Showing posts with label ASPM. Show all posts
Showing posts with label ASPM. Show all posts

Saturday, July 11, 2020

Did women jumpstart recent cognitive evolution?



Scatter plots of frequencies of CASC5 variants by sex (Shi et al. 2017). During the last ice age, natural selection favored an increase in the gray matter of ancestral East Asians ... primarily in women.



Back in 2005 there was much interest in genes that regulate brain size, particularly in the ways they varied geographically within our species. It was found that two of these genes, Microcephalin and ASPM, continued to evolve as modern humans spread out of Africa. The latest variant of Microcephalin arose some 37,000 years ago in Eurasia and is still largely confined to the indigenous peoples of Eurasia and the Americas (Mekel-Bobrov et al. 2005). The latest variant of ASPM appeared even later, some 5,800 years in the Middle East (Evans et al. 2005).


Interest fell off when no association could be shown between the new variants and IQ or brain size (Mekel-Bobrov et al. 2007; Rushton et al. 2007; see also Frost 2020). Since then, we have learned that the new ASPM variant is associated with a larger cerebral cortex, and not a larger brain as a whole. Overall brain volume seems to be constrained in modern humans, perhaps by the breadth of a woman's pelvis during childbirth or simply by the high metabolic costs of brain tissue (Ali and Meier 2008; Frost 2020). As for the lack of an association with IQ, we now know that IQ correlates poorly or not at all with some cognitive abilities, like executive function and face recognition.


But what do the new variants actually do? Perhaps a specialized mental task.  It has been suggested that the new ASPM variant assists the brain in processing non-tonal language or alphabetical script (Dediu and Ladd 2007; Frost 2007).



CASC5, another gene for brain growth


Interest has since grown in another gene that regulates brain growth, CASC5. Like Microcephalin and ASPM, it has undergone recent evolution in the modern human lineage:


[...] the CASC5 gene contains mutations in modern humans, but not in Denisovans (Meyer et al. 2012) and this gene also shows distinct sequence divergence between modern humans and Neanderthals (Prufer et al. 2014). These data suggest that CASC5 is an important gene for human neurogenesis, and may harbor modern human specific mutations contributing to the recent evolutionary change of the human brain. (Shi et al. 2017)

Shi et al. (2017) found evidence of recent evolutionary change. Specifically, two nucleotides of CASC5 have been replaced with a new variant in all modern humans. Six other nucleotides have become polymorphic, with some people having the new variants and others not. These polymorphisms show regional differences:


- In four of the polymorphisms, the new variant has a much higher frequency in East Asians than in Europeans or Africans.

- In one polymorphism, it has a much higher frequency in Europeans than in the other two regional groups.

- The remaining polymorphism shows no differences in frequency between the three regional groups.


By and large, the new variants have been under strong positive selection, particularly among East Asians. When the authors examined the six polymorphisms, they found signals of selection for five of them in East Asians and for one in Europeans.



The new variants and brain characteristics


The authors then looked for correlations between the new variants and certain characteristics of the brain, specifically total brain volume, gray matter volume, and white matter volume. To this end, 267 healthy participants were recruited for brain imaging (Han Chinese, 178 females and 89 males, mean age 35.4 ± 12.5 years). All of them were free from mental disorders, drug abuse, alcohol dependence, and brain injury.


Gray matter was significantly larger in participants with the new variant than in those with the ancestral variant at five of the nucleotide sites, including the four polymorphic ones—the same ones that showed differences in variant frequency between East Asians and Europeans. When the authors examined the one polymorphism whose variants were equally common in East Asians, Europeans, and Africans, they found no brain differences between participants with the new variant and those with the ancestral one.


When the authors broke their data down by sex, they found that the new variants were significantly associated with a higher volume of gray matter only in women, not in men, although men seemed to trend in the same direction. The authors suggest that this effect would be significant in men if the number of male participants were larger. Probably. But it seems to me there would still be a sex difference, the number of participants being already large enough.



Ice age origin of the new variants


The authors say the new variants became prevalent "after modern humans migrated out of Africa less than 100,000 years ago." We can narrow down the time range further. The new variants are also present at high frequencies among the indigenous peoples of North and South America; therefore, they must have become prevalent before ancestral Amerindians crossed into North America some 12,000 years ago, apparently in a population that was ancestral both to Amerindians and to East Asians. That would be long before the time of recorded history and even before the Holocene, at a time when northern Eurasia was experiencing glacial conditions.


Did those conditions select for cognitive ability? Cold, seasonal environments did impose new cognitive demands on early modern humans, first by increasing their need to plan ahead over a yearly cycle and second by providing them with new tasks: garment making, needlework, weaving, leatherworking, and kiln operation. Women performed those tasks because the environment offered them few opportunities for food gathering—the usual female activity before the advent of farming. They thus moved into artisanal tasks that not only required greater cognitive ability but also offered much potential for further development. This was the "original industrial revolution" and it was led by women (Frost 2019a).


We can better understand this sexual division of labor by studying northern hunter-gatherers of recent times. According to a cross-cultural study, if women are less involved in food gathering, they specialize in activities unrelated to food procurement, i.e., house building, leatherworking, and burden carrying (Waguespack 2005). A study of two Inuit groups found the highest degree of technological complexity in garment making and shelter building, both of which are wholly or largely women's work (Oswalt 1976). Cold environments thus change the sexual division of labor among hunter-gatherers in a crucial way: while men continue to be food providers, women develop new technologies.


These findings may explain the recent evolution of CASC5: women were the focus of selection for cognitive ability during Ice Age times. But why was the selection stronger among ancestral East Asians than among ancestral Europeans? It looks like the climate at that time was more severe in northern Asia than in northern Europe. Europe benefited from the moderating influence of the Atlantic, which made for a milder and moister climate. Conditions were much colder and drier in northern Asia.


The evolution of human intelligence cannot be reduced to a single unified theory. Cold environments emancipated women from the mental straitjacket of food gathering, thus putting humans on the path to social complexity. That path, however, would take them to latitudes farther south in temperate and even tropical environments where they would be exposed to new cognitive demands. With the end of hunting, men moved not only into farming but also into the artisanal activities that women had developed. The same period saw a decline in brain volume that was greater in women than in men—an indication that cognitive demands were particularly high before the Holocene, and even more so for women (Frost 2019b).


The Holocene thus saw northern populations expand southward and eventually cover almost all of Eurasia, North Africa, Oceania, and the Americas. Those populations had a cognitive advantage that made them better able to exploit the social complexity emerging farther south. This point was made by Darwin's colleague Alfred Russel Wallace:


So when a glacial epoch comes on, some animals must acquire warmer fur, or a covering of fat, or else die of cold. Those best clothed by nature are, therefore, preserved by natural selection. Man, under the same circumstances, will make himself warmer clothing, and build better houses; and the necessity of doing this will react upon his mental organisation and social condition [...] a hardier, a more provident, and a more social race would be developed, than in those regions where the earth produces a perennial supply of vegetable food, and where neither foresight nor ingenuity are required to prepare for the rigours of winter. And is it not the fact that in all ages, and in every quarter of the globe, the inhabitants of temperate have been superior to those of tropical countries? All the great invasions and displacements of races have been from North to South, rather than the reverse.


References


Ali, F. and R. Meier. (2008). Positive selection in ASPM is correlated with cerebral cortex evolution across primates but not with whole brain size. Molecular Biology and Evolution 25(11): 2247-2250.


Dediu, D., and R. Ladd. (2007). Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin. Proceedings of the National Academy of Sciences 104(26): 10944-10949


Evans, P. D., Gilbert, S. L., Mekel-Bobrov, N., Vallender, E. J., Anderson, J. R., Vaez-Azizi, L. M., et al. (2005). Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 309: 1717-1720.


Frost, P. (2007). The spread of alphabetical writing may have favored the latest variant of the ASPM gene. Medical Hypotheses 70: 17-20.


Frost, P. (2019a). The Original Industrial Revolution. Did Cold Winters Select for Cognitive Ability? Psych 1(1): 166-181


Frost, P. (2019b). Why did brain size decrease after the ice age? Evo and Proud, July 6


Frost, P. (2020). A second look at ASPM. Evo and Proud, April 14


Mekel-Bobrov, N., S.L. Gilbert, P.D. Evans, E.J. Vallender, J.R. Anderson, R.R. Hudson, S.A. Tishkoff and B.T. Lahn. (2005). Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 309: 1720-1722


Mekel-Bobrov, N., D. Posthuma, S.L. Gilbert, P. Lind, M.F. Gosso, et al. (2007). The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. Human Molecular Genetics 16(6): 600-608.


Oswalt, W.H. (1976). An Anthropological Analysis of Food-Getting Technology, 1st ed.; John Wiley and Sons: New York, NY, USA.


Rushton, J.P., P.A. Vernon, and T.A. Bons. (2007). No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism. Biology Letters-UK 3(2): 157-60.


Shi, L., Hu, E., Wang, Z. et al. (2017). Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution. Human Genetics 136: 193-204. https://doi.org/10.1007/s00439-016-1748-5


Waguespack, N.M. (2005). The organization of male and female labor in foraging societies: Implications for early Paleoindian archaeology. American Anthropologist 107: 666-676.


Wallace, A.R. (1864). The Origin of Human Races and the Antiquity of Man deduced from the Theory of "Natural Selection." Journal of the Anthropological Society of London, 2, clviii-clxxxvii, Alfred Russel Wallace Classic Writings. Paper 6. http://digitalcommons.wku.edu/dlps_fac_arw/6



Tuesday, April 14, 2020

A second look at ASPM



Worldwide frequency of the new ASPM variant (Mekel-Bobrov et al. 2007)



Fifteen years ago, Science published a major finding: the human brain was still evolving well after the dawn of history. This could be seen in the evolution of ASPM, a gene that severely reduces brain size if it fails to function during development.

Here, we show that one genetic variant of ASPM in humans arose merely about 5800 years ago and has since swept to high frequency under strong positive selection. These findings, especially the remarkably young age of the positively selected variant, suggest that the human brain is still undergoing rapid adaptive evolution. (Mekel-Bobrov et al. 2007)

This variant seems to have come from the Middle East, where it is most prevalent today (37-52%). Its prevalence is next highest in Europe (38-50%). It is much less common in East Asia (0-25%) and virtually absent almost everywhere else.

Interest waned in the subject when several researchers found no association between the new variant and IQ scores or brain size (Mekel-Bobrov et al. 2007; Rushton et al. 2007). At the time it was widely thought, notably by J. Philippe Rushton, that IQ covers all aspects of mental effort. When I asked him whether the researchers had measured mental endurance, he replied: "No, they just used the standard IQ tests, head circumference, and (in our case) a test of altruism. [...] Generally there isn't thought to be much left to be explained after g is taken out."

This view has since been called into question. Some cognitive abilities correlate poorly with IQ, like executive function (Arffa 2007). Others show no correlation at all, like face recognition (Zhu et al. 2010). Furthermore, there has been growing evidence that the different ASPM variants of modern humans affect only some parts of the brain, and not the entire brain. According to a comparative study of primate species, the evolution of ASPM does not correlate with major changes in the whole brain or in cerebellum size: 

Particularly striking is the result that only major changes of cerebral cortex size and not major changes in whole brain or cerebellum size are associated with positive selection in ASPM. This is consistent with an expression report indicating that ASPM's expression is limited to the cerebral cortex of the brain (Bond et al. 2002). Our findings stand in contrast to recent null findings correlating ASPM genotypes with human brain size variation. Those studies used the relatively imprecise phenotypic trait of whole brain instead of cerebral cortex size (Rushton, Vernon, and Bons 2006; Woods et al. 2006; Thimpson et al. 2007). Although previous studies have shown that parts of the brain scale strongly with one another and especially with whole brain (e.g., Finlay and Darlington 1995), evidence here suggests that different brain parts still have their own evolutionary and functional differentiation with unique genetic bases. (Ali and Meier 2008)

Another comparative study found that ASPM had undergone accelerated change in chimpanzee, bonobo, and human lineages. Perhaps more interestingly, the effects were confined to development of the cerebral cortex:

Our findings indicate that ASPM variation is potentially associated with cerebral ventricular volume in chimpanzees, but not with any of the other brain structure measures. Ventricles are a critical site of neuronal proliferation in early development. Furthermore, the cerebrospinal fluid which circulates through the ventricles throughout life carries proteins that play important roles in central nervous system development and maintenance, like Sonic Hedgehog protein and Insulin-like Growth Factor 2.

Sonic Hedgehog protein?

Thus, variation in ventricular volume may affect the circulation of growth factors that could potentially influence the regulation of cerebral cortical development. Alternatively, because ASPM has a significant effect on neural progenitor cycling along the ventricles in fetal life, the association shown in our study may be a result of how brain size is patterned by ASPM during neurogenesis in early development. It has been shown that ASPM plays a role in regulating the affinity of ventricular radial glial cells (VRGs) for the ventricular surface. (Singh et al. 2019)

While there is also a broader role in brain development and brain size, it is usually limited to extreme cases, like microcephaly:

The abundance of ASPM mutations in human patients with microcephaly suggests that the gene plays a significant role in the regulation of brain size; however, variation in the gene has not always shown direct impact on brain circumference, volume, and intelligence in non-pathological populations. It is possible that ASPM interacts with other genes to affect brain volume, and thus associations depend on genetic background. Furthermore, selective pressure on ASPM may be associated with other aspects of neuronal function that do not lead to overt changes in brain structure, or might have a pleiotropic effect in other areas of the body, as ASPM is also expressed outside of the brain (Singh et al. 2019)


Possible explanations for the new ASPM variant

Shift from tonal to nontonal language?

So what made the new ASPM variant so successful? Two British researchers, Dan Dediu and D. Robert Ladd argue that it was a shift from tonal to non-tonal language. After showing that nontonality correlates geographically with the new ASPM variant (and also a new variant of the Microcephalin gene), they note that "the fact that nontonality is associated with the derived haplogroups suggests that tone is phylogenetically older and that the bias favors nontonality" (Dediu Ladd 2007).

If this is true, tonality gave way to nontonality in the Middle East when the new ASPM variant arose there some six thousand years ago. Yet we have no evidence of such a shift. Furthermore, languages have usually evolved from nontonality to tonality: "it seems to be the dominant view in the literature that tones arose from a toneless state" (Abramson 2004).

Spread of alphabetical writing?

I have argued for another explanation: the new ASPM variant was successful because it somehow assisted a mental task that originated in the Middle East some six thousand years ago and then spread into Europe. The task was alphabetical writing, specifically the mental process of transcribing speech and copying texts into alphabetical characters. Though more easily learned than ideographs, these characters place higher demands on the mind, especially under premodern conditions (continuous text with little or no punctuation, real-time stenography, absence of automated assistance for publishing or copying, etc.). This task was largely assigned to scribes of various sorts who enjoyed privileged status and probably superior reproductive success, thereby spreading the new ASPM variant throughout the population (Frost 2007).


Conclusion

For a brief time, over a decade ago, it seemed we had hard evidence that the human brain was still evolving during the time of recorded history. That evidence was soon rejected and largely forgotten, ironically through the efforts of J. Philippe Rushton. It didn't fit his model. As he saw it, if something fails to correlate with IQ, specifically with the g factor, it cannot be a cognitive ability and is unworthy of interest. 

Rushton was also held back by the idea that human evolution had largely ended with the end of the last ice age. Though intrigued by the contrary idea of ongoing human evolution, he never brought it into his theoretical work and generally treated it like an unwanted strip of film on a cutting-room floor.


References

Abramson, A.S. (2004). The plausibility of phonetic explanations of tonogenesis. In: Fant, G., Fujisaki, H., Cao, J., Xu, Y. (Eds.), From traditional phonology to modern speech processing: Festschrift for Professor Wu Zongji's 95th birthday. Beijing: Foreign Language Teaching and Research Press, 17-29.
http://www.haskins.yale.edu/Reprints/HL1336.pdf

Ali, F. and R. Meier. (2008). Positive selection in ASPM is correlated with cerebral cortex evolution across primates but not with whole brain size. Molecular Biology and Evolution 25(11): 2247-2250.
http://www.haskins.yale.edu/Reprints/HL1336.pdf

Arffa, S. (2007). The relationship of intelligence to executive function and non-executive function measures in a sample of average, above average, and gifted youth. Archives of Clinical Neuropsychology 22(8): 969-978
https://academic.oup.com/acn/article/22/8/969/3025 

Dediu, D., and R. Ladd. (2007). Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin. Proceedings of the National Academy of Sciences 104(26):10944-10949
https://langev.com/pdf/dediu07linguisticTonePNAS.pdf

Frost, P. (2007). The spread of alphabetical writing may have favored the latest variant of the ASPM gene. Medical Hypotheses 70: 17-20.
http://www.sciencedirect.com/science/article/pii/S0306987707003234

Frost, P. (2008). Decoding the ASPM puzzle. Evo and Proud, August 27
http://evoandproud.blogspot.com/2008/08/decoding-aspm-puzzle.html  

Mekel-Bobrov, N., S.L. Gilbert, P.D. Evans, E.J. Vallender, J.R. Anderson, R.R. Hudson, S.A. Tishkoff and B.T. Lahn. (2005). Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 309: 1720-1722
https://www.researchgate.net/publication/7611130_Ongoing_Adaptive_Evolution_of_ASPM_a_Brain_Size_Determinant_in_Homo_Sapiens  
Mekel-Bobrov, N., D. Posthuma, S.L. Gilbert, P. Lind, M.F. Gosso, et al. (2007). The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. Human Molecular Genetics 16(6): 600-608.
https://academic.oup.com/hmg/article/16/6/600/610971

Rushton, J.P., P.A. Vernon, and T.A. Bons. (2007). No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism. Biology Letters-UK 3(2):157-60.
https://royalsocietypublishing.org/doi/full/10.1098/rsbl.2006.0586 

Singh, S.V., N. Staes, E.E. Guevara, S.J. Schapiro, J.J. Ely, et al. (2019). Evolution of ASPM coding variation in apes and associations with brain structure in chimpanzees. Genes, Brain and Behavior 18:e12582.
https://dukespace.lib.duke.edu/dspace/bitstream/handle/10161/19252/Singh_etal2019.pdf?sequence=2

Zhang, J. (2003). Evolution of the Human ASPM Gene, a Major Determinant of Brain Size. Genetics 165(4): 2063-2070.
https://www.genetics.org/content/165/4/2063.short

Zhu, Q., Y. Song, S. Hu, X. Li, M. Tian, Z. Zhen, Q. Dong, N. Kanwisher, and J. Liu. (2010). Heritability of the specific cognitive ability of face perception. Current Biology 20(2): 137-142.
https://www.sciencedirect.com/science/article/pii/S096098220902123X 

Saturday, August 23, 2014

How modular is intelligence?


Great at reading or recognizing faces? You might not do so well on an IQ test. Source: Histoire naturelle générale et particulière avec la Description du Cabinet du Roy (1749) (Wikicommons)


 


The English psychologist Charles Spearman was the first to argue that a single factor, called "g," explains most of the variability in human intelligence. When observing the performance of children at school, he noticed that a child who did well in math would also do well in geography or Latin. There seemed to be a general factor that facilitates almost any kind of mental task.

Spearman did, however, acknowledge the existence of other factors that seem more task-specific:

[...] all branches of intellectual activity have in common one fundamental function (or group of functions), whereas the remaining or specific elements of the activity seem in every case to be wholly different from that in all the others. (Spearman, 1904, p. 284)

 


That is where things stood for over a century. In recent years, however, we’ve begun to identify the actual genes that contribute to intelligence. These genes are very numerous, numbering perhaps in the thousands, with each one exerting only a small effect. Many act broadly on intelligence in general and may correspond to the g factor, which seems to be a widespread property of neural tissue, perhaps cortical thickness or the integrity of white matter in the brain. Other genes act more narrowly on specific mental tasks. The ability to recognize faces, for instance, seems to have no relation at all to general intelligence. You can be great at recognizing faces while being as dumb as rocks (Zhu et al., 2009).

One way to locate these genes is through genome-wide association studies. We look at the various alleles of genes whose locations are already known, typically SNPs (single nucleotide polymorphisms), and see whether this source of variability correlates with variability in a mental trait. If we find a significant correlation, the genes for that trait must be nearby. The same kind of study can also show us how narrowly or broadly these genes act. Do they merely influence intelligence in general? Or do they provide more specific instructions? Such as how to recognize certain objects or how to react to them?

A genome-wide association study has recently shed light on various mental traits. In most cases, a common factor seems to explain about half of the genetic variability. This common factor is weakest for emotion identification, i.e., the ability to identify the emotions of other people by their facial expressions. Emotion identification actually correlates negatively with nonverbal reasoning (-0.25) and only weakly with verbal memory (0.17) and spatial reasoning (0.26). The highest correlation is with reading (0.40) and language reasoning. (0.45). Reading and language reasoning are highly intercorrelated, perhaps because they share the same mental module (Robinson et al., 2014).

This partial modularity has been confirmed by a recent twin study on reading and math ability. If we look at the genetic component of either reading or math ability, at least 10% and probably half affects performance on both tasks. Conversely, the other half is specific to either one or the other (Davis et al., 2014).

 


An evolutionary mystery?



But how can reading ability have a specific genetic basis if people began to read only in historic times? Indeed, history is said to begin with the first written documents. Surely humans weren't still evolving at that point?

To ask the question is to answer it. Not only were they still evolving, they were actually doing so at a faster pace than their prehistoric ancestors. Humans have undergone much more genetic change over the past 10,000 years than over the previous 100,000 (Hawks et al., 2007). This is a difficult fact to swallow, let alone digest, but we must learn to accept it and all of its implications.

The new findings on reading ability are consistent with other ones. The human brain has a special region, called the Visual Word Form Area, that is used to recognize written words and letters. If it is damaged, your reading ability will suffer but not your recognition of objects, names, faces, or general language abilities. There will be some improvement over the next six months, but reading will still take twice as long as it had previously. This brain region varies in size and organization from one individual to another and from one human population to another, being differently organized in Chinese people than in Europeans (Frost, 2014; Gaillard et al, 2006; Glezer and Riesenhuber, 2013; Levy et al., 2013; Liu et al., 2008).

Genome-wide association studies may help us pinpoint the actual genes responsible for the Visual Word Form Area. In fact, we may have already found one: ASPM. This gene influences brain growth in other primates and has evolved in humans right up into historic times. Its latest allele arose about 6000 years ago in the Middle East and proliferated until it reached incidences of 37-52% in Middle Easterners, 38-50% in Europeans, and 0-25% in East Asians. Despite its apparent selective advantage, this allele does not improve performance on IQ tests (Mekel-Bobrov et al.,2007; Rushton et al., 2007). It is nonetheless associated with larger brain size in humans (Montgomery and Mundy, 2010).

Its Middle Eastern origin some 6000 years ago suggests this allele may have owed its success to the invention of writing. Most people had trouble reading, writing, and copying lengthy texts in ancient times, when characters were written continuously with little or no punctuation. There was an acute need for scribes who could excel at this task, and such people were rewarded with reproductive success (Frost, 2008; Frost, 2011).

 


Conclusion



Human intelligence is modular to varying degrees, and much of this modularity seems to have arisen during historic times. It is a product of humans adapting not only to their physical environments but also to their more rapidly evolving cultural environments.

While there is such a thing as general intelligence, it seems to be only half of the picture. Two people may have the same IQ and yet differ significantly in various mental abilities. There may also be trade-offs between general intelligence and more specific mental tasks. If you're great at abstract reasoning, you may be lousy at decoding facial expressions. This may be because the two abilities compete with each other for limited mental resources. Or it may be that selection for abstract reasoning has occurred in an environment where people can trust each other and have no need to scrutinize facial expressions for signs of lying ... or imminent physical assault.

 


The same applies to human populations. Two populations may have the same mean IQ, and yet differ statistically over a large number of mental and behavioral traits. Although these differences may be scarcely noticeable if we compare two individuals taken at random from each population, their accumulative effect over many thousands of individuals can steer one population along one path of cultural evolution and the other along another. Furthermore, two populations may arrive at a similar outcome via different paths of cultural evolution and via different mental and behavioral packages. Europeans and East Asians have both reached an advanced level of societal development, but this similar outcome has been achieved in East Asian societies largely through external mediation of rule enforcement (e.g., shaming, peer pressure, family discipline) and in European ones mainly through internal means of control (e.g., guilt, empathy).

 



References

 



Davis, O.S.P., G. Band, M. Pirinen, C.M.A. Haworth, E.L. Meaburn, Y. Kovas, N. Harlaar, et al. (2014). The correlation between reading and mathematics ability at age twelve has a substantial genetic component, Nature Communications, 5

http://www.nature.com/ncomms/2014/140708/ncomms5204/full/ncomms5204.html

 



Frost, P. (2008). The spread of alphabetical writing may have favored the latest variant of the ASPM gene, Medical Hypotheses, 70, 17-20.

http://www.sciencedirect.com/science/article/pii/S0306987707003234

Frost, P. (2011). Human nature or human natures? Futures, 43, 740-748. http://dx.doi.org/10.1016/j.futures.2011.05.017 

 


Frost, P. (2014). The paradox of the Visual Word Form Area, March 1, Evo and Proud

http://evoandproud.blogspot.ca/2014/03/the-paradox-of-visual-word-form-area.html

 



Gaillard, R., Naccache, L., P. Pinel, S. Clémenceau, E. Volle, D. Hasboun, S. Dupont, M. Baulac, S. Dehaene, C. Adam, and L. Cohen. (2006). Direct intracranial, fMRI, and lesion evidence for the causal role of left inferotemporal cortex in reading, Neuron, 50, 191-204.

http://citeseerx.ist.psu.edu/viewdoc/download?doi=10.1.1.76.7620&rep=rep1&type=pdf  



Glezer, L.S. and M. Riesenhuber. (2013). Individual variability in location impacts orthographic selectivity in the "Visual Word Form Area", The Journal of Neuroscience, 33(27), 11221-11226.

http://www.jneurosci.org/content/33/27/11221.full

 



Hawks, J., E.T. Wang, G.M. Cochran, H.C. Harpending, and R.K. Moyzis. (2007). Recent acceleration of human adaptive evolution. Proceedings of the National Academy of Sciences (USA), 104, 20753-20758.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2410101/

 



Levy, J., J.R Vidal, R. Oostenveld, I. FitzPatrick, J-F. Démonet, and P. Fries. (2013). Alpha-band suppression in the Visual Word Form Area as a functional bottleneck to consciousness, NeuroImage, 78C, 33-45.

http://hal.inria.fr/docs/00/81/96/67/PDF/Levy_et_al.pdf

 



Liu, C., W-T. Zhang, Y-Y Tang, X-Q. Mai, H-C. Chen, T. Tardif, and Y-J. Luo. (2008). The visual word form area: evidence from an fMRI study of implicit processing of Chinese characters, NeuroImage, 40, 1350-1361.

http://www.yi-yuan.net/english/PAPERS/PAPERS_2008/2008_The-Visual-Word-Form-Area-Evidence.pdf 

 



Mekel-Bobrov, N., Posthuma, D., Gilbert, S. L., Lind, P., Gosso, M. F., Luciano, M., et al. (2007). The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence, Human Molecular Genetics, 16, 600-608.

http://psych.colorado.edu/~carey/pdfFiles/ASPMMicrocephalin_Lahn.pdf 

 



Montgomery, S. H., and N.I. Mundy. (2010). Brain evolution: Microcephaly genes weigh in, Current Biology, 20, R244-R246.

http://www.sciencedirect.com/science/article/pii/S0960982210000862 

 



Robinson, E.B., A. Kirby, K. Ruparel, J. Yang, L. McGrath, V. Anttila, B.M. Neale, K. Merikangas, T. Lehner, P.M.A. Sleiman, M.J. Daly, R. Gur, R. Gur and H. Hakonarson. (2014). The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort, Molecular Psychiatry, published online July 15

http://www.nature.com/mp/journal/vaop/ncurrent/full/mp201465a.html



Rushton, J. P., Vernon, P. A., and Bons, T. A. (2007). No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism, Biology Letters, 3, 157-160.

http://semantico-scolaris.com/media/data/Luxid/Biol_Lett_2007_Apr_22_3(2)_157-160/rsbl20060586.pdf

Spearman, C. (1904). "General intelligence," objectively determined and measured, The American Journal of Psychology, 15, 201-292.

http://www.jstor.org/stable/1412107

Zhu, Q., Song, Y., Hu, S., Li, X., Tian, M., Zhen, Z., Dong, Q., Kanwisher, N. and Liu, J. (2009). Heritability of the specific cognitive ability of face perception, Current Biology, 20, 137-142.

http://web.mit.edu/bcs/nklab/media/pdfs/Zhu_et_al_Heritability.pdf

Saturday, July 26, 2014

A new start


 
When geneticist Davide Piffer examined IQ-enhancing alleles at seven different genes, he found that their average prevalence differed among human populations, being highest in East Asians and lowest in Mbuti Pygmies (photo used with author's approval)

 


My weekly posts are now appearing on The Unz Review (http://www.unz.com/). By accepting Ron's invitation, I hope to reach a bigger audience and bring myself closer to other writers in the area of human biodiversity. When people work together, or simply alongside each other, minor differences can be ironed out and major differences narrowed or at least accepted good-naturedly. One thing I've learned is that academic debate can leave a legacy of hurt feelings. The impersonal can become personal, partly because people feel attached to their views and partly because views themselves can have personal impacts.

Working together also creates synergy. It becomes easier to identify research priorities, contact interested researchers, and end up with publishable findings. At present, most HBD research involves trawling through the literature and offering new interpretations. That's fine, but we need lab work as well. This point came up in a 2006 interview with geneticist Bruce Lahn:
 
A lot of researchers studying human population genetics and evolution are strictly data miners (i.e., they generate/publish no original data). There are limitations to such an approach, as it depends on the available data and prevents certain analyses from being performed. Do you expect to see more research groups turning into pure data mining labs in the future? Or will there still be a place for independent labs generating their own data (for example, resequencing a gene in multiple individuals to study the polymorphism)?

Given the explosion of genomic data in the last decade or so, which shows no sign of slowing down any time soon, there is likely to be a proliferation of pure data miners just because there is a niche for them. But I suspect that many interesting findings will still require the combination of data mining and wet experiments to provide key pieces of data not already available in public databases. In this regard, labs that can do both data mining and wet experiments can have an advantage over labs that can only do data mining. (Gene Expression, 2006)

Lab work will probably have to be offshored, not because it's cheaper to do elsewhere but because the "free world" is no longer the best place for unimpeded scientific inquiry.  A Hong Kong team is conducting a large-scale investigation into the genetics of intelligence, and nothing comparable is being done in either North America or Western Europe. Cost isn't the reason.

A few suggestions for research:

 


Human variation in IQ-enhancing alleles

We know that human intellectual capacity has risen through small incremental changes at very many genes, probably hundreds if not thousands. Have these changes been the same in all populations?

Davide Piffer (2013) has tried to answer this question by using a small subset of these genes. He began with seven SNPs whose different alleles are associated with differences in performance on PISA or IQ tests. Then, for fifty human populations, he looked up the prevalence of each allele that seems to increase performance. Finally, for each population, he calculated the average prevalence of these alleles at all seven genes.

The average prevalence was 39% among East Asians, 36% among Europeans, 32% among Amerindians, 24% among Melanesians and Papuan-New Guineans, and 16% among sub-Saharan Africans. The lowest scores were among San Bushmen (6%) and Mbuti Pygmies (5%). A related finding is that all but one of the alleles are specific to humans and not shared with ancestral primates.

Yes, he was using a small subset of genes that influence intellectual capacity. But you don't need a big number to get the big picture. If you dip your hand into a barrel of differently colored jelly beans, the colors you see in your hand will match well enough what's in the barrel. In any case, if the same trend holds up with a subset of 50 or so genes, it will be hard to say it's all due to chance.

 


Interaction between age and intellectual capacity

These population differences seem to widen after puberty, as Franz Boas noted a century ago (Boas, 1974, p. 234). It may be that general intelligence was largely confined to early childhood in ancestral humans, as a means to integrate information during the time of life when children become familiar with their surroundings. With increasing age, and familiarity, this learning capacity would shut down. When modern humans began to enter environments that had higher cognitive demands, natural selection may have favored retention of general intelligence in adulthood, just as it favored retention of the capacity to digest lactose wherever adults raised dairy cattle and drank milk.

After doing a principal component analysis on covariance between the above IQ-enhancing alleles and performance on IQ and Pisa tests, Piffer (2013) was able to identify three alleles that show the highest loading on the first component. Ward et al. (2014) have found that possession of these three alleles correlates with educational performance of 13 to 14 year old children. We now have a tool to measure the interaction between genes and age in the development of intellectual capacity, particularly during the critical period extending from pre-puberty to early adulthood.

 


Convergent evolution

Some human populations seem to have arrived at similar outcomes through different evolutionary trajectories. East Asians, for instance, resemble Western Europeans in their level of societal development, but this similar outcome has been achieved through a different mental and behavioral package, specifically lower levels of guilt and empathy with correspondingly higher levels of shame and prosocial behavior. In short, East Asians tend to enforce social rules more by external mediation (e.g., shaming, peer pressure, family discipline) than by internal control (e.g., guilt, empathy).

This difference probably reflects a mix of learned and innate predispositions, since natural selection favors whatever works, regardless of how hardwired it may or may not be. To the extent that these predispositions are hardwired, East Asians may be less able to cope with the sort of aloneness, anonymity, and individualism we take for granted.

It would be easy enough to study the neurological effects of social isolation on East Asians, and there is already suggestive evidence that such effects include unusual outbursts of psychotic behavior. It would be harder, however, to determine whether this malfunctioning has a heritable component.

 


Microcephalin - Why does its Eurasian allele increase brain volume?

Almost a decade ago, Bruce Lahn was among those who discovered that a gene involved in brain growth, Microcephalin, continued to evolve after modern humans had spread out of Africa. Its most recent allele arose some 37,000 years ago in Eurasia and is still largely confined to native Eurasians and Amerindians (Evans et al., 2005). Interest in this finding evaporated when no significant correlation was found between the Eurasian allele and higher scores on IQ tests (Mekel-Bobrov et al, 2007; Rushton et al., 2007). Nonetheless, a later study showed that this allele correlates with increased brain volume (Montgomery and Mundy, 2010).

The time of origin corresponds to the entry of modern humans into seasonal temperate environments. It also corresponds to the beginnings of Upper Paleolithic art—realistic 3D representations of game animals on stone, clay, bone, and ivory. The common denominator seems to be an increased capacity to store spatiotemporal information, i.e., the ability to imagine objects, particularly game animals, and how they move over space and time. If IQ tests fail to measure this capacity, it may be worthwhile to test carriers of this allele for artistic or map-reading skills.

 


ASPM - Does the Middle Eastern/West Eurasian allele assist processing of alphabetical script?

ASPM is another gene that regulates brain growth, and like Microcephalin it continued to evolve after modern humans had spread out of Africa, its latest allele arising about 6000 years ago somewhere in the Middle East. The new allele then proliferated within and outside this region, reaching higher incidences in the Middle East (37-52%) and in Europe (38-50%) than in East Asia (0-25%). Despite its apparent selective advantage, this allele does not seem to improve cognitive performance on standard IQ tests. On the other hand, there is evidence that it is associated with increased brain size (Montgomery and Mundy, 2010).

At present, we can only say that it probably assists performance on a task that exhibited the same geographic expansion from a Middle Eastern origin roughly 6000 years ago. The closest match seems to be the invention of alphabetical writing, specifically the task of transcribing speech and copying texts into alphabetical script. Though more easily learned than ideographs, alphabetical characters place higher demands on mental processing, especially under premodern conditions (continuous text with little or no punctuation, real-time stenography, absence of automated assistance for publishing or copying, etc.). This task was largely delegated to scribes of various sorts who enjoyed privileged status and probably superior reproductive success. Such individuals may have served as vectors for spreading the new ASPM allele (Frost, 2008; Frost, 2011).

 


Tay Sachs and IQ

Ashkenazi Jews have high incidences of certain neurological conditions, particularly Tay Sachs, Gaucher's disease, and Niemann-Pick disease. In the homozygous state these conditions are deleterious, but in the heterozygous state they may improve intellectual capacity by increasing neural axis length and branching. Cochran et al. (2006) argue that this improvement could amount to about 5 IQ points.

There was in fact a study in the 1980s to determine whether Tay-Sachs heterozygotes suffer from mental deficits (Kohn et al., 1988). The authors found no deficits but did not elaborate on whether performance was above-normal on the neuropsychological tests. They did mention that about two thirds of the Tay-Sachs heterozygotes had education beyond high school.

The raw data seem to be long gone, but it would not be difficult to repeat the study with a view to studying above-normal mental performance in heterozygotes and non-carriers.

 


References

Boas, F. (1974). A Franz Boas Reader. The Shaping of American Anthropology, 1883-1911, G.W. Stocking Jr. (ed.), Chicago: The University of Chicago Press.

 


Cochran, G., J. Hardy, and H. Harpending. (2006). Natural history of Ashkenazi intelligence, Journal of Biosocial Science, 38, 659-693.

http://harpending.humanevo.utah.edu/trial.link/Ashkenazi.pdf

 



Evans, P. D., Gilbert, S. L., Mekel-Bobrov, N., Vallender, E. J., Anderson, J. R., Vaez-Azizi, L. M., et al. (2005). Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans, Science, 309, 1717-1720.

http://www.fed.cuhk.edu.hk/~lchang/material/Evolutionary/Brain%20gene%20and%20race.pdf

 



Frost, P. (2008). The spread of alphabetical writing may have favored the latest variant of the ASPM gene, Medical Hypotheses, 70, 17-20.

http://www.sciencedirect.com/science/article/pii/S0306987707003234

Frost, P. (2011). Human nature or human natures? Futures, 43, 740-748. http://dx.doi.org/10.1016/j.futures.2011.05.017

 


Gene Expression. (2006). 10 Questions for Bruce Lahn.

http://www.gnxp.com/blog/2006/10/10-questions-for-bruce-lahn_10.php

Kohn, H., P. Manowitz, M. Miller, and A. Kling. (1988). Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy, Human Genetics, 79, 8-12.

 


Mekel-Bobrov, N., Posthuma, D., Gilbert, S. L., Lind, P., Gosso, M. F., Luciano, M., et al. (2007). The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence, Human Molecular Genetics, 16, 600-608.

http://psych.colorado.edu/~carey/pdfFiles/ASPMMicrocephalin_Lahn.pdf

 



Montgomery, S. H., and N.I. Mundy. (2010). Brain evolution: Microcephaly genes weigh in, Current Biology, 20, R244-R246.

http://www.sciencedirect.com/science/article/pii/S0960982210000862

 



Piffer, D. (2013). Factor analysis of population allele frequencies as a simple, novel method of detecting signals of recent polygenic selection: The example of educational attainment and IQ, Mankind Quarterly, 54, 168-200.

http://emilkirkegaard.dk/en/wp-content/uploads/Factor-Analysis-of-Population-Allele-Frequencies-as-a-Simple-Novel-Method-of-Detecting-Signals-of-Recent-Polygenic-Selection-The-Example-of-Educational-Attainment-and-IQ.pdf 

 



Rushton, J. P., Vernon, P. A., and Bons, T. A. (2007). No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism, Biology Letters, 3, 157-160.

http://semantico-scolaris.com/media/data/Luxid/Biol_Lett_2007_Apr_22_3(2)_157-160/rsbl20060586.pdf 

 



Ward, M.E., G. McMahon, B. St Pourcain, D.M. Evans, C.A. Rietveld, et al. (2014). Genetic variation associated with differential educational attainment in adults has anticipated associations with school performance in children. PLoS ONE 9(7): e100248. doi:10.1371/journal.pone.0100248

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0100248#pone-0100248-g002