primates range from just under nine hours (blue-eyed black lemurs) to 17 (owl monkeys). Chimps, our closest living evolutionary relatives, average about nine and a half hours. And although humans doze for less time, a greater proportion is rapid eye movement sleep (REM), the deepest phase, when vivid dreams unfold.
Sleep is pretty much universal in the animal kingdom, but different species vary greatly in their habits. Elephants sleep about two hours out of 24; sloths more than 15. Individual humans vary in their sleep needs, but interestingly, different cultures vary greatly in the timing of their sleep, eg, the Spanish siesta. Our modern notion that people “should” sleep in a solid, 7-9 hour chunk (going so far as to “train” children to do it,) is more a result of electricity and industrial work schedules than anything inherent or healthy about human sleep. So if you find yourself stressed out because you keep taking a nap in the afternoon instead of sleeping through the night, take heart: you may be completely normal. (Unless you’re tired because of some illness, of course.)
Within any culture, people also prefer to rest and rise at different times: In most populations, individuals range from night owls to morning larks in a near bell curve distribution. Where someone falls along this continuum often depends on sex (women tend to rise earlier) and age (young adults tend to be night owls, while children and older adults typically go to bed before the wee hours).
Genes matter, too. Recent studies have identified about a dozen genetic variations that predict sleep habits, some of which are located in genes known to influence circadian rhythms.
While this variation can cause conflict today … it may be the vestige of a crucial adaptation. According to the sentinel hypothesis, staggered sleep evolved to ensure that there was always some portion of a group awake and able to detect threats.
So they gave sleep trackers to some Hadza, who must by now think Westerners are very strange, and found that at any particular period of the night, about 40% of people were awake; over 20 nights, there were “only 18 one-minute periods” when everyone was asleep. That doesn’t prove anything, but it does suggest that it’s perfectly normal for some people to be up in the middle of the night–and maybe even useful.
In May, a pair of papers published by separate teams in the journal Cell focused on the NOTCH family of genes, found in all animals and critical to an embryo’s development: They produce the proteins that tell stem cells what to turn into, such as neurons in the brain. The researchers looked at relatives of the NOTCH2 gene that are present today only in humans.
In a distant ancestor 8 million to 14 million years ago, they found, a copying error resulted in an “extra hunk of DNA,” says David Haussler of the University of California, Santa Cruz, a senior author of one of the new studies.
This non-functioning extra piece of NOTCH2 code is still present in chimps and gorillas, but not in orangutans, which went off on their own evolutionary path 14 million years ago.
About 3 million to 4 million years ago, a few million years after our own lineage split from other apes, a second mutation activated the once non-functional code. This human-specific gene, called NOTCH2NL, began producing proteins involved in turning neural stem cells into cortical neurons. NOTCH2NL pumped up the number of neurons in the neocortex, the seat of advanced cognitive function. Over time, this led to bigger, more powerful brains. …
The researchers also found NOTCH2NL in the ancient genomes of our closest evolutionary kin: the Denisovans and the Neanderthals, who had brain volumes similar to our own.
“Genomes that evolve in different geographic locations without intermixing can end up being different from each other,” said Kateryna Makova, Pentz Professor of Biology at Penn State and an author of the paper. “… This variation has a lot of advantages; for example, increased variation in immune genes can provide enhanced protection from diseases. However, variation in geographic origin within the genome could also potentially lead to communication issues between genes, for example between mitochondrial and nuclear genes that work together to regulate mitochondrial function.”
Researchers looked at recently (by evolutionary standards) mixed populations like Puerto Ricans and African Americans, comparing the parts of their DNA that interact with mitochondria to the parts that don’t. Since mitochondria hail from your mother, and these populations have different ethnic DNA contributions along maternal and paternal lines. If all of the DNA were equally compatible with their mitochondria, then we’d expect to see equal contributions to the specifically mitochondria-interacting genes. If some ethnic origins interact better with the mitochondria, then we expect to see more of this DNA in these specific places.
The latter is, in fact, what we find. Puerto Ricans hail more from the Taino Indians along their mtDNA, and have relatively more Taino DNA in the genes that affect their mitochondria–indicating that over the years, individuals with more balanced contributions were selected against in Puerto Rico. (“Selection” is such a sanitized way of saying they died/had fewer children.)
This indicates that a recently admixed population may have more health issues than its parents, but the issues will work themselves out over time.
Welcome back to the Book Club. Today we’re discussing chapter 6 of Cochran and Harpending’s The 10,000 Year Explosion: Expansions.
The general assumption is that the winning advantage is cultural–that is to say, learned. Weapons, tactics, political organization, methods of agriculture: all is learned. The expansion of modern humans is the exception to the rule–most observers suspect that biological difference were the root cause of their advantage. …
the assumption that more recent expansions are all driven by cultural factors is based on the notion that modern humans everywhere have essentially the same abilities. that’s a logical consequence of human evolutionary stasis” If humans have not undergone a significant amount of biological change since the expansion out of Africa, then people everywhere would have essentially the same potentials, and no group would have a biological advantage over its neighbors. But as we never tire of pointing out, there has been significant biological change during that period.
I remember a paper I wrote years ago (long before this blog) on South Korea’s meteoric economic rise. In those days you had to actually go to the library to do research, not just futz around on Wikipedia. My memory says the stacks were dimly lit, though that is probably just some romanticizing.
I poured through volumes on 5 year economic plans, trying to figure out why South Korea’s were more successful than other nations’. Nothing stood out to me. Why this plan and not this plan? Did 5 or 10 years matter?
I don’t remember what I eventually concluded, but it was probably something along the lines of “South Korea made good plans that worked.”
People around these parts often criticize Jared Diamond for invoking environmental explanations while ignoring or directly counter-signaling their evolutionary implications, but Diamond was basically the first author I read who said anything that even remotely began to explain why some countries succeeded and others failed.
Environment matters. Resources matter. Some peoples have long histories of civilization, others don’t. Korea has a decently long history.
Diamond was one of many authors who broke me out of the habit of only looking at explicit things done by explicitly recognized governments, and at wider patterns of culture, history, and environment. It was while reading Peter Frost’s blog that I first encountered the phrase “gene-culture co-evolution,” which supplies the missing link.
South Korea does well because 1. It’s not communist and 2. South Koreans are some of the smartest people in the world.
I knew #1, but I could have saved myself a lot of time in the stacks if someone had just told me #2 instead of acting like SK’s economic success was a big mystery.
The fact that every country was relatively poor before industrialization, and South Korea was particularly poor after a couple decades of warfare back and forth across the peninsula, obscures the nation’s historically high development.
For example, the South Korean Examination system, Gwageo, was instituted in 788 (though it apparently didn’t become important until 958). Korea has had agriculture and literacy for a long time, with accompanying political and social organization. This probably has more to do with South Korea having a relatively easy time adopting the modern industrial economy than anything in particular in the governments’ plans.
In fact, in my mind the real question is not why various peoples didn’t domesticate animals that we know were domesticable, but rather how anyone ever managed to domesticate the aurochs. At least twice. Imagine a longhorn on roids: they were big and aggressive, favorites in the Roman arena. …
The idea is that at least some individual aurochs were not as hostile and fearful of humans as they ought to have been, because they were being manipulated by some parasite. … This would have made domestication a hell of a lot easier. …
The beef tape worm may not have made it through Beringia. More generally, there were probably no parasites in the Americas that had some large mammal as intermediate host and Amerindians as the traditional definite host.
They never mentioned parasites in gov class.
Back to the book–I thought this was pretty interesting:
One sign of this reduced disease pressure is the unusual distribution of HLA alleles among Amerindians. the HLA system … is a group of genes that encode proteins expressed on the outer surfaces of cells. the immune system uses them to distinguish the self from non-self… their most important role is in infections disease. …
HLA genes are among the most variable of all genes. … Because these genes are so variable, any two humans (other than identical twins) are almost certain to have a different set of them. … Natural selection therefore favors diversification of the HLA genes, and some alleles, though rare, have been persevered for a long time. In fact, some are 30 million years old, considerably older than Homo sapiens. …
But Amerindians didn’t have that diversity. Many tribes have a single HLA allele with a frequency of over 50 percent. … A careful analysis of global HLA diversity confirms continuing diversifying selection on HLA in most human populations but finds no evidence of any selection at all favoring diversity in HLA among Amerindians.
The results, of course, went very badly for the Indians–and allowed minuscule groups of Spaniards to conquer entire empires.
The threat of European (and Asian and African) diseases wiping out native peoples continues, especially for “uncontacted” tribes. As the authors note, the Surui of Brazil numbered 800 when contacted in 1980, but only 200 in 1986, after tuberculosis had killed most of them.
…in 1827, smallpox spared only 125 out of 1,600 Mandan Indians in what later became North Dakota.
The past is horrific.
I find the history ancient exploration rather fascinating. Here is the frieze in Persepolis with the okapi and three Pygmies, from about 500 BC.
The authors quote Joao de Barros, a 16th century Portuguese historian:
But it seems that for our sins, or for some inscrutable judgment of God, in all the entrances of this great Ethiopia we navigate along… He has placed a striking angel with a flaming sword of deadly fevers, who prevents us from penetrating into the interior to the springs of this garden, whence proceed these rivers of gold that flow to the sea in so many parts of our conquest.
Barros had a way with words.
It wasn’t until quinine became widely available that Europeans had any meaningful success at conquering Africa–and even still, despite massive technological advantages, Europeans haven’t held the continent, nor have they made any significant, long-term demographic impact.
The book then segues into a discussion of the Indo-European expansion, which the authors suggest might have been due to the evolution of a lactase persistence gene.
(Even though we usually refer to people as “lactose intolerance” and don’t regularly refer to people as “lactose tolerant,” it’s really tolerance that’s the oddity–most of the world’s population can’t digest lactose after childhood.
Lactase is the enzyme that breaks down lactose.)
Since the book was published, the Indo-European expansion has been traced genetically to the Yamnaya (not to be confused with the Yanomamo) people, located originally in the steppes north of the Caucasus mountains. (The Yamnaya and Kurgan cultures were, I believe, the same.)
An interesting linguistic note:
Uralic languages (the language family containing Finnish and Hungarian) appear to have had extensive contact with early Indo-European, and they may share a common ancestry.
I hope these linguistic mysteries continue to be decoded.
In a new study, we have added a piece to the puzzle: the Y chromosomes of the majority of European men can be traced back to just three individuals living between 3,500 and 7,300 years ago. How their lineages came to dominate Europe makes for interesting speculation. One possibility could be that their DNA rode across Europe on a wave of new culture brought by nomadic people from the Steppe known as the Yamnaya.
Welcome back to the book club. Today we’re discussing Chapter 5 of The 10,000 Year Explosion, Gene Flow. In this chapter, Greg and Henry discuss some of the many ways genes can (and sometimes can’t) get around.
You know, sometimes it is difficult to think of something really interesting to say in reaction to something I’ve read. Sometimes I just think it is very interesting, and hope others find it so, too. This is one of those chapters.
So today I decided to read the papers cited in the chapter, plus a few more related papers on the subject.
Single-nucleotide polymorphism (SNP) analysis indicated that three major haplogroups, denoted as C, Q, and R, accounted for nearly 96% of Native American Y chromosomes. Haplogroups C and Q were deemed to represent early Native American founding Y chromosome lineages; however, most haplogroup R lineages present in Native Americans most likely came from recent admixture with Europeans. Although different phylogeographic and STR diversity patterns for the two major founding haplogroups previously led to the inference that they were carried from Asia to the Americas separately, the hypothesis of a single migration of a polymorphic founding population better fits our expanded database. Phylogenetic analyses of STR variation within haplogroups C and Q traced both lineages to a probable ancestral homeland in the vicinity of the Altai Mountains in Southwest Siberia. Divergence dates between the Altai plus North Asians versus the Native American population system ranged from 10,100 to 17,200 years for all lineages, precluding a very early entry into the Americas.
We found that sociocultural factors have played a more important role than language or geography in shaping the patterns of Y chromosome variation in eastern North America. Comparisons with previous mtDNA studies of the same samples demonstrate that male and female demographic histories differ substantially in this region. Postmarital residence patterns have strongly influenced genetic structure, with patrilocal and matrilocal populations showing different patterns of male and female gene flow. European contact also had a significant but sex-specific impact due to a high level of male-mediated European admixture. Finally, this study addresses long-standing questions about the history of Iroquoian populations by suggesting that the ancestral Iroquoian population lived in southeastern North America.
And in Mexico, your different racial mix has something to do with your risk of Type 2 Diabetes, but you know, race is a social construct or something:
Type 2 diabetes (T2D) is at least twice as prevalent in Native American populations as in populations of European ancestry, so admixture mapping is well suited to study the genetic basis of this complex disease. We have characterized the admixture proportions in a sample of 286 unrelated T2D patients and 275 controls from Mexico City and we discuss the implications of the results for admixture mapping studies. … The average proportions of Native American, European and, West African admixture were estimated as 65, 30, and 5%, respectively. The contributions of Native American ancestors to maternal and paternal lineages were estimated as 90 and 40%, respectively. In a logistic model with higher educational status as dependent variable, the odds ratio for higher educational status associated with an increase from 0 to 1 in European admixture proportions was 9.4 (95%, credible interval 3.8-22.6). This association of socioeconomic status with individual admixture proportion shows that genetic stratification in this population is paralleled, and possibly maintained, by socioeconomic stratification. The effective number of generations back to unadmixed ancestors was 6.7 (95% CI 5.7-8.0)…
In other words, Conquistador men had children with a lot of the local ladies.
Studies of Native South American genetic diversity have helped to shed light on the peopling and differentiation of the continent, but available data are sparse for the major ecogeographic domains. These include the Pacific Coast, a potential early migration route; the Andes, home to the most expansive complex societies and to one of the most spoken indigenous language families of the continent (Quechua); and Amazonia, with its understudied population structure and rich cultural diversity. Here we explore the genetic structure of 177 individuals from these three domains, genotyped with the Affymetrix Human Origins array. We infer multiple sources of ancestry within the Native American ancestry component; one with clear predominance on the Coast and in the Andes, and at least two distinct substrates in neighboring Amazonia, with a previously undetected ancestry characteristic of northern Ecuador and Colombia. Amazonian populations are also involved in recent gene-flow with each other and across ecogeographic domains, which does not accord with the traditional view of small, isolated groups. Long distance genetic connections between speakers of the same language family suggest that languages had spread not by cultural contact alone. Finally, Native American populations admixed with post-Columbian European and African sources at different times, with few cases of prolonged isolation.
The X chromosome in non-African populations has less diversity and less Neanderthal introgression than expected. We analyzed X chromosome diversity across the globe and discovered seventeen chromosomal regions, where haplotypes of several hundred kilobases have recently reached high frequencies in non-African populations only. The selective sweeps must have occurred more than 45,000 years ago because the ancient Ust’-Ishim male also carries its expected proportion of these haplotypes. Surprisingly, the swept haplotypes are entirely devoid of Neanderthal introgression, which implies that a population without Neanderthal admixture contributed the swept haplotypes. It also implies that the sweeps must have happened after the main interbreeding event with Neanderthals about 55,000 BP. These swept haplotypes may thus be the only genetic remnants of an earlier out-of-Africa event.
Why not a later out-of-Africa event? Or a simultaneous event that just happened not to mate with Neanderthals? Or sweeps on the X chromosome that happened to remove Neanderthal DNA due to Neanderthal and X being really incompatible? I don’t know.
Who are Europeans? Both prehistoric archaeology and, subsequently, classical population genetics have attempted to trace the ancestry of modern Europeans back to the first appearance of agriculture in the continent; however, the question has remained controversial. Classical population geneticists attributed the major pattern in the European gene pool to the demographic impact of Neolithic farmers dispersing from the Near East, but archaeological research has failed to uncover substantial evidence for the population growth that is supposed to have driven this process. … Both mitochondrial DNA and Y-chromosome analyses have indicated a contribution of Neolithic Near Eastern lineages to the gene pool of modern Europeans of around a quarter or less. This suggests that dispersals bringing the Neolithic to Europe may have been demographically minor and that contact and assimilation had an important role.
I wouldn’t call a quarter “minor.” But it is true that the Anatolian farming people who invaded Europe didn’t kill off all of the locals, and then later Europe was invaded by the non-Anatolian, Indo-European people.
(i) All Australian lineages are confirmed to fall within the mitochondrial founder branches M and N and the Y chromosomal founders C and F, which are associated with the exodus of modern humans from Africa ≈50–70,000 years ago. The analysis reveals no evidence for any archaic maternal or paternal lineages in Australians, despite some suggestively robust features in the Australian fossil record, thus weakening the argument for continuity with any earlier Homo erectus populations in Southeast Asia. (ii) The tree of complete mtDNA sequences shows that Aboriginal Australians are most closely related to the autochthonous populations of New Guinea/Melanesia, indicating that prehistoric Australia and New Guinea were occupied initially by one and the same Palaeolithic colonization event ≈50,000 years ago, … (iii) The deep mtDNA and Y chromosomal branching patterns between Australia and most other populations around the Indian Ocean point to a considerable isolation after the initial arrival. (iv) We detect only minor secondary gene flow into Australia, and this could have taken place before the land bridge between Australia and New Guinea was submerged ≈8,000 years ago…
Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. … We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of 127 contemporary Aboriginal Australians. In particular, the more common haplogroups observed in our dataset included M42a, M42c, S, P5 and P12, followed by rarer haplogroups M15, M16, N13, O, P3, P6 and P8. We propose some major phylogenetic rearrangements, such as in haplogroup P where we delinked P4a and P4b and redefined them as P4 (New Guinean) and P11 (Australian), respectively. Haplogroup P2b was identified as a novel clade potentially restricted to Torres Strait Islanders. Nearly all Aboriginal Australian mitochondrial haplogroups detected appear to be ancient, with no evidence of later introgression during the Holocene.
We find that recent population history within Indonesia is complex, and that populations from the Philippines made important genetic contributions in the early phases of the Austronesian expansion. Different, but interrelated processes, acted in the east and west. The Austronesian migration took several centuries to spread across the eastern part of the archipelago, where genetic admixture postdates the archeological signal. As with the Neolithic expansion further east in Oceania and in Europe, genetic mixing with local inhabitants in eastern Indonesia lagged behind the arrival of farming populations. In contrast, western Indonesia has a more complicated admixture history shaped by interactions with mainland Asian and Austronesian newcomers, which for some populations occurred more than once. Another layer of complexity in the west was introduced by genetic contact with South Asia and strong demographic events in isolated local groups.
I liked the quote from Jared Diamond (say what you will about him, I like Diamond. He at least tries hard to tackle difficult questions):
“When I was living among Elopi tribespeople in west New Guinea and wanted to cross the territory of the neighboring Fayu tribe in order to reach a nearby mountain, the Elopis explained tome matter-of-factly that the Fayus would kill me if I tried. From a New Guinea perspective, it seemed so perfectly natural and self-explanatory. Of course the Fayus will kill any trespasser…”
This is why people often claim that we moderns are the WEIRDOs.
Three Pakistani populations residing in northern Pakistan, the Burusho, Kalash and Pathan claim descent from Greek soldiers associated with Alexander’s invasion of southwest Asia. … In pairwise comparisons between the Greeks and the three Pakistani populations using genetic distance measures sensitive to recent events, the lowest distances were observed between the Greeks and the Pathans. Clade E3b1 lineages, which were frequent in the Greeks but not in Pakistan, were nevertheless observed in two Pathan individuals, one of whom shared a 16 Y-STR haplotype with the Greeks. The worldwide distribution of a shortened (9 Y-STR) version of this haplotype, determined from database information, was concentrated in Macedonia and Greece, suggesting an origin there. Although based on only a few unrelated descendants this provides strong evidence for a European origin for a small proportion of the Pathan Y chromosomes.
Of course, who can discuss genetic spread without mentioning that lord of men, Genghis Khan?
We have identified a Y-chromosomal lineage with several unusual features. It was found in 16 populations throughout a large region of Asia, stretching from the Pacific to the Caspian Sea, and was present at high frequency: ∼8% of the men in this region carry it, and it thus makes up ∼0.5% of the world total. The pattern of variation within the lineage suggested that it originated in Mongolia ∼1,000 years ago. Such a rapid spread cannot have occurred by chance; it must have been a result of selection. The lineage is carried by likely male-line descendants of Genghis Khan, and we therefore propose that it has spread by a novel form of social selection resulting from their behavior.
Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. … The brown eye color allele of rs12913832 is highly conserved throughout a number of species. … One single haplotype, represented by six polymorphic SNPs covering half of the 3′ end of the HERC2 gene, was found in 155 blue-eyed individuals from Denmark, and in 5 and 2 blue-eyed individuals from Turkey and Jordan, respectively. Hence, our data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans. In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color.
What about you? What did you think of this chapter?
New tests on two ancient teeth found in a cave in Indonesia more than 120 years ago have established that early modern humans arrived in Southeast Asia at least 20,000 years earlier than scientists previously thought, according to a new study. …
The findings push back the date of the earliest known modern human presence in tropical Southeast Asia to between 63,000 and 73,000 years ago. The new study also suggests that early modern humans could have made the crossing to Australia much earlier than the commonly accepted time frame of 60,000 to 65,000 years ago.
I would like to emphasize that nothing based on a couple of teeth is conclusive, “settled,” or “proven” science. Samples can get contaminated, machines make errors, people play tricks–in the end, we’re looking for the weight of the evidence.
I am personally of the opinion that there were (at least) two ancient human migrations into south east Asia, but only time will tell if I am correct.
We investigated the genetic architecture of family relationship satisfaction and friendship satisfaction in the UK Biobank. …
In the DSM-55, difficulties in social functioning is one of the criteria for diagnosing conditions such as autism, anorexia nervosa, schizophrenia, and bipolar disorder. However, little is known about the genetic architecture of social relationship satisfaction, and if social relationship dissatisfaction genetically contributes to risk for psychiatric conditions. …
We present the results of a large-scale genome-wide association study of social
relationship satisfaction in the UK Biobank measured using family relationship satisfaction and friendship satisfaction. Despite the modest phenotypic correlations, there was a significant and high genetic correlation between the two phenotypes, suggesting a similar genetic architecture between the two phenotypes.
Note: the two “phenotypes” here are “family relationship satisfaction” and “friendship satisfaction.”
We first investigated if the two phenotypes were genetically correlated with
psychiatric conditions. As predicted, most if not all psychiatric conditions had a significant negative correlation for the two phenotypes. … We observed significant negative genetic correlation between the two phenotypes and a large cross-condition psychiatric GWAS38. This underscores the importance of social relationship dissatisfaction in psychiatric conditions. …
In other words, people with mental illnesses generally don’t have a lot of friends nor get along with their families.
One notable exception is the negative genetic correlation between measures of cognition and the two phenotypes. Whilst subjective wellbeing is positively genetically correlated with measures of cognition, we identify a small but statistically significant negative correlation between measures of correlation and the two phenotypes.
Are they saying that smart people have fewer friends? Or that dumber people are happier with their friends and families? I think they are clouding this finding in intentionally obtuse language.
A recent study highlighted that people with very high IQ scores tend to report lower satisfaction with life with more frequent socialization.
Oh, I think I read that one. It’s not the socialization per se that’s the problem, but spending time away from the smart person’s intellectual activities. For example, I enjoy discussing the latest genetics findings with friends, but I don’t enjoy going on family vacations because they are a lot of work that does not involve genetics. (This is actually something my relatives complain about.)
…alleles that increase the risk for schizophrenia are in the same haplotype as
alleles that decrease friendship satisfaction. The functional consequences of this locus must be formally tested. …
Loss of function mutations in these genes lead to severe biochemical consequences, and are implicated in several neuropsychiatric conditions. For
example, de novo loss of function mutations in pLI intolerant genes confers significant risk for autism. Our results suggest that pLI > 0.9 genes contribute to psychiatric risk through both common and rare genetic variation.
In previous posts, we discussed the evolution of Whites and Asians, so today we’re taking a look at people from Sub-Saharan Africa.
Modern humans only left Africa about 100,000 to 70,000 yeas ago, and split into Asians and Caucasians around 40,000 years ago. Their modern appearances came later–white skin, light hair and light eyes, for example, only evolved in the past 20,000 and possibly within the past 10,000 years.
What about the Africans, or specifically, Sub-Saharans? (North Africans, like Tunisians and Moroccans, are in the Caucasian clade.) When did their phenotypes evolve?
The Sahara, an enormous desert about the size of the United States, is one of the world’s biggest, most ancient barriers to human travel. The genetic split between SSAs and non-SSAs, therefore, is one of the oldest and most substantial among human populations. But there are even older splits within Africa–some of the ancestors of today’s Pygmies and Bushmen may have split off from other Africans 200,000-300,000 years ago. We’re not sure, because the study of archaic African DNA is still in its infancy.
The Bushmen present an interesting case, because their skin is quite light (for Africans.) I prefer to call it golden. The nearby Damara of Namibia, by contrast, are one of the world’s darkest peoples. (The peoples of South Sudan, eg Malik Agar, may be darker, though.) The Pygmies are the world’s shortest peoples; the peoples of South Sudan, such as the Dinka and Shiluk, are among the world’s tallest.
Sub-Saharan Africa’s ethnic groups can be grouped, very broadly, into Bushmen, Pygmies, Bantus (aka Niger-Congo), Nilotics, and Afro-Asiatics. Bushmen and Pygmies are extremely small groups, while Bantus dominate the continent–about 85% of Sub Saharan Africans speak a language from the Niger-Congo family. The Afro-Asiatic groups, as their name implies, have had extensive contact with North Africa and the Middle East.
Most of America’s black population hails from West Africa–that is, the primarily Bantu region. The Bantus and similar-looking groups among the Nilotics and Afro-Asiatics (like the Hausa) are, therefore, have both Africa’s most iconic and most common phenotypes.
For the sake of this post, we are not interested in the evolution of traits common to all humans, such as bipedalism. We are only interested in those traits generally shared by most Sub-Saharans and generally not shared by people outside of Africa.
One striking trait is black hair: it is distinctively “curly” or “frizzy.” Chimps and gorrilas do not have curly hair. Neither do whites and Asians. (Whites and Asians, therefore, more closely resemble chimps in this regard.) Only Africans and a smattering of other equatorial peoples like Melanesians have frizzy hair.
Black skin is similarly distinct. Chimps, who live in the shaded forest and have fur, do not have high levels of melanin all over their bodies. While chimps naturally vary in skin tone, an unfortunate, hairless chimp is practically “white.”
Humans therefore probably evolved both black skin and frizzy hair at about the same time–when we came out of the shady forests and began running around on the much sunnier savannahs. Frizzy hair seems well-adapted to cooling–by standing on end, it lets air flow between the follicles–and of course melanin is protective from the sun’s rays. (And apparently, many of the lighter-skinned Bushmen suffer from skin cancer.)
Steatopygia also comes to mind, though I don’t know if anyone has studied its origins.
According to Wikipedia, additional traits common to Sub-Saharan Africans include:
Modern cross-analysis of osteological variables and genome-wide SNPs has identified specific genes, which control this craniofacial development. Of these genes, DCHS2, RUNX2, GLI3, PAX1 and PAX3 were found to determine nasal morphology, whereas EDAR impacts chin protrusion. …
Ashley Montagu lists “neotenous structural traits in which…Negroids [generally] differ from Caucasoids… flattish nose, flat root of the nose, narrower ears, narrower joints, frontal skull eminences, later closure of premaxillarysutures, less hairy, longer eyelashes, [and] cruciform pattern of second and third molars.”
As hominids gradually lost their fur (between 4.5 and 2 million years ago) to allow for better cooling through sweating, their naked and lightly pigmented skin was exposed to sunlight. In the tropics, natural selection favoured dark-skinned human populations as high levels of skin pigmentation protected against the harmful effects of sunlight. Indigenous populations’ skin reflectance (the amount of sunlight the skin reflects) and the actual UV radiation in a particular geographic area is highly correlated, which supports this idea. Genetic evidence also supports this notion, demonstrating that around 1.2 million years ago there was a strong evolutionary pressure which acted on the development of dark skin pigmentation in early members of the genus Homo.…
About 7 million years ago human and chimpanzee lineages diverged, and between 4.5 and 2 million years ago early humans moved out of rainforests to the savannas of East Africa. They not only had to cope with more intense sunlight but had to develop a better cooling system. …
Skin colour is a polygenic trait, which means that several different genes are involved in determining a specific phenotype. …
Data collected from studies on MC1R gene has shown that there is a lack of diversity in dark-skinned African samples in the allele of the gene compared to non-African populations. This is remarkable given that the number of polymorphisms for almost all genes in the human gene pool is greater in African samples than in any other geographic region. So, while the MC1Rf gene does not significantly contribute to variation in skin colour around the world, the allele found in high levels in African populations probably protects against UV radiation and was probably important in the evolution of dark skin.
Skin colour seems to vary mostly due to variations in a number of genes of large effect as well as several other genes of small effect (TYR, TYRP1, OCA2, SLC45A2, SLC24A5, MC1R, KITLG and SLC24A4). This does not take into account the effects of epistasis, which would probably increase the number of related genes.Variations in the SLC24A5 gene account for 20–25% of the variation between dark and light skinned populations of Africa, and appear to have arisen as recently as within the last 10,000 years. The Ala111Thr or rs1426654 polymorphism in the coding region of the SLC24A5 gene reaches fixation in Europe, and is also common among populations in North Africa, the Horn of Africa, West Asia, Central Asia and South Asia.
That’s rather interesting about MC1R. It could imply that the difference in skin tone between SSAs and non-SSAs is due to active selection in Blacks for dark skin and relaxed selection in non-Blacks, rather than active selection for light skin in non-Blacks.
MC1R is one of the key proteins involved in regulating mammalianskin and hair color. …It works by controlling the type of melanin being produced, and its activation causes the melanocyte to switch from generating the yellow or red phaeomelanin by default to the brown or black eumelanin in replacement. …
This is consistent with active selection being necessary to produce dark skin, and relaxed selection producing lighter tones.
Studies show the MC1R Arg163Gln allele has a high frequency in East Asia and may be part of the evolution of light skin in East Asian populations. No evidence is known for positive selection of MC1R alleles in Europe and there is no evidence of an association between MC1R and the evolution of light skin in European populations. The lightening of skin color in Europeans and East Asians is an example of convergent evolution.
Dark-skinned people living in low sunlight environments have been recorded to be very susceptible to vitamin D deficiency due to reduced vitamin D synthesis. A dark-skinned person requires about six times as much UVB than lightly pigmented persons.
In Reconstructing Prehistoric African Population Structure, Skoglund et al assembled genetic data from 16 prehistoric Africans and compared them to DNA from nearby present-day Africans. They found:
The ancestors of the Bushmen (aka the San/KhoiSan) once occupied a much wider area.
They contributed about 2/3s of the ancestry of ancient Malawi hunter-gatherers (around 8,100-2,500 YA)
Contributed about 1/3 of the ancestry of ancient Tanzanian hunter-gatherers (around 1,400 YA)
Farmers (Bantus) spread from west Africa, completely replacing hunter-gatherers in some areas
Modern Malawians are almost entirely Bantu.
A Tanzanian pastoralist population from 3,100 YA spread out across east Africa and into southern Africa
Bushmen ancestry was not found in modern Hadza, even though they are hunter-gatherers and speak a click language like the Bushmen.
The Hadza more likely derive most of their ancestry from ancient Ethiopians
Modern Bantu-speakers in Kenya derive from a mix between western Africans and Nilotics around 800-400 years ago.
Middle Eastern (Levant) ancestry is found across eastern Africa from an admixture event that occurred around 3,000 YA, or around the same time as the Bronze Age Collapse.
A small amount of Iranian DNA arrived more recently in the Horn of Africa
Ancient Bushmen were more closely related to modern eastern Africans like the Dinka (Nilotics) and Hadza than to modern west Africans (Bantus),
This suggests either complex relationships between the groups or that some Bantus may have had ancestors from an unknown group of humans more ancient than the Bushmen.
Modern Bushmen have been evolving darker skins
Pygmies have been evolving shorter stature
I missed #12-13 on my previous post about this paper, though I did note that the more data we get on ancient African groups, the more likely I think we are to find ancient admixture events. If humans can mix with Neanderthals and Denisovans, then surely our ancestors could have mixed with Ergaster, Erectus, or whomever else was wandering around.
#15 is interesting, and consistent with the claim that Bushmen suffer from a lot of skin cancer–before the Bantu expansion, they lived in far more forgiving climates than the Kalahari desert. But since Bushmen are already lighter than their neighbors, this begs the question of how light their ancestors–who had no Levantine admixture–were. Could the Bantus’ and Nilotics’ darker skins have evolved after the Bushmen/everyone else split?
Meanwhile, in Loci Associated with Skin Pigmentation Identified in African Populations, Crawford et al used genetic samples from 1,570 people from across Africa to find six genetic areas–SLC24A5, MFSD12, DDB1, TMEM138, OCA2 and HERC2–which account for almost 30% of the local variation in skin color.
SLC24A5 is a light pigment introduced to east Africa from the Levant, probably around 3,000 years ago. Today, it is common in Ethiopia and Tanzania.
Interestingly, according to the article, “At all other loci, variants associated with dark pigmentation in Africans are identical by descent in southern Asian and Australo-Melanesian populations.”
These are the world’s other darkest peoples, such as the Jarawas of the Andaman Islands or the Melanesians of Bougainville, PNG. (And, I assume, some groups from India such as the Tamils.) This implies that these groups 1. had dark skin already when they left Africa, and 2. Never lost it on their way to their current homes. (If they had gotten lighter during their journey and then darkened again upon arrival, they likely would have different skin color variants than their African cousins.)
This implies that even if the Bushmen split off (around 200,000-300,000 YA) before dark skin evolved, it had evolved by the time people left Africa and headed toward Australia (around 100,000-70,000 YA.) This gives us a minimum threshold: it most likely evolved before 70,000 YA.
(But as always, we should be careful because perhaps there are even more skin color variant that we don’t know about yet in these populations.)
MFSD12 is common among Nilotics and is related to darker skin.
Further, the alleles associated with skin pigmentation at all loci but SLC24A5 are ancient, predating the origin of modern humans. The ancestral alleles at the majority of predicted causal SNPs are associated with light skin, raising the possibility that the ancestors of modern humans could have had relatively light skin color, as is observed in the San population today.
The full article is not out yet, so I still don’t know when all of these light and dark alleles emerged, but the order is absolutely intriguing. For now, it looks like this mystery will still have to wait.
It was only two years ago that researchers found the first ancient human genome in Africa: a skeleton in a cave in Ethiopia yielded DNA that turned out to be 4,500 years old.
On Thursday, an international team of scientists reported that they had recovered far older genes from bone fragments in Malawi dating back 8,100 years. The researchers also retrieved DNA from 15 other ancient people in eastern and southern Africa, and compared the genes to those of living Africans.
We assembled genome-wide data from 16 prehistoric Africans. We show that the anciently divergent lineage that comprises the primary ancestry of the southern African San had a wider distribution in the past, contributing approximately two-thirds of the ancestry of Malawi hunter-gatherers ∼8,100–2,500 years ago and approximately one-third of the ancestry of Tanzanian hunter-gatherers ∼1,400 years ago.
The San are also known as the Bushmen, a famous group of recent hunter-gatherers from southern Africa.
We document how the spread of farmers from western Africa involved complete replacement of local hunter-gatherers in some regions…
…and we track the spread of herders by showing that the population of a ∼3,100-year-old pastoralist from Tanzania contributed ancestry to people from northeastern to southern Africa, including a ∼1,200-year-old southern African pastoralist…
Whereas the two individuals buried in ∼2,000 BP hunter-gatherer contexts in South Africa share ancestry with southern African Khoe-San populations in the PCA, 11 of the 12 ancient individuals who lived in eastern and south-central Africa between ∼8,100 and ∼400 BP form a gradient of relatedness to the eastern African Hadza on the one hand and southern African Khoe-San on the other (Figure 1A).
The Hadza are a hunter-gatherer group from Tanzania who are not obviously related to any other people. Their language has traditionally been classed alongside the languages of the KhoiSan/Bushmen people because they all contain clicks, but the languages otherwise have very little in common and Hadza appears to be a language isolate, like Basque.
The genetic cline correlates to geography, running along a north-south axis with ancient individuals from Ethiopia (∼4,500 BP), Kenya (∼400 BP), Tanzania (both ∼1,400 BP), and Malawi (∼8,100–2,500 BP), showing increasing affinity to southern Africans (both ancient individuals and present-day Khoe-San). The seven individuals from Malawi show no clear heterogeneity, indicating a long-standing and distinctive population in ancient Malawi that persisted for at least ∼5,000 years (the minimum span of our radiocarbon dates) but which no longer exists today. …
We find that ancestry closely related to the ancient southern Africans was present much farther north and east in the past than is apparent today. This ancient southern African ancestry comprises up to 91% of the ancestry of Khoe-San groups today (Table S5), and also 31% ± 3% of the ancestry of Tanzania_Zanzibar_1400BP, 60% ± 6% of the ancestry of Malawi_Fingira_6100BP, and 65% ± 3% of the ancestry of Malawi_Fingira_2500BP (Figure 2A). …
Both unsupervised clustering (Figure 1B) and formal ancestry estimation (Figure 2B) suggest that individuals from the Hadza group in Tanzania can be modeled as deriving all their ancestry from a lineage related deeply to ancient eastern Africans such as the Ethiopia_4500BP individual …
So what’s up with the Tanzanian expansion mentioned in the summary?
Western-Eurasian-related ancestry is pervasive in eastern Africa today … and the timing of this admixture has been estimated to be ∼3,000 BP on average… We found that the ∼3,100 BP individual… associated with a Savanna Pastoral Neolithic archeological tradition, could be modeled as having 38% ± 1% of her ancestry related to the nearly 10,000-year-old pre-pottery farmers of the Levant … These results could be explained by migration into Africa from descendants of pre-pottery Levantine farmers or alternatively by a scenario in which both pre-pottery Levantine farmers and Tanzania_Luxmanda_3100BP descend from a common ancestral population that lived thousands of years earlier in Africa or the Near East. We fit the remaining approximately two-thirds of Tanzania_Luxmanda_3100BP as most closely related to the Ethiopia_4500BP…
…present-day Cushitic speakers such as the Somali cannot be fit simply as having Tanzania_Luxmanda_3100BP ancestry. The best fitting model for the Somali includes Tanzania_Luxmanda_3100BP ancestry, Dinka-related ancestry, and 16% ± 3% Iranian-Neolithic-related ancestry (p = 0.015). This suggests that ancestry related to the Iranian Neolithic appeared in eastern Africa after earlier gene flow related to Levant Neolithic populations, a scenario that is made more plausible by the genetic evidence of admixture of Iranian-Neolithic-related ancestry throughout the Levant by the time of the Bronze Age …and in ancient Egypt by the Iron Age …
There is then a discussion of possible models of ancient African population splits (were the Bushmen the first? How long have they been isolated?) I suspect the more ancient African DNA we uncover, the more complicated the tree will become, just as in Europe and Asia we’ve discovered Neanderthal and Denisovan admixture.
They also compared genomes to look for genetic adaptations and found evidence for selection for taste receptors and “response to radiation” in the Bushmen, which the authors note “could be due to exposure to sunlight associated with the life of the ‡Khomani and Ju|’hoan North people in the Kalahari Basin, which has become a refuge for hunter-gatherer populations in the last millenia due to encroachment by pastoralist and agriculturalist groups.”
(The Bushmen are lighter than Bantus, with a more golden or tan skin tone.)
They also found evidence of selection for short stature among the Pygmies (which isn’t really surprising to anyone, unless you thought they had acquired their heights by admixture with another very short group of people.)
Overall, this is a great paper and I encourage you to RTWT, especially the pictures/graphs.
Examining ethnically diverse African genomes, we identify variants in or near SLC24A5, MFSD12, DDB1, TMEM138, OCA2 and HERC2 that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at SLC24A5 was introduced into East Africa by gene flow from non-Africans. At all other loci, variants associated with dark pigmentation in Africans are identical by descent in southern Asian and Australo-Melanesian populations. Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near DDB1/TMEM138 correlate with expression of UV response genes under selection in Eurasians.
I’ve had an essay on the evolution of African skin tones sitting in my draft folder for ages because this research hadn’t been done. There’s plenty of research on European and Asian skin tones (skin appears to have significantly lightened around 10,000 years ago in Europeans,) but much less on Africans. Luckily for me, this paper fixes that.
Looks like SLC24A5 is related to that Levantine/Iranian back-migration into Africa documented in the first paper.
Zoroastrianism is one of the world’s oldest surviving religions and possibly its first monotheistic one. It emerged in now-Iran about 3,000 years ago, but following the Arab (Islamic) conquest of Persia, many Zoroastrians migrated to India, where they became known as the Parsi (from the word for “Persian.”) To be clear, where this post refers to “Parsis” it means the specific Zoroastrian community in India, and where it refers to “Iranian Zoroastrians” it means the Zoroastrians currently living in Iran.
Although Zoroastrianism was once the official state religion of Persia, today only about 190,000 believers remain (according to Wikipedia,) and their numbers are declining.
Portuguese physician Garcia de Orta observed in 1563 that “there are merchants … in the kingdom of Cambaia … known as Esparcis. We Portuguese call them Jews, but they are not so. They are Gentios.”
Another parallel: Ashkenazi Jews and Parsis are both reported to be very smart. Famous Parsis include Queen Guitarist Freddy Mercury, nuclear physicist Homi J. Bhabha, and our Harvard-employed friend, Homi K. Bhabha.
Historical records indicate that migrants from Persia brought Zoroastrianism to India, but there is debate over the timing of these migrations. Here we present genome-wide autosomal, Y chromosome, and mitochondrial DNA data from Iranian and Indian Zoroastrians and neighboring modern-day Indian and Iranian populations and conduct a comprehensive genome-wide genetic analysis in these groups. … we find that Zoroastrians in Iran and India have increased genetic homogeneity relative to other sampled groups in their respective countries, consistent with their current practices of endogamy. Despite this, we infer that Indian Zoroastrians (Parsis) intermixed with local groups sometime after their arrival in India, dating this mixture to 690–1390 CE and providing strong evidence that Iranian Zoroastrian ancestry was maintained primarily through the male line.
Note that all diasporic–that is, migrant–groups appear to be heavily male. Women tend to stay put while men move and take new wives in their new homelands.
By making use of the rich information in DNA from ancient human remains, we also highlight admixture in the ancestors of Iranian Zoroastrians dated to 570 BCE–746CE, older than admixture seen in any other sampled Iranian group, consistent with a long-standing isolation of Zoroastrians from outside groups. …
Admixture with whom? (Let’s just read the paper and see if it answers the question):
Furthermore, a recent study using genome-wide autosomal DNA found that haplotype patterns in Iranian Zoroastrians matched more than other modern Iranian groups to a high-coverage early Neolithic farmer genome from Iran …
A study of four restriction fragment length polymorphisms (RFLPs) suggested a closer genetic affinity of Parsis to Southern Europeans than to non-Parsis from Bombay. Furthermore, NRY haplotype analysis and patterns of variation at the HLA locus in the Parsis of Pakistan support a predominately Iranian origin. …
In (1) and (2), we detected admixture in the Parsis dated to 27 (range: 17–38) and 32 (19–44) generations ago, respectively, in each case between one predominantly Indian-like source and one predominantly Iranian-like source. This large contribution from an Iranian-like source (∼64%–76%) is not seen in any of our other 7 Indian clusters, though we detect admixture in each of these 7 groups from wide-ranging sources related to modern day individuals from Bangladesh, Cambodia, Europe, Pakistan, or of Jewish heritage (Figures 2 and S7, Tables S5–S7). For Iranian Zoroastrians, we detect admixture only under analysis (2), occurring 66 (42–89) generations ago between a source best genetically explained as a mixture of modern-day Croatian and Cypriot samples, and a second source matching to the Neolithic Iranian farmer WC1. … The two Iranian Zoroastrians that had been excluded as outliers exhibited admixture patterns more similar to the Lebanese, Turkish Jews, or Iranian Bandari individuals than to Zoroastrians (Table S8).
If I assume a generation is about 25 years long, 27 generations was about 675 years ago; 32 was about 800 years ago. (Though given the wide range on these dates, perhaps we should estimate between 425 and 1,100 years ago.) This sounds consistent with Parsis taking local wives after they arrived in India between the 8th and 10th century CE (after the Arab conquest of Perisa.) Also consistently, this admixture isn’t found in Iranian Zoroastrians.
The Iranians’ admixture occurred about 1,050 and 2,225 years ago, which is an awfully broad time range. Could Croatian or Cypriot migrants have arrived due to the Greek/Roma/ Byzantine Empires? Were they incorporated into the Persian Empire as a result of its territorial conquests or the Arab conquest? Or were they just long-distance merchants who happened to wander into the area?
The authors found that Parsi priests had “the lowest gene diversity values of all population samples studied for both Y and mtDNA,” though they didn’t have enough Iranian Zoroastrian priest samples to compare them to Parsi priests. (I bet this is similar to what you’d find if you sampled Orthodox rabbis.)
Finally, in the genetic selection and diseases section, the authors write:
In the case of the Iranian Zoroastrians, … some of the most significant SNPs… are located upstream of gene SLC39A10 … with an important role in humoral immunity61 or in CALB2 … which plays a major role in the cerebellar physiology.62
With regard to the positive selection tests on Parsis versus India Hindu/Gujarati groups, the most significant SNPs were embedded in WWOX … associated with neurological disorders like early epilepsy … and in a region in chromosome 20 … (see Table S11 for a complete list). …
Genetic isolation and endogamous practices can be associated with higher frequencies of disease prevalence. For example, there are reports claiming a high recurrence of diseases such as diabetes among the Iranian Zoroastrians, and Parkinson, colon cancer, or the deficiency of G6PD, an enzyme that triggers the sudden reduction of red blood cells, among the Parsis.
However, the authors warn that these results are weak (these are rare conditions in an already small population) and cannot not be depended upon.
Continuing with our discussion of German/Polish history/languages/genetics, let’s look at what some actual geneticists have to say.
(If you’re joining us for the first time, the previous two posts summarize to: due to being next door to each other and having been invaded/settled over the millennia by groups which didn’t really care about modern political borders, Polish and German DNA are quite similar. More recent events, however, like Germany invading Poland and trying to kill all of the Poles and ethnic Germans subsequently fleeing/being expelled from Poland at the end of the war have created conditions necessary for genetic differentiation in the two populations.)
So I’ve been looking up whatever papers I can find on the subject.
The male genetic landscape of the European continent has been shown to be clinal and influenced primarily by geography rather than by language.1 One of the most outstanding phenomena in the Y-chromosomal diversity in Europe concerns the population of Poland, which reveals geographic homogeneity of Y-chromosomal lineages in spite of a relatively large geographic area seized by the Polish state.2 Moreover, a sharp genetic border has been identified between paternal lineages of neighbouring Poland and Germany, which strictly follows a political border between the two countries.3 Massive human resettlements during and shortly after the World War II (WWII), involving millions of Poles and Germans, have been proposed as an explanation for the observed phenomena.2, 3 Thus, it was possible that the local Polish populations formed after the early Slavic migrations displayed genetic heterogeneity before the war owing to genetic drift and/or gene flow with neighbouring populations. It has been also suggested that the revealed homogeneity of Polish paternal lineages existed already before the war owing to a common genetic substrate inherited from the ancestral Slavic population after the Slavs’ early medieval expansion in Europe.2 …
We used high-resolution typing of Y-chromosomal binary and microsatellite markers first to test for male genetic structure in the Polish population before massive human resettlements in the mid-20th century, and second to verify if the observed present-day genetic differentiation between the Polish and German paternal lineages is a direct consequence of the WWII or it has rather resulted from a genetic barrier between peoples with distinct linguistic backgrounds. The study further focuses on providing an answer to the origin of the expansion of the Slavic language in early medieval Europe. For the purpose of our investigation, we have sampled three pre-WWII Polish regional populations, three modern German populations (including the Slavic-speaking Sorbs) and a modern population of Slovakia. …
AMOVA in the studied populations revealed statistically significant support for two linguistically defined groups of populations in both haplogroup and haplotype distributions (Table 2). It also detected statistically significant genetic differentiation for both haplogroups and haplotypes in three Polish pre-WWII regional populations (Table 2). The AMOVA revealed small but statistically significant genetic differentiation between the Polish pre-war and modern populations (Table 2). When both groups of populations were tested for genetic structure separately, only the modern Polish regional samples showed genetic homogeneity (Table 2). Regional differentiation of 10-STR haplotypes in the pre-WWII populations was retained even if the most linguistically distinct Kashubian speakers were excluded from the analysis (RST=0.00899, P=0.01505; data not shown). Comparison of Y chromosomes associated with etymologically Slavic and German surnames (with frequencies provided in Table 1) did not reveal genetic differentiation within any of the three Polish regional populations for all three (FST, ΦST and RST) genetic distances. Moreover, the German surname-related Y chromosomes were comparably distant from Bavaria and Mecklenburg as the ones associated with the Slavic surnames (Supplementary Figure S2). MDS of pairwise genetic distances showed a clear-cut differentiation between German and Slavic samples (Figure 2). In addition, the MDS analysis revealed the pre-WWII populations from northern, central and southern Poland to be moderately scattered in the plot, on the contrary to modern Polish regional samples, which formed a very tight, homogeneous cluster (Figure 3).
This all seems very reasonable. Modern Poland is probably more homogenous than pre-war Poland in part because modern Poles have cars and trains and can marry people from other parts of Poland much more easily than pre-war Poles could, and possibly because the war itself reduced Polish genetic diversity and displaced much of the population.
Genetic discontinuity along the Polish-German border also makes sense, as national, cultural, and linguistic boundaries all make intermarriage more difficult.
The Discussion portion of this paper is very interesting; I shall quote briefly:
Kayser et al3 revealed significant genetic differentiation between paternal lineages of neighbouring Poland and Germany, which follows a present-day political border and was attributed to massive population movements during and shortly after the WWII. … it remained unknown whether Y-chromosomal diversity in ethnically/linguistically defined Slavic and German populations, which used to be exposed to intensive interethnic contacts and cohabit ethnically mixed territories, was clinal or discontinuous already before the war. In contrast to the regions of Kaszuby and Kociewie, which were politically subordinated to German states for more than three centuries and before the massive human resettlements in the mid-20th century occupied a narrow strip of land between German-speaking territories, the Kurpie region practically never experienced longer periods of German political influence and direct neighbourhood with the German populations. Lusatia was conquered by Germans in the 10th century and since then was a part of German states for most of its history; the modern Lusatians (Sorbs) inhabit a Slavic-speaking island in southeastern Germany. In spite of the fact that these four regions differed significantly in exposure to gene flow with the German population, our results revealed their similar genetic differentiation from Bavaria and Mecklenburg. Moreover, admixture estimates showed hardly detectable German paternal ancestry in Slavs neighbouring German populations for centuries, that is, the Sorbs and Kashubes. However, it should be noted that our regional population samples comprised only individuals of Polish and Sorbian ethnicity and did not involve a pre-WWII German minority of Kaszuby and Kociewie, which owing to forced resettlements in the mid-20th century ceased to exist, and also did not involve Germans constituting since the 19th century a majority ethnic group of Lusatia. Thus, our results concern ethnically/linguistically rather than geographically defined populations and clearly contrast the broad-scale pattern of Y-chromosomal diversity in Europe, which was shown to be strongly driven by geographic proximity rather than by language.1 …
Two main factors are believed to be responsible for the Slavic language extinction in vast territories to the east of the Elbe and Saale rivers: colonisation of the region by the German-speaking settlers, known in historical sources as Ostsiedlung, and assimilation of the local Slavic populations, but contribution of both factors to the formation of a modern eastern German population used to remain highly speculative.8 Previous studies on Y-chromosomal diversity in Germany by Roewer et al17 and Kayser et al3 revealed east–west regional differentiation within the country with eastern German populations clustering between western German and Slavic populations but clearly separated from the latter, which suggested only minor Slavic paternal contribution to the modern eastern Germans. Our ancestry estimates for the Mecklenburg region (Supplementary Table S3) and for the pooled eastern German populations, assessed as being well below 50%, definitely confirm the German colonisation with replacement of autochthonous populations as the main reason for extinction of local Slavic vernaculars. The presented results suggest that early medieval Slavic westward migrations and late medieval and subsequent German eastward migrations, which outnumbered and largely replaced previous populations, as well as very limited male genetic admixture to the neighbouring Slavs (Supplementary Table S4), were likely responsible for the pre-WWII genetic differentiation between Slavic- and German-speaking populations. Woźniak et al18 compared several Slavic populations and did not detect such a sharp genetic boundary in case of Czech and Slovak males with genetically intermediate position between other Slavic and German populations, which was explained by early medieval interactions between Slavic and Germanic tribes on the southern side of the Carpathians. Anyway, paternal lineages from our Slovak population sample were genetically much closer to their Slavic than German counterparts. …
Note that they are discussing paternal ancestry. This does not rule out the possibility of significant Slavic maternal ancestry. Finally:
Our coalescence-based divergence time estimates for the two isolated western Slavic populations almost perfectly match historical and archaeological data on the Slavs’ expansion in Europe in the 5th–6th centuries.4 Several hundred years of demographic expansion before the divergence, as detected by the BATWING, support hypothesis that the early medieval Slavic expansion in Europe was a demographic event rather than solely a linguistic spread of the Slavic language.
I left out a lot of interesting material, so I recommend reading the complete discussion if you want to know more about Polish/German genetics.
Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania-Kujawy region; n = 436) and Russians (from three different regions of the European part of Russia; n = 201)… The classification of mitochondrial haplotypes revealed the presence of all major European haplogroups, which were characterized by similar patterns of distribution in Poles and Russians. An analysis of the distribution of the control region haplotypes did not reveal any specific combinations of unique mtDNA haplotypes and their subclusters that clearly distinguish both Poles and Russians from the neighbouring European populations. The only exception is a novel subcluster U4a within subhaplogroup U4, defined by a diagnostic mutation at nucleotide position 310 in HVS II. This subcluster was found in common predominantly between Poles and Russians (at a frequency of 2.3% and 2.0%, respectively) and may therefore have a central-eastern European origin. …
The analysis of mtDNA haplotype distribution has shown that both Slavonic populations share them mainly with Germans and Finns. The following numbers of the rare shared haplotypes and subclusters were found between populations analyzed: 10% between Poles and Germans, 7.4% between Poles and Russians, and 4.5% between Russians and Germans. A novel subcluster U4-310, defined by mutation at nucleotide position 310 in HVS II, was found predominantly in common between Poles and Russians (at frequency of 2%). Given the relatively high frequency and diversity of this marker among Poles and its low frequency in the neighbouring German and Finnish populations, we suggest a central European origin of U4-310, following by subsequent dispersal of this mtDNA subgroup in eastern European populations during the Slavonic migrations in early Middle Ages.
In other words, for the most part, Poles, Russians, Germans, and even Finns(!) (who do not speak an Indo-European language and are usually genetic outliers in Europe,) all share their maternal DNA.
Migrants, immigrants, and invaders tend disproportionately to be male (just look at any army) while women tend to stay behind. Invading armies might wipe each other out, but the women of a region are typically spared, seen as booty similar to cattle to be distributed among the invaders rather than killed. Female populations therefore tend to be sticky, in a genetic sense, persisting long after all of the men in an area were killed and replaced. The dominant Y-chromosome haplogroup in the area (R1a) hails from the Indo-European invasion (except in Finland, obviously,) but the mtDNA likely predates that expansion.
These data allow us to suggest that Europeans, despite their linguistic differences, originated in the common genetic substratum which predates the formation of the most modern European populations. It seems that considerable genetic similarity between European populations, which has been revealed by mtDNA variation studies, was further accelerated by a process of gene redistribution between populations due to the multiple migrations occurring in Europe during the past milenia…
It is interesting, though, that recent German invasions of Poland left very little in the way of a genetic contribution. I’d wager that WWII was quite a genetic disaster for everyone involved.
If you want more information, Khazaria has a nice list of studies plus short summaries on Polish DNA.