(*) It could also be J1 which is not included in the haplogroup predictor.
January 30, 2005
Modal haplotype of Tehran, Iran
The modal haplotype of Tehran, Iran in YHRD is 14-13-29-23-10-11-12-13,16 and according to the haplogroup predictor is indicative of haplogroup J2 (*). It occurs in 35 individuals in the current release, including 12 from Europe and 19 from Asia.
(*) It could also be J1 which is not included in the haplogroup predictor.
(*) It could also be J1 which is not included in the haplogroup predictor.
Modal haplotype of Zagreb, Croatia
The modal haplotype of Zagreb, Croatia in YHRD is 16-13-31-24-11-11-13-14,15 and according to the haplogroup predictor is indicative of haplogroup I1b. This haplotype occurs in 94 samples of the current release, including 89 from Europe:
It's interesting (and surprising) that this modal haplotype is not detected in Greece, even though Greece has about 10% of haplogroup I1b.
It's interesting (and surprising) that this modal haplotype is not detected in Greece, even though Greece has about 10% of haplogroup I1b.
January 29, 2005
Distribution of Moscow, Kiev and Warsaw modal haplotypes
Moscow, Kiev and Warsaw are the respective capitals of the three great Eastern European Slavic nations of Russia, Ukraine and Poland. Using YHRD I attempted to see the distribution of the modal Y-chromosomal haplotypes from these three locations.
In Moscow, the modal haplotype is 16-13-30-25-11-11-13-11,14. As expected, according to Whit Athey's haplogroup predictor, this haplotype is most indicative of haplogroup R1a. It is found in 116 individuals in the current release, including 91 from Europe and 21 from Asia:
The Kiev modal haplotype is 17-13-30-25-10-11-13-10,14 and seems to indicate haplogroup R1a as well. It is found in 130 individuals, including 126 from Europe and 2 from Asia, and in general seems to be more geographically constrained than that of Moscow, being (mostly or wholly) absent e.g., from Scandinavia, the British Isles and the Caucasus:
The Warsaw modal haplotype is the same as that of Kiev. Interestingly -as far as I can tell- the Kiev-Warsaw modal haplotype does not seem to be found in Moscow, while the Moscow modal haplotype is found in both Kiev and Warsaw.
UPDATE: The modal haplotype of the Baltic capitals of Riga, Latvia and Vilnius Lithuania seems to be the same as that of Moscow.
In Moscow, the modal haplotype is 16-13-30-25-11-11-13-11,14. As expected, according to Whit Athey's haplogroup predictor, this haplotype is most indicative of haplogroup R1a. It is found in 116 individuals in the current release, including 91 from Europe and 21 from Asia:
The Kiev modal haplotype is 17-13-30-25-10-11-13-10,14 and seems to indicate haplogroup R1a as well. It is found in 130 individuals, including 126 from Europe and 2 from Asia, and in general seems to be more geographically constrained than that of Moscow, being (mostly or wholly) absent e.g., from Scandinavia, the British Isles and the Caucasus:
The Warsaw modal haplotype is the same as that of Kiev. Interestingly -as far as I can tell- the Kiev-Warsaw modal haplotype does not seem to be found in Moscow, while the Moscow modal haplotype is found in both Kiev and Warsaw.
UPDATE: The modal haplotype of the Baltic capitals of Riga, Latvia and Vilnius Lithuania seems to be the same as that of Moscow.
January 28, 2005
Western Norwegian modal haplotype
Western Norway, being relatively remote from the European continent and the known source of Viking migrations is of special anthropological interest. It may represent a relatively untainted North Germanic gene pool, and is usually thought to be a good representative of the Norsemen of the Viking age.
The modal haplotype of W. Norway is 14-12-28-23-10-11-13-14,14 and according to Whit Athey's haplogroup predictor it is suggestive of Y-haplogroup I1a which has a well-known Northwestern European main distribution. Its prevalence in Europe (129 matches) is shown below:
The distribution of a one-step neighbor of the above (14-12-28-23-10-11-13-13,14) with 105 occurrences in Europe has the following distribution:
The modal haplotype of W. Norway is 14-12-28-23-10-11-13-14,14 and according to Whit Athey's haplogroup predictor it is suggestive of Y-haplogroup I1a which has a well-known Northwestern European main distribution. Its prevalence in Europe (129 matches) is shown below:
The distribution of a one-step neighbor of the above (14-12-28-23-10-11-13-13,14) with 105 occurrences in Europe has the following distribution:
Global prevalence of Mongolian and Kazakh modal haplotypes
Three Mongolian groups are included in the latest release of the YHRD Y-chromosomal database: Mongolia, Mongolia [Buryat], and Mongolia [Khalkh].
A search for the Mongolian modal haplotype (16-13-29-25-10-11-13-12,13) returned the following 62 matches, which seem to be confined to Altaic-speaking populations:
Ankara, Turkey: 1 / 39
Mongolia: 10 / 60
Mongolia [Khalkh]: 4 / 39
Taraz, Kazakhstan: 47 / 175
A search for the Buryat modal haplotype (16-14-30-23-10-14-14-11,13) returned the following 4 matches:
Gdansk, Poland: 1 / 543
Mongolia [Buryat] 3 / 42
The Mongolian [Khalkh] modal haplotype is the same as that of the Mongolian group, not surprising given the predominance of the Khalkh group in Mongolia.
The modal haplotype of the population from Taraz Kazakhstan is also the same as that of the Mongolian group. The Kazakhs are Altaic-speaking and exhibit the Turanid (mixed Caucasoid-Mongoloid) racial type.
A search for the Mongolian modal haplotype (16-13-29-25-10-11-13-12,13) returned the following 62 matches, which seem to be confined to Altaic-speaking populations:
Ankara, Turkey: 1 / 39
Mongolia: 10 / 60
Mongolia [Khalkh]: 4 / 39
Taraz, Kazakhstan: 47 / 175
A search for the Buryat modal haplotype (16-14-30-23-10-14-14-11,13) returned the following 4 matches:
Gdansk, Poland: 1 / 543
Mongolia [Buryat] 3 / 42
The Mongolian [Khalkh] modal haplotype is the same as that of the Mongolian group, not surprising given the predominance of the Khalkh group in Mongolia.
The modal haplotype of the population from Taraz Kazakhstan is also the same as that of the Mongolian group. The Kazakhs are Altaic-speaking and exhibit the Turanid (mixed Caucasoid-Mongoloid) racial type.
Stand up to lose weight
A new article in Science comes to the conclusion that lean individuals differ from obese ones in the amount of time they spent standing up. For a non-technical summary see The Fit Tend to Fidget, and Biology May Be Why, a Study Says and Why fidgeters tend to be leaner.
Science, Vol 307, Issue 5709, 584-586 , 28 January 2005
Interindividual Variation in Posture Allocation: Possible Role in Human Obesity
James A. Levine et al.
Obesity occurs when energy intake exceeds energy expenditure. Humans expend energy through purposeful exercise and through changes in posture and movement that are associated with the routines of daily life [called nonexercise activity thermogenesis (NEAT)]. To examine NEAT's role in obesity, we recruited 10 lean and 10 mildly obese sedentary volunteers and measured their body postures and movements every half-second for 10 days. Obese individuals were seated, on average, 2 hours longer per day than lean individuals. Posture allocation did not change when the obese individuals lost weight or when lean individuals gained weight, suggesting that it is biologically determined. If obese individuals adopted the NEAT-enhanced behaviors of their lean counterparts, they might expend an additional 350 calories (kcal) per day.
Link
Science, Vol 307, Issue 5709, 584-586 , 28 January 2005
Interindividual Variation in Posture Allocation: Possible Role in Human Obesity
James A. Levine et al.
Obesity occurs when energy intake exceeds energy expenditure. Humans expend energy through purposeful exercise and through changes in posture and movement that are associated with the routines of daily life [called nonexercise activity thermogenesis (NEAT)]. To examine NEAT's role in obesity, we recruited 10 lean and 10 mildly obese sedentary volunteers and measured their body postures and movements every half-second for 10 days. Obese individuals were seated, on average, 2 hours longer per day than lean individuals. Posture allocation did not change when the obese individuals lost weight or when lean individuals gained weight, suggesting that it is biologically determined. If obese individuals adopted the NEAT-enhanced behaviors of their lean counterparts, they might expend an additional 350 calories (kcal) per day.
Link
January 27, 2005
Distribution of Eastern European haplotype in Europe
According to the recent article on Y-STR variation in Europe, a particular haplotype, 16-13-17-25-10-11-13 (over DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) seems to be ancestral for haplogroup R1a and occurs (together with its one-step neighbors) in a frequency of 30.6% in "Eastern Europe" vs. only 0.6% in "Western Europe". This haplotype is highly suggestive of Eastern European origin.
A search of this haplotype in YHRD gave the following result:
Note that red color indicates presence of the haplotype, while blue indicates its absence. It appears that there is core Eastern European area where the haplotype is present, and this includes most (all?) Slavo-Baltic countries. In Scandinavia, the Netherlands, Belgium and the British Isles the haplotype is mostly lacking(*), which seems to indicate its likely absence in the Proto-Germanic gene pool; this is not true for Germany, Austria and Switzerland, reflecting historical contacts with Slavic and Baltic peoples. The haplotype is also mostly lacking in the Italo-Celtic world, and in the Southern Balkans, again illustrating its essentially Balto-Slavic likely origin (in most cases).
The omnipresence of the Eastern European haplotype in Balto-Slavic lands make it likely that it was part of the Proto-Balto-Slavs, and its geographical extent on the map is a rough approximation for the genetic influence of the representatives of that branch of the Indo-European family.(**)
(*) Note that two of the sites of the British Isles are of Indo-Pakistani populations where R1a achieves a high frequency and a third one is cosmopolitan London.
(**) Or possible of Indo-Iranians as the presence of the marker in the Indian subcontinent, as well as in Iran demonstrates. This influence was, however, probably minimal in Europe until recently.
A search of this haplotype in YHRD gave the following result:
Note that red color indicates presence of the haplotype, while blue indicates its absence. It appears that there is core Eastern European area where the haplotype is present, and this includes most (all?) Slavo-Baltic countries. In Scandinavia, the Netherlands, Belgium and the British Isles the haplotype is mostly lacking(*), which seems to indicate its likely absence in the Proto-Germanic gene pool; this is not true for Germany, Austria and Switzerland, reflecting historical contacts with Slavic and Baltic peoples. The haplotype is also mostly lacking in the Italo-Celtic world, and in the Southern Balkans, again illustrating its essentially Balto-Slavic likely origin (in most cases).
The omnipresence of the Eastern European haplotype in Balto-Slavic lands make it likely that it was part of the Proto-Balto-Slavs, and its geographical extent on the map is a rough approximation for the genetic influence of the representatives of that branch of the Indo-European family.(**)
(*) Note that two of the sites of the British Isles are of Indo-Pakistani populations where R1a achieves a high frequency and a third one is cosmopolitan London.
(**) Or possible of Indo-Iranians as the presence of the marker in the Indian subcontinent, as well as in Iran demonstrates. This influence was, however, probably minimal in Europe until recently.
Herculaneum and the Lost Works of Epicurus
A recent article from the Sunday Times gives an update on the current status of the uncovered library in Herculaneum where numerous Greek and Latin texts have been preserved under the ashes of Vesuvius and are being read with the use of modern technology. Worth reading in its entirety, but what struck me in particular was this sentence:
Apart from the texts of Philodemus, hundreds of other lost works of Greek philosophy — including half of Epicurus’s entire opus, missing for 2,300 years — have been rediscovered.Epicurus, a 4th c. BC Athenian philosopher was reputed to have written more than 300 books (more properly scrolls, each of our own books being contained in several scrolls) none of which survive in its entirety. Scraps of the Epicurean corpus are available online and give tantalizing hints about the philosophy of the man who more than anyone else symbolized the culmination of the naturalistic tradition of Greek philosophy. This new discovery and eventual publication of the lost works of Epicurus will eventually help us appreciate a tradition which stood opposed to that of Plato and Aristotle for centuries after the death of its founder.
January 26, 2005
Racial history of Africa
Racial Reality posts that Africa Wasn't Negroid Until Historic Times. On this topic see my older posts on Racial Affinities of Prehistoric East Africans, and The African mtDNA landscape, and Craniofacial variation of northeast Africans, Ethiopian and Yemeni mtDNA.
On an un-related note, I find BlogLines to be the most convenient aggregator for keeping track of interesting blogs.
On an un-related note, I find BlogLines to be the most convenient aggregator for keeping track of interesting blogs.
January 25, 2005
Ecological dominance, social competition
This paper examines Richard Alexander's model of "ecological dominance, social competition" as the explanation for the develoment of human intelligence. According to this model, our ancestors' mastery of the "forces of nature", or ecological dominance triggered a process of social competition. Unlike other animals whose fitness is determined by whether they can survive in nature, humans tamed their environment, and thus their fitness started being determined by how well they could socially compete with other humans. This transfer of emphasis from nature to society is the distinguishing feature of our lineage, and it can explain the complete departure of human cognitive ability from that of our hominin ancestors.
Evolution and Human Behavior
Volume 26, Issue 1 , January 2005, Pages 10-46
Ecological dominance, social competition, and coalitionary arms races
Why humans evolved extraordinary intelligence
Mark V. Flinn et al.
Abstract
Human cognitive abilities are extraordinary. Our large brains are significantly modified from those of our closest relatives, suggesting a history of intense natural selection. The conditions favoring the evolution of human cognitive adaptations, however, remain an enigma. Hypotheses based on traditional ecological demands, such as hunting or climatic variability, have not provided satisfying explanations. Recent models based on social problem solving linked with ecological conditions offer more convincing scenarios. But it has proven difficult to identify a set of selective pressures that would have been sufficiently unique to the hominin lineage. What was so special about the evolutionary environments of our ancestors that caused them, and them alone, to diverge in such astonishing ways from their close relatives and all other life forms? Richard Alexander proposed a comprehensive integrated explanation. He argued that as our hominin ancestors became increasing able to master the traditional “hostile forces of nature,” selective pressures resulting from competition among conspecifics became increasingly important, particularly in regard to social competencies. Given the precondition of competition among kin- and reciprocity-based coalitions (shared with chimpanzees), an autocatalytic social arms race was initiated, which eventually resulted in the unusual collection of traits characteristic of the human species, such as concealed ovulation, extensive biparental care, complex sociality, and an extraordinary collection of cognitive abilities. We term this scenario the “ecological dominance–social competition” (EDSC) model and assess the feasibility of this model in light of recent developments in paleoanthropology, cognitive psychology, and neurobiology. We conclude that although strong or direct tests are difficult with current data, Alexander's model provides a far-reaching and integrative explanation for the evolution of human cognitive abilities that is consistent with evidence from a wide range of disciplines.
Link
Evolution and Human Behavior
Volume 26, Issue 1 , January 2005, Pages 10-46
Ecological dominance, social competition, and coalitionary arms races
Why humans evolved extraordinary intelligence
Mark V. Flinn et al.
Abstract
Human cognitive abilities are extraordinary. Our large brains are significantly modified from those of our closest relatives, suggesting a history of intense natural selection. The conditions favoring the evolution of human cognitive adaptations, however, remain an enigma. Hypotheses based on traditional ecological demands, such as hunting or climatic variability, have not provided satisfying explanations. Recent models based on social problem solving linked with ecological conditions offer more convincing scenarios. But it has proven difficult to identify a set of selective pressures that would have been sufficiently unique to the hominin lineage. What was so special about the evolutionary environments of our ancestors that caused them, and them alone, to diverge in such astonishing ways from their close relatives and all other life forms? Richard Alexander proposed a comprehensive integrated explanation. He argued that as our hominin ancestors became increasing able to master the traditional “hostile forces of nature,” selective pressures resulting from competition among conspecifics became increasingly important, particularly in regard to social competencies. Given the precondition of competition among kin- and reciprocity-based coalitions (shared with chimpanzees), an autocatalytic social arms race was initiated, which eventually resulted in the unusual collection of traits characteristic of the human species, such as concealed ovulation, extensive biparental care, complex sociality, and an extraordinary collection of cognitive abilities. We term this scenario the “ecological dominance–social competition” (EDSC) model and assess the feasibility of this model in light of recent developments in paleoanthropology, cognitive psychology, and neurobiology. We conclude that although strong or direct tests are difficult with current data, Alexander's model provides a far-reaching and integrative explanation for the evolution of human cognitive abilities that is consistent with evidence from a wide range of disciplines.
Link
Linkage disequilibrium varies among populations
Linkage disequilibrium (LD) is said to occur when knowledge of the allele in a particular locus (gene) gives us information about the state of the allele in a different locus. That is, in a sense, these two genes are co-inherited, and this is often the case when genes are very close to each other on a chromosome (and thus the probability of them being split during meiosis is limited), or when they "work well together", making their co-occurrence more likely.
A new paper in European Journal of Human Genetics studies the extent to which LD varies among different human populations. This is an important finding since LD is often used to determine how many polymorphisms to examine. For example, if a long sequence of DNA is in LD, then typing a single SNP somewhere on it implicitly reveals the state of the entire sequence. But this may lead to mistakes if applied to a different population X for which whole sequence information is not available, as the sequence in question might not be in LD in X.
The paper confirms the lower LD in Africans than in non-Africans, which may be used to support an African origin for humans. However, an important finding is that LD is not the same in different loci, with e.g., Europeans showing higher LD in a particular locus than Asians and vice versa.
European Journal of Human Genetics (advance online publication)
Linkage disequilibrium patterns vary substantially among populations
Space
Sarah L Sawyer et al.
A major initiative to create a global human haplotype map has recently been launched as a tool to improve the efficiency of disease gene mapping. The 'HapMap' project will study common variants in depth in four (and to a lesser degree in up to 12) populations to catalogue haplotypes that are expected to be common to all populations. A hope of the 'HapMap' project is that much of the genome occurs in regions of limited diversity such that only a few of the SNPs in each region will capture the diversity and be relevant around the world. In order to explore the implications of studying only a limited number of populations, we have analyzed linkage disequilibrium (LD) patterns of three 175-320 kb genomic regions in 16 diverse populations with an emphasis on African and European populations. Analyses of these three genomic regions provide empiric demonstration of marked differences in frequencies of the same few haplotypes, resulting in differences in the amount of LD and very different sets of haplotype frequencies. These results highlight the distinction between the statistical concept of LD and the biological reality of haplotypes and their frequencies. The significant quantitative and qualitative variation in LD among populations, even for populations within a geographic region, emphasizes the importance of studying diverse populations in the HapMap project to assure broad applicability of the results.
Link
A new paper in European Journal of Human Genetics studies the extent to which LD varies among different human populations. This is an important finding since LD is often used to determine how many polymorphisms to examine. For example, if a long sequence of DNA is in LD, then typing a single SNP somewhere on it implicitly reveals the state of the entire sequence. But this may lead to mistakes if applied to a different population X for which whole sequence information is not available, as the sequence in question might not be in LD in X.
The paper confirms the lower LD in Africans than in non-Africans, which may be used to support an African origin for humans. However, an important finding is that LD is not the same in different loci, with e.g., Europeans showing higher LD in a particular locus than Asians and vice versa.
European Journal of Human Genetics (advance online publication)
Linkage disequilibrium patterns vary substantially among populations
Space
Sarah L Sawyer et al.
A major initiative to create a global human haplotype map has recently been launched as a tool to improve the efficiency of disease gene mapping. The 'HapMap' project will study common variants in depth in four (and to a lesser degree in up to 12) populations to catalogue haplotypes that are expected to be common to all populations. A hope of the 'HapMap' project is that much of the genome occurs in regions of limited diversity such that only a few of the SNPs in each region will capture the diversity and be relevant around the world. In order to explore the implications of studying only a limited number of populations, we have analyzed linkage disequilibrium (LD) patterns of three 175-320 kb genomic regions in 16 diverse populations with an emphasis on African and European populations. Analyses of these three genomic regions provide empiric demonstration of marked differences in frequencies of the same few haplotypes, resulting in differences in the amount of LD and very different sets of haplotype frequencies. These results highlight the distinction between the statistical concept of LD and the biological reality of haplotypes and their frequencies. The significant quantitative and qualitative variation in LD among populations, even for populations within a geographic region, emphasizes the importance of studying diverse populations in the HapMap project to assure broad applicability of the results.
Link
More on Frank Salter
David B. has written the second part of his criticism of Frank Salter. Some comments of my own on the first part here. And some numbered comments on the second part here:
1. I see this as a minor point and one that can ultimately be defeated by either the "correlated alleles" approach or the "how small a difference is too small" approach.
2. Well, only in the case of polymorphic genes does it make sense to speak of competition between alleles, so I'm not sure I understand this criticism.
3. I agree with Salter on this one. Adaptive to an environment X = increasing in frequency when found in X. If an allele for a disease finds itself in an environment which favors it, even if it's an "irrational" environment which wants to perpetuate the disease, the allele is still adaptive.
4. I agree with David B. here. The human genome has mutations which are either neutral, adaptive or maladaptive. From an evolutionary perspective, an ethnic group ought to value adaptive mutations, because these are its strength. From a psychological perspective, an ethnic group might value its distinctive mutations even if they are neutral and maladaptive, e.g., mutations for a particular distinctive physical trait, e.g., the convex nose which was highly valued by Ancient Persians (*), or the freckled skin of many NW Europeans (**)
5. Related to the previous point. It is certainly the case that from an evolutionary perspective maladaptive alleles should not be preserved. For something like sickle-cell disease, an ethnic group removed from the malarial environment would probably feel no attachment for the trait, but this may not be the case for other traits mentioned in #4.
In conclusion, Frank Salter's work is one extreme in the spectrum of ideas, proposing the "objective" value of the ethnic preservationist strategy. At the other end is the older ideas of the more "tolerant" representatives of Nazi Rassenkunde, who did not ephasize the value of the Nordic race on the basis of its superiority, but rather of its distinctiveness. Richard McCulloch is the most prolific modern representative of this school of thought.
We could in fact break down ethnic preservationists based on whether they approach the issue of ethnic preservation on the basis of the distinctiveness or the superiority of their own ethnic group. Traditional racism maintains both distinctiveness and superiority. Eugenically-oriented preservationists emphasize the "deterioration" that would result by admixture rather than the loss of distinctiveness. Someone of McCulloch's ideology emphasizes ethnic distinctiveness and the need for preservation of distinct human forms, much as we seek to preserve endangered species. And, finally those who are neither interested in genetic distinctiveness nor in genetic superiority can be termed as cultural preservationists, emphasizing the non-genetic aspects of ethnicity. This ideology is dominant, or at least traditional in many modern nations (e.g., France) although it is increasingly challenged by the adherents of multi-culturalism who generally maintain that neither the genetic nor the cultural aspect of an ethnic group needs be preserved, but rather that countries should evolve in the direction of co-existence of racial stocks and cultures within the state.
(*) The convex nose may have had an adaptive origin in the distant past, but was hardly in more recent historical years.
(**) Freckled skin is associated with various skin diseases. It too might have had an adaptive, or at least neutral origin in the distant past, but not today.
1. I see this as a minor point and one that can ultimately be defeated by either the "correlated alleles" approach or the "how small a difference is too small" approach.
2. Well, only in the case of polymorphic genes does it make sense to speak of competition between alleles, so I'm not sure I understand this criticism.
3. I agree with Salter on this one. Adaptive to an environment X = increasing in frequency when found in X. If an allele for a disease finds itself in an environment which favors it, even if it's an "irrational" environment which wants to perpetuate the disease, the allele is still adaptive.
4. I agree with David B. here. The human genome has mutations which are either neutral, adaptive or maladaptive. From an evolutionary perspective, an ethnic group ought to value adaptive mutations, because these are its strength. From a psychological perspective, an ethnic group might value its distinctive mutations even if they are neutral and maladaptive, e.g., mutations for a particular distinctive physical trait, e.g., the convex nose which was highly valued by Ancient Persians (*), or the freckled skin of many NW Europeans (**)
5. Related to the previous point. It is certainly the case that from an evolutionary perspective maladaptive alleles should not be preserved. For something like sickle-cell disease, an ethnic group removed from the malarial environment would probably feel no attachment for the trait, but this may not be the case for other traits mentioned in #4.
In conclusion, Frank Salter's work is one extreme in the spectrum of ideas, proposing the "objective" value of the ethnic preservationist strategy. At the other end is the older ideas of the more "tolerant" representatives of Nazi Rassenkunde, who did not ephasize the value of the Nordic race on the basis of its superiority, but rather of its distinctiveness. Richard McCulloch is the most prolific modern representative of this school of thought.
We could in fact break down ethnic preservationists based on whether they approach the issue of ethnic preservation on the basis of the distinctiveness or the superiority of their own ethnic group. Traditional racism maintains both distinctiveness and superiority. Eugenically-oriented preservationists emphasize the "deterioration" that would result by admixture rather than the loss of distinctiveness. Someone of McCulloch's ideology emphasizes ethnic distinctiveness and the need for preservation of distinct human forms, much as we seek to preserve endangered species. And, finally those who are neither interested in genetic distinctiveness nor in genetic superiority can be termed as cultural preservationists, emphasizing the non-genetic aspects of ethnicity. This ideology is dominant, or at least traditional in many modern nations (e.g., France) although it is increasingly challenged by the adherents of multi-culturalism who generally maintain that neither the genetic nor the cultural aspect of an ethnic group needs be preserved, but rather that countries should evolve in the direction of co-existence of racial stocks and cultures within the state.
(*) The convex nose may have had an adaptive origin in the distant past, but was hardly in more recent historical years.
(**) Freckled skin is associated with various skin diseases. It too might have had an adaptive, or at least neutral origin in the distant past, but not today.
January 24, 2005
Y-STRs in Europe
A very important new paper uses short tandem repeat (STR) markers on the human Y-chromosome over a set of 12,700 European individuals. STRs are fast mutating, making them unsuitable for the inference of phylogeny, but conversely suitable for detecting more recent population movements.
The main finding of this study is the detection of a strong differentiation between an "eastern" and a "western" cluster of haplotypes. In Central Europe where these two clusters meet, the gradient of change is sharper on an east-west axis than on a north-south axis. These two main population groupings are placed in boxes in the following dendrogram.
In the next figure, the first three dimensions of an MDS on ΦST is shown:
Now, with respects to the Greeks, the following observations can be made. Greeks belong to a cluster (see dendrogram above) which stretches from parts of Italy and Sicily to the west to Turkey and from Hungary in the north to Greece in the south. This area corresponds quite closely to that of Gimbutas' Old Europe and the Eastern Roman ("Byzantine") Empire. I am also reminded of what I wrote about 1.5 years ago:
In Table 2, the authors perform a pseudo-admixture analysis of the studied populations into Western, Eastern, and Other clusters. It is noteworthy that Greeks have 44% of the Western and 27% of the Eastern cluster. By contrast, Bulgarians have 53% of the Eastern cluster and 28% of the Western one, and Romanians 57/24% respectively, and Albanians 53/34%. Hence, it seems that Greeks are differentiated from their Balkan neighbors in being less "Eastern". In fact the fraction of the Eastern cluster in Greeks is similar to that in West Italians (20%) and Sicilians (18%). This underscores the limited influence of demographic processes taking part north of Greece on the Greek population.
The differentiation of Turks from Turkey and the Balkans from other Balkan populations on the second dimension of the MDS plot most likely indicates the presence of unique Anatolian or Central Asian haplotypes among the former, as the Turks were formed by an amalgamation of West Asian Caucasoids with Central Asians of mixed Caucasoid-Mongoloid background.
There is much more interesting information in the paper, e.g., "The area covered by the former German Democratic Republic significantly overlaps with the homeland of Slavic (i.e. Wendish) people from the Middle Ages, including the Sorbes, Pomeranes, Wagriens, Obodrites, and Ranes. This geographical coincidence would explain the obvious preservation of "Slavic" haplotypes in eastern Germany far better than, for example, the settlement of eastern European World War II refugees, since the latter were mostly Germans anyway." which confirms a recent study which arrived at the same conclusions.
Human Genetics (Published Online)
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution
Lutz Roewer et al.
Abstract Previous studies of human Y-chromosomal single-nucleotide polymorphisms (Y-SNPs) established a link between the extant Y-SNP haplogroup distribution and the prehistoric demography of Europe. By contrast, our analysis of seven rapidly evolving Y-chromosomal short tandem repeat loci (Y-STRs) in over 12,700 samples from 91 different locations in Europe reveals a signature of more recent historic events, not previously detected by other genetic markers. Cluster analysis based upon molecular variance yields two clearly identifiable sub-clusters of Western and Eastern European Y-STR haplotypes, and a diverse transition zone in central Europe, where haplotype spectra change more rapidly with longitude than with latitude. This and other observed patterns of Y-STR similarity may plausibly be related to particular historical incidents, including, for example, the expansion of the Franconian and Ottoman Empires. We conclude that Y-STRs may be capable of resolving male genealogies to an unparalleled degree and could therefore provide a useful means to study local population structure and recent demographic history.
Link
The main finding of this study is the detection of a strong differentiation between an "eastern" and a "western" cluster of haplotypes. In Central Europe where these two clusters meet, the gradient of change is sharper on an east-west axis than on a north-south axis. These two main population groupings are placed in boxes in the following dendrogram.
In the next figure, the first three dimensions of an MDS on ΦST is shown:
Inspection of Fig. 1 suggests that the similarity of Y-STR haplotypes decays much more rapidly along an east-west than a north-south gradient, at least in central Europe. This notion was formally corroborated by a MDS analysis of all pair-wise FST values. The first dimension, accounting for almost 89% of the variance (Table 1), clearly shows a decomposition of the European Y-STR genetic structure into three major components (Fig. 4a), closely corresponding to the "Western", "Central" and "Eastern" sub-clusters of Fig. 2. The first dimension also highlights the genetic peculiarity of metropolitan Paris and Vienna, Finland, and the two Balkan-Slavic samples of Slovenia and Croatia in relation to their respective surroundings. The degree of east-west stratification of the European Y-STR haplotype spectrum was quantified by Spearman rank correlation analysis between the latitudinal and longitudinal distances, respectively, and pair-wise PHgrST (Fig. 5). For 81 samples, the correlation was stronger with longitude than with latitude, and the few populations showing a notably reversed effect were from the fringe of the continent (Fig. 5). Furthermore, whilst only five samples showed a negative correlation with longitude, namely Emilia Romagna (I), Vaesterbotten (S), Finland, Estonia and Northern Norway, the same was true for 12 samples with latitude. The second dimension of the MDS analysis revealed more subtle structural features, such as, for example, the distinction between the Turkish and non-Turkish samples in "Southern Europe" and the divide between the two Dutch meta-samples. The third dimension eventually depicted an underlying north-south gradient that is usually seen in Y-SNP studies of European populations (Rosser et al. 2000; Semino et al. 2000). However, since the second and third dimensions of the Y-STR MDS accounted for less than 10% of the variance (Table 1), the major geographic structuring associated with the two types of markers must be substantially different.
Now, with respects to the Greeks, the following observations can be made. Greeks belong to a cluster (see dendrogram above) which stretches from parts of Italy and Sicily to the west to Turkey and from Hungary in the north to Greece in the south. This area corresponds quite closely to that of Gimbutas' Old Europe and the Eastern Roman ("Byzantine") Empire. I am also reminded of what I wrote about 1.5 years ago:
The Aegean-Mediterranean racial element does not seem to have penetrated much to the north of Hungary along the continental route. Interestingly, Hungarians appear to have a significant frequency of Y chromosome haplogroup E -which has a peri-Mediterranean distribution- and were found to be more similar to Greeks than the Greeks' more immediate northern neighbors according to Cavalli-Sforza.It is also interesting that the Balkan Slavs are not allied with the "Eastern European" cluster. This may indicate a limited extent of Proto-Slavic intrusion across the Danube, or the well-known Finno-Ugrian admixture in Eastern Slavs, or both.
In Table 2, the authors perform a pseudo-admixture analysis of the studied populations into Western, Eastern, and Other clusters. It is noteworthy that Greeks have 44% of the Western and 27% of the Eastern cluster. By contrast, Bulgarians have 53% of the Eastern cluster and 28% of the Western one, and Romanians 57/24% respectively, and Albanians 53/34%. Hence, it seems that Greeks are differentiated from their Balkan neighbors in being less "Eastern". In fact the fraction of the Eastern cluster in Greeks is similar to that in West Italians (20%) and Sicilians (18%). This underscores the limited influence of demographic processes taking part north of Greece on the Greek population.
The differentiation of Turks from Turkey and the Balkans from other Balkan populations on the second dimension of the MDS plot most likely indicates the presence of unique Anatolian or Central Asian haplotypes among the former, as the Turks were formed by an amalgamation of West Asian Caucasoids with Central Asians of mixed Caucasoid-Mongoloid background.
There is much more interesting information in the paper, e.g., "The area covered by the former German Democratic Republic significantly overlaps with the homeland of Slavic (i.e. Wendish) people from the Middle Ages, including the Sorbes, Pomeranes, Wagriens, Obodrites, and Ranes. This geographical coincidence would explain the obvious preservation of "Slavic" haplotypes in eastern Germany far better than, for example, the settlement of eastern European World War II refugees, since the latter were mostly Germans anyway." which confirms a recent study which arrived at the same conclusions.
Human Genetics (Published Online)
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution
Lutz Roewer et al.
Abstract Previous studies of human Y-chromosomal single-nucleotide polymorphisms (Y-SNPs) established a link between the extant Y-SNP haplogroup distribution and the prehistoric demography of Europe. By contrast, our analysis of seven rapidly evolving Y-chromosomal short tandem repeat loci (Y-STRs) in over 12,700 samples from 91 different locations in Europe reveals a signature of more recent historic events, not previously detected by other genetic markers. Cluster analysis based upon molecular variance yields two clearly identifiable sub-clusters of Western and Eastern European Y-STR haplotypes, and a diverse transition zone in central Europe, where haplotype spectra change more rapidly with longitude than with latitude. This and other observed patterns of Y-STR similarity may plausibly be related to particular historical incidents, including, for example, the expansion of the Franconian and Ottoman Empires. We conclude that Y-STRs may be capable of resolving male genealogies to an unparalleled degree and could therefore provide a useful means to study local population structure and recent demographic history.
Link
Ethnic genetic interests: do they exist, and did they evolve?
The debate over Frank Salter's work on ethnic genetic interests is flaring up over at Gene Expression in response to a post by David B. criticizing Salter's work. Here is a small contribution to put the debate in its proper perspective:
There are two components to the 'ethnic genetic interests' problem.
#1: Is it adaptive to prefer co-ethnics to foreigners?
#2: Did we evolve to prefer co-ethnics to foreigners?
The answer to #1 is probably yes, provided that we don't sacrifice too much of our personal and close family fitness in the process.
If, for example there are two ethnic groups A, B each of which controls equal amounts of equal-quality land. If A allows immigration from B, but B does not allow immigration from A, then the distinctive genes of A may end up having a percentage of only e.g., 30% in the joint population, since the members of B will fill their own land to its carrying capacity, and also use some of the resources of the land of A by migrating there.
Therefore, a politician from B who enacted such a policy would do a great benefit to his 'distinctive genes'
The answer to #2 is probably no, because unlike members of our own family which are both close to us and highly valuable, members of our ethnic group are much less valuable and distant from us. The opportunity for any 'ethnic nepotism' gene to evolve would thus be miniscule, since it could only evolve by providing dramatic benefits to many co-ethnics, and the opportunity for such dramatic actions would be lacking for the vast majority of the population.
There are two components to the 'ethnic genetic interests' problem.
#1: Is it adaptive to prefer co-ethnics to foreigners?
#2: Did we evolve to prefer co-ethnics to foreigners?
The answer to #1 is probably yes, provided that we don't sacrifice too much of our personal and close family fitness in the process.
If, for example there are two ethnic groups A, B each of which controls equal amounts of equal-quality land. If A allows immigration from B, but B does not allow immigration from A, then the distinctive genes of A may end up having a percentage of only e.g., 30% in the joint population, since the members of B will fill their own land to its carrying capacity, and also use some of the resources of the land of A by migrating there.
Therefore, a politician from B who enacted such a policy would do a great benefit to his 'distinctive genes'
The answer to #2 is probably no, because unlike members of our own family which are both close to us and highly valuable, members of our ethnic group are much less valuable and distant from us. The opportunity for any 'ethnic nepotism' gene to evolve would thus be miniscule, since it could only evolve by providing dramatic benefits to many co-ethnics, and the opportunity for such dramatic actions would be lacking for the vast majority of the population.
January 20, 2005
Genetic admixture and Cardiovascular health in African Americans
A new paper demonstrates that the percentage of genetic admixture in African Americans is related to cardiovascular health, but so are socioeconomic factors.
Am. J. Hum. Genet., 76:000, 2005
Population Structure, Admixture, and Aging-Related Phenotypes in African American Adults: The Cardiovascular Health Study
Alexander P. Reiner et al.
U.S. populations are genetically admixed, but surprisingly little empirical data exists documenting the impact of such heterogeneity on type I and type II error in genetic-association studies of unrelated individuals. By applying several complementary analytical techniques, we characterize genetic background heterogeneity among 810 self-identified African American subjects sampled as part of a multisite cohort study of cardiovascular disease in older adults. On the basis of the typing of 24 ancestry-informative biallelic single-nucleotide–polymorphism markers, there was evidence of substantial population substructure and admixture. We used an allele-sharing–based clustering algorithm to infer evidence for four genetically distinct subpopulations. Using multivariable regression models, we demonstrate the complex interplay of genetic and socioeconomic factors on quantitative phenotypes related to cardiovascular disease and aging. Blood glucose level correlated with individual African ancestry, whereas body mass index was associated more strongly with genetic similarity. Blood pressure, HDL cholesterol level, C-reactive protein level, and carotid wall thickness were not associated with genetic background. Blood pressure and HDL cholesterol level varied by geographic site, whereas C-reactive protein level differed by occupation. Both ancestry and genetic similarity predicted the number and quality of years lived during follow-up, but socioeconomic factors largely accounted for these associations. When the 24 genetic markers were tested individually, there were an excess number of marker-trait associations, most of which were attenuated by adjustment for genetic ancestry. We conclude that the genetic demography underlying older individuals who self identify as African American is complex, and that controlling for both genetic admixture and socioeconomic characteristics will be required in assessing genetic associations with chronic-disease–related traits in African Americans. Complementary methods that identify discrete subgroups on the basis of genetic similarity may help to further characterize the complex biodemographic structure of human populations.
Link
Am. J. Hum. Genet., 76:000, 2005
Population Structure, Admixture, and Aging-Related Phenotypes in African American Adults: The Cardiovascular Health Study
Alexander P. Reiner et al.
U.S. populations are genetically admixed, but surprisingly little empirical data exists documenting the impact of such heterogeneity on type I and type II error in genetic-association studies of unrelated individuals. By applying several complementary analytical techniques, we characterize genetic background heterogeneity among 810 self-identified African American subjects sampled as part of a multisite cohort study of cardiovascular disease in older adults. On the basis of the typing of 24 ancestry-informative biallelic single-nucleotide–polymorphism markers, there was evidence of substantial population substructure and admixture. We used an allele-sharing–based clustering algorithm to infer evidence for four genetically distinct subpopulations. Using multivariable regression models, we demonstrate the complex interplay of genetic and socioeconomic factors on quantitative phenotypes related to cardiovascular disease and aging. Blood glucose level correlated with individual African ancestry, whereas body mass index was associated more strongly with genetic similarity. Blood pressure, HDL cholesterol level, C-reactive protein level, and carotid wall thickness were not associated with genetic background. Blood pressure and HDL cholesterol level varied by geographic site, whereas C-reactive protein level differed by occupation. Both ancestry and genetic similarity predicted the number and quality of years lived during follow-up, but socioeconomic factors largely accounted for these associations. When the 24 genetic markers were tested individually, there were an excess number of marker-trait associations, most of which were attenuated by adjustment for genetic ancestry. We conclude that the genetic demography underlying older individuals who self identify as African American is complex, and that controlling for both genetic admixture and socioeconomic characteristics will be required in assessing genetic associations with chronic-disease–related traits in African Americans. Complementary methods that identify discrete subgroups on the basis of genetic similarity may help to further characterize the complex biodemographic structure of human populations.
Link
January 19, 2005
Y-chromosome variation in Azores (II)
Following a very recent paper on Y-chromosomal variation in the Azores, a new study deals with the subject of difference in different islands of the Azores, reflecting different patterns of settlement. Unfortunately, as the authors acknowledge, the level of phylogenetic resolution used by this study is insuficient to resolve the fraction of origin of the population from Portugal, other European countries, Jews, North and Sub-Saharan Africans.
Ann Hum Genet (Online Early)
Analysis of Y-chromosome Variability and its Comparison with mtDNA Variability Reveals Different Demographic Histories Between Islands in the Azores Archipelago (Portugal)
R. Montiel et al.
Summary
We determined the Y-chromosomal composition of the population of the Azores Islands (Portugal), by analyzing 20 binary polymorphisms located in the non-recombining portion of the Y-chromosome (NRY), in 185 unrelated individuals from the three groups of islands forming the Archipelago (Eastern, Central and Western). Similar to that described for other Portuguese samples, the most frequent haplogroups were R1(xR1b3f) (55.1%), E(xE3a) (13%) and J (8.6%). Principal components analysis revealed a Western European profile for the Azorean population. No significant differences between Azores and mainland Portugal were observed. However, the haplogroup distribution across the three groups of islands was not similar (P<0.003). The Western group presented differences in the frequencies of haplogroups R1, E(xE3a) and I1b2 (27.3%, 22.7% and 13.6%, respectively) when compared to the other two groups. An assessment of the NRY variability, and its comparison with mitochondrial DNA (mtDNA) variability, was further evidence of the differential composition of males during the settlement of the three groups of islands, contrary to what has been previously deduced for the female settlers using mtDNA data.
Link
Ann Hum Genet (Online Early)
Analysis of Y-chromosome Variability and its Comparison with mtDNA Variability Reveals Different Demographic Histories Between Islands in the Azores Archipelago (Portugal)
R. Montiel et al.
Summary
We determined the Y-chromosomal composition of the population of the Azores Islands (Portugal), by analyzing 20 binary polymorphisms located in the non-recombining portion of the Y-chromosome (NRY), in 185 unrelated individuals from the three groups of islands forming the Archipelago (Eastern, Central and Western). Similar to that described for other Portuguese samples, the most frequent haplogroups were R1(xR1b3f) (55.1%), E(xE3a) (13%) and J (8.6%). Principal components analysis revealed a Western European profile for the Azorean population. No significant differences between Azores and mainland Portugal were observed. However, the haplogroup distribution across the three groups of islands was not similar (P<0.003). The Western group presented differences in the frequencies of haplogroups R1, E(xE3a) and I1b2 (27.3%, 22.7% and 13.6%, respectively) when compared to the other two groups. An assessment of the NRY variability, and its comparison with mitochondrial DNA (mtDNA) variability, was further evidence of the differential composition of males during the settlement of the three groups of islands, contrary to what has been previously deduced for the female settlers using mtDNA data.
Link
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