Modern day Latin America resulted from the encounter of Europeans with the indigenous peoples of the Americas in 1492, followed by waves of migration from Europe and Africa. As a result, the genomic structure of present day Latin Americans was determined both by the genetic structure of the founding populations and the numbers of migrants from these different populations. Here, we analyzed DNA collected from two well-established communities in Colorado (33 unrelated individuals) and Ecuador (20 unrelated individuals) with a measurable prevalence of the BRCA1 c.185delAG and the GHR c.E180 mutations, respectively, using Affymetrix Genome-wide Human SNP 6.0 arrays to identify their ancestry. These mutations are thought to have been brought to these communities by Sephardic Jewish progenitors. Principal component analysis and clustering methods were employed to determine the genome-wide patterns of continental ancestry within both populations using single nucleotide polymorphisms, complemented by determination of Y-chromosomal and mitochondrial DNA haplotypes. When examining the presumed European component of these two communities, we demonstrate enrichment for Sephardic Jewish ancestry not only for these mutations, but also for other segments as well. Although comparison of both groups to a reference Hispanic/Latino population of Mexicans demonstrated proximity and similarity to other modern day communities derived from a European and Native American two-way admixture, identity-by-descent and Y-chromosome mapping demonstrated signatures of Sephardim in both communities. These findings are consistent with historical accounts of Jewish migration from the realms that comprise modern Spain and Portugal during the Age of Discovery. More importantly, they provide a rationale for the occurrence of mutations typically associated with the Jewish Diaspora in Latin American communities.
More evidence of Sephardic ancestry in some new world Hispanic groups
Velez et al. The impact of Converso Jews on the genomes of modern Latin Americans. Hum Genet. 2011 Jul 26. [abstract]
Sorbs autosomally distinct from Germans
Population-genetic comparison of the Sorbian isolate population in Germany with the German KORA population using genome-wide SNP arrays (abstract; provisional pdf):
Background
The Sorbs are an ethnic minority in Germany with putative genetic isolation, making the population interesting for disease mapping. A sample of N=977 Sorbs is currently analysed in several genome-wide meta-analyses. Since genetic differences between populations are a major confounding factor in genetic meta-analyses, we compare the Sorbs with the German outbred population of the KORA F3 study (N=1644) and other publically available European HapMap populations by population genetic means. We also aim to separate effects of over-sampling of families in the Sorbs sample from effects of genetic isolation and compare the power of genetic association studies between the samples.
Results
The degree of relatedness was significantly higher in the Sorbs. Principal components analysis revealed a west to east clustering of KORA individuals born in Germany, KORA individuals born in Poland or Czech Republic, Half-Sorbs (less than four Sorbian grandparents) and Full-Sorbs. The Sorbs cluster is nearest to the cluster of KORA individuals born in Poland. The number of rare SNPs is significantly higher in the Sorbs sample. FST between KORA and Sorbs is an order of magnitude higher than between different regions in Germany. Compared to the other populations, Sorbs show a higher proportion of individuals with runs of homozygosity between 2.5 Mb and 5 Mb. Linkage disequilibrium (LD) at longer range is also slightly increased but this has no effect on the power of association studies. Oversampling of families in the Sorbs sample causes detectable bias regarding higher FST values and higher LD but the effect is an order of magnitude smaller than the observed differences between KORA and Sorbs. Relatedness in the Sorbs also influenced the power of uncorrected association analyses.
Conclusions
Sorbs show signs of genetic isolation which cannot be explained by over-sampling of relatives, but the effects are moderate in size. The Slavonic origin of the Sorbs is still genetically detectable. Regarding LD structure, a clear advantage for genome-wide association studies cannot be deduced. The significant amount of cryptic relatedness in the Sorbs sample results in inflated variances of Beta-estimators which should be considered in genetic association analyses.
Dienekes releases ancestry analysis tool
For people with 23andMe or Family Finder data (background; download). Don't take the component names too literally or assume this particular analysis is the final word, but the tool allows you to compare your personal results with those for various populations included in Dienekes' admixture runs. Definitely do not take the results from Dodecad Oracle mixed mode (which lists combinations of two populations that would produce admixture proportions most similar to yours) literally. It might be useful for people with more broadly mixed ancestry. But from what I'm seeing, people of Northwestern European ancestry will frequently be shown as, for example, 7/8 Scottish and 1/8 Italian, when they have minimal Scottish and no Italian ancestry. Dienekes acknowledges "mixed mode should be used with caution". I think it throws away too much information to ever have much precision within Europe. The future will be very large databases and assignment of individual segments to specific geographic locations.
Advice for women and men
Some woman: "In the end, infertility can make you feel less human. As cultivated as we are, we hold on to a deep-rooted belief that our worth is tied to how well, and how much, we reproduce. I've seen women and men shrink like salted slugs during IVF treatment. [. . .] Many women are still listening to their bosses instead of their gynecologists and their guts. They still trust that their mid to late 30s is a fine time to start trying for children. True, they could get lucky. But the question should be asked: Would you prefer to have children earlier and naturally or later, by dosing yourself up with drugs, submitting to surgery and paying tens of thousands of dollars? [. . .] The first thing I'd like to tell women ages 26 to 34 is: Start having babies. I know it's not polite or funny. But I don't want others to go through what I'm going through now." (Holly Finn; My Fertility Crisis; We hear about fertility treatments when they're successful. But for millions of women, they mean regret, heartbreak, shame and silence.)
Winston Churchill: "There is no finer investment for any community than putting milk into babies" - radio broadcast, 1943. "You must have four children. One for Mother, one for Father, one for Accidents, one for Increase".
Julian Huxley: "If we want to maintain the race, at a high level, physically and mentally, everybody sound in body and mind should marry and have enough children to perpetuate their stock and carry on the race."
Winston Churchill: "There is no finer investment for any community than putting milk into babies" - radio broadcast, 1943. "You must have four children. One for Mother, one for Father, one for Accidents, one for Increase".
Julian Huxley: "If we want to maintain the race, at a high level, physically and mentally, everybody sound in body and mind should marry and have enough children to perpetuate their stock and carry on the race."
Ötzi (Tyrolean Iceman) genome coming "soon"
Someone at a genealogical DNA forum posts a reply received from the Institute for Mummies and the Iceman in Bolzano, Italy: "The Iceman genome will be published soon including his Y haplogroup. You may understand that we cannot release any information in advance." The information is apparently scheduled to be released 'October 20-22, 2011, at the next Bolzano Mummy Congress called "Mummies from the Ice".'
Irish DNA Atlas project launched
From an article in an Irish genealogy newsletter (pdf): "Over the past decade or so genealogists around the world have become increasingly intrigued by the possibilities afforded through the advances in genetic genealogy to augment or confirm our traditional record based research. This new group project is yet another first for Irish genealogy building on the Society’s unparalleled record of innovative projects and initiatives. The Society’s Director of Archival Services, Séamus O’Reilly, FGSI, will spearhead this new group project in conjunction with Dr. Gianpiero Cavalleri of the Royal College of Surgeons in Ireland aimed at promoting an awareness, appreciation and knowledge of genetic genealogy. The project will compile an Irish DNA Atlas through the collection of birth briefs and DNA samples. [. . .]
Dr. Cavalleri explained the objective of the project as ‘seeking to create a collection of DNA samples from individuals of Irish origin, which can then be used to explore human genetic variation in the Irish population. Understanding human genetic variation in the Irish population is required for two principal purposes; (1) to further our knowledge of the population history of Ireland and (2) to help us understand how genes influence health in Ireland.’ He said that ‘the diversity of the Irish genome is a valuable, yet largely unexplored, resource of the Irish nation. As an island population on the edge of Europe, Ireland has a rich cultural heritage that is the product of ancient migrations to the region. Understanding and preserving this history enriches our culture. Whilst historical records and archaeological studies have uncovered many wonderful aspects of Irish history, there are many questions left unanswered and DNA can help address these.’
The Aims of the Irish DNA Atlas are (1) To create a DNA collection that allows genetic analysis of population structure within Ireland, and ethnic groups across the island. Analysis of such a collection will reveal ancient demographic movements and inform on the ancestry of specific regions and ethnic groups within Ireland. (2) To create a DNA collection to act as controls in population based studies of health in Ireland. The Project aims to recruit individuals representing each of the 32 counties of Ireland. Each participant should have all eight great grandparents from that county – so that their DNA represents that particular region of Ireland. By recruiting people from every county the project hopes to build a “DNA atlas” of the island of Ireland. This new group project is not confined to GSI Members, anybody can participate. For further information or to participate please contact Séamus O’Reilly on Irish.DNA@familyhistory.ie"
Dr. Cavalleri explained the objective of the project as ‘seeking to create a collection of DNA samples from individuals of Irish origin, which can then be used to explore human genetic variation in the Irish population. Understanding human genetic variation in the Irish population is required for two principal purposes; (1) to further our knowledge of the population history of Ireland and (2) to help us understand how genes influence health in Ireland.’ He said that ‘the diversity of the Irish genome is a valuable, yet largely unexplored, resource of the Irish nation. As an island population on the edge of Europe, Ireland has a rich cultural heritage that is the product of ancient migrations to the region. Understanding and preserving this history enriches our culture. Whilst historical records and archaeological studies have uncovered many wonderful aspects of Irish history, there are many questions left unanswered and DNA can help address these.’
The Aims of the Irish DNA Atlas are (1) To create a DNA collection that allows genetic analysis of population structure within Ireland, and ethnic groups across the island. Analysis of such a collection will reveal ancient demographic movements and inform on the ancestry of specific regions and ethnic groups within Ireland. (2) To create a DNA collection to act as controls in population based studies of health in Ireland. The Project aims to recruit individuals representing each of the 32 counties of Ireland. Each participant should have all eight great grandparents from that county – so that their DNA represents that particular region of Ireland. By recruiting people from every county the project hopes to build a “DNA atlas” of the island of Ireland. This new group project is not confined to GSI Members, anybody can participate. For further information or to participate please contact Séamus O’Reilly on Irish.DNA@familyhistory.ie"
Svante Paabo to sequence Upper Paleolithic (early modern) Europeans
Paabo collected samples of 19,000 year old bone from Iberia and intends to test the theory that Northern Europeans derive from a Last Glacial Maximum refugium in SW Europe. This Franco-Cantabrian refuge will almost certainly turn out to be a much less important (though still real) source of ancestry for Northern Europeans than was assumed a few years ago. Results should be interesting.
El padre del genoma del neandertal investiga el enterramiento del Mirón:
Google translation below:
El padre del genoma del neandertal investiga el enterramiento del Mirón:
Svante Pääbo, prestigioso científico en el campo de la Paleogenética, ha iniciado una colaboración con el Instituto Internacional de Investigaciones Prehistóricas de la Universidad de Cantabria para estudiar el enterramiento paleolítico que se exhumó en la campaña de 2010 en la cueva del Mirón, en Ramales de la Victoria. Invitado por el catedrático de la UC Manuel González Morales y por su colega norteamericano Lawrence G. Strauss, de la Universidad de Nuevo México, directores de los trabajos en la cueva del Mirón, Pääbo ha recogido muestras y conocido de primera mano este proyecto arqueológico.
Neandertales y sapiens
-¿Qué motivo le ha traído a Cantabria?
-El descubrimiento del pasado año de un enterramiento en la cueva del Mirón, un hallazgo muy singular e interesante para nosotros ya que esto nos permitirá contar con el ADN de esqueletos del Paleolítico Superior, de los que hasta ahora no disponíamos. He visitado la excavación y se trata de un yacimiento fascinante por la larga secuencia de ocupación que presenta.
-¿Qué puede aportar este hallazgo a sus proyectos de investigación?
-Nos interesa para poder analizar qué relación tiene este individuo de tiempos de la última glaciación con la población actual europea. Estimamos que tiene 19.000 años y ahora hemos tomado muestras para obtener el ADN y contar con una datación directa del hueso. Los isótopos nos permitirán conocer, entre otros aspectos, qué régimen alimenticio tenía, si consumía más carne o plantas... [. . .]
-¿Y sus próximos retos?
-En primer lugar, completar el mapa genómico del neandertal. En segundo lugar, conocer mejor quiénes eran los contemporáneos de los neandertales en el sudeste de Asia y en China; para ello estamos trabajando con los restos aparecidos en las cuevas de Denisova, al sur de Siberia. Y en tercer lugar, estamos estudiando los humanos modernos (sapiens sapiens) que reemplazaron a los neandertales.
-¿Qué teorías manejan al respecto?
-Existe la idea entre algunos geneticistas que la población del norte de la Europa actual procede del suroeste con motivo de la última glaciación hace 20.000 años. Se refugiaron allí para protegerse del frío. En el Magdaleniense Superior (Paleolítico Superior) parece que grupos de población volvieron al norte. Trataremos de aportar luz y ver si las poblaciones actuales de países como Holanda, Bélgica, Alemania... están relacionadas con individuos como éste del Mirón, sin comparten características genéticas.
Google translation below:
The beautiful woman in medieval Iberia: Rhetoric, cosmetics, and evolution
From a 2005 Ph.D. thesis by an Italian:
Literary portraits of the beautiful woman in medieval Iberia tend to emphasize several physical features, such as long, blond hair, or light-colored and hairless skin. This study examines the specific features of the beautiful woman in several major works and genres from medieval Iberia. It also traces the rhetorical sources of these portraits to the Classical and medieval Latin traditions, whose influence is evident in other early vernacular literatures of Europe. It then analyzes several medieval cosmetic treatises in Latin and in vernacular languages that attest to medieval women's beautifying practices, such as the use of hair-dyes, depilatories, and skin-whitening creams.
The comparison of the literary and cosmetic evidence shows a canonical view of feminine beauty that encompasses different cultural areas in medieval Iberia. This view is also consistent with ancient as well as with twenty-first century conceptions of beauty. The findings suggest that the ideal of feminine beauty in medieval Iberia is not unique, but rather a manifestation of near-universal male preferences shaped by sexual selection in the course of human evolution. [. . .]
Most cosmetic treatises devote considerable space to the maintenance of well-groomed, long, and healthy hair. They also include many recipes for hair-dyes (blond and black). In Spanish literature, blond hair appears to be more typical of learned poetry and appears to be associated with nobility: "rruvios, largos cabellos / segund doncellas d’estado" (Marqués de Santillana 11-12). In the cantigas it is not mentioned, and in the Andalusian and Arabic tradition hair is black, not without exceptions (see Chapter Three).
[Claudio Da Soller. The beautiful woman in medieval Iberia: Rhetoric, cosmetics, and evolution. University of Missouri - Columbia, 2005.]
Some left response to latest Gould exposure
Nature editorial urges "caution when it comes to questioning the work of scientists who are no longer with us."
Jonathan "reads Madison Grant angrily" Marks takes a slipperier tack:
At least we know Marks and Nature editor didn't coordinate their responses.
Of course, the fact that people like Gould frequently seem incapable of or uninterested in scientific objectivity hardly constitutes a convincing argument that people like Morton are similarly handicapped.
This month sees the latest episode: an assault on the work of US evolutionary biologist and celebrated author Stephen Jay Gould, who died in 2002. Although the critique leaves the majority of Gould's work unscathed, it carries a special sting because it deconstructs a posthumous attack that Gould launched on nineteenth-century physician Samuel Morton. In a 1978 paper (S. J. Gould Science 200, 503–509; 1978) and in his 1981 book The Mismeasure of Man, Gould argued that Morton's measurements of the cranial capacity of hundreds of skulls from worldwide populations, reported in works published between 1839 and 1849, were unconsciously biased, by what he claimed was the physician's prejudice that caucasians were more intelligent, and therefore would have larger skulls. As Gould was canny enough to realize, a charge of unconscious bias sticks faster in science than one of fraud.Nature editor isn't seething with indignation at the temerity of Lewis et al., or anything. He just wishes they would have published this paper while Gould was alive. Gould can't be faulted for failing to ever acknowledge or respond to a similar paper published 23 years ago -- eight years before Gould brought out a "revised" edition of Mismeasure of Man -- since that undergraduate effort was a "more modest" one:
Just as important is the readiness of the scientific community to undertake such studies, and to see them through the sometimes difficult publication process. The criticism of Gould was rejected by the journal Current Anthropology, and spent eight months in the review process at PLoS Biology. And although an undergraduate did publish a more modest study scrutinizing Gould in 1988, it is remarkable that it has taken more than 30 years for a research group to check Gould's claims thoroughly. Did Gould's compelling writing and admirable anti-racist motivations help to delay scrutiny of his facts? Quite possibly, and this is regrettable. Although future historians will be happy to scrutinize our most persuasive and celebrated luminaries, today's scientists should not leave the job to them.
Jonathan "reads Madison Grant angrily" Marks takes a slipperier tack:
So we have: (1) Gould never accused Morton of "misconduct" (2) no one ever took seriously as an example of bias in science Gould's wholly self-invented fantasy of Morton unconsciously mismeasuring "threateningly large black skulls" (3) everyone knows this aspect of Gould's work was already "convincingly challenged" by the 1988 paper (4) Gould was biased but that just proves Gould was right.Gould’s analysis of Morton is widely read, frequently cited, and still commonly assigned in university courses (refs.). Morton has become a canonical example of scientific misconduct...Let’s pause right there. Who says it’s an example of misconduct at all, much less a canonical one? Gould didn’t; Gould argued that Morton fudged unconsciously. I wrote chapters on “Bogus Science” and on “Scientific Misconduct” in my book, Why I Am Not a Scientist (their Ref. 4), and didn’t mention Gould’s treatment of Morton, and I mentioned Morton himself only in passing, as a phrenologist. (Perhaps unsurprisingly , that interest of Morton’s – the scientific aspects of head bumps – doesn’t get a mention in the new paper.)
So why didn’t I cite it as a canonical example of misconduct? Two reasons: First, Gould himself didn’t think it was; and second, even Gould’s argument for unconscious fudging had been convincingly challenged in a paper published in Current Anthropology 23 years ago (their ref. 14).[. . .]
So I will take away two lessons from this. First, about Stephen Jay Gould. Gould, like everybody else in science, tended to see what he was looking for. That’s a good science studies lesson. Second, about this paper. For the most part, it is paranoid positivist rhetoric mixed with slovenly-argued bombast, and a warmed-over critique of Gould, not a significant new contribution to knowledge. If it were, it might have been publishable in a real journal, like Current Anthropology.
At least we know Marks and Nature editor didn't coordinate their responses.
Of course, the fact that people like Gould frequently seem incapable of or uninterested in scientific objectivity hardly constitutes a convincing argument that people like Morton are similarly handicapped.
Some links
Ahnenkult: An Uyghur redhead
Peter Frost: Big Other? "It is even doubtful whether the east-west flow of ideas explains the rise of the European world to global dominance between 1500 and 1900—the main theme of Diamond’s book. This rise to dominance was fueled by a technological revolution that occurred largely in northwestern Europe [. . .] Europe took off economically and geopolitically only when it developed its own intellectual resources."
John Hawks: Where did Neanderancestors live? "I discussed this exact issue with David Reich last week. There is no strong fossil argument for an African ancestor at that time, Europe and West Asia are anatomically and archaeologically just as plausible. My inclination is to suspect Africa because of the deep genetic variation still retained in that population, but that variation could have been retained in other ways -- particularly since every scenario of human origins now must involve population mixture." Apparently continuing a twitter conversation: "With Ngandong date change last week, no H. erectus fossil is late enough to be part of a Denisovan population. [. . .] The hinge point in paleoanthropology right now is the European Middle Pleistocene. Neandergenes don't fit fossil record. That is, Neandergene analysis seems to rule out substantial Neandertal ancestry from Atapuerca et al. Instead, Neandergenes appear to derive from Africa after 250-400 kya. Is Atapuerca/Petralona/Arago a dead end? Or can we find a model that fits data and allows some substantially deeper Neandertal local ancestry? And while we're at it, can we get any Denisovan ancestry to be consistent with Asian Homo erectus? The Denisovan genome analysis seems to rule out any substantial mixture with Neandertals... ...but Okladnikov is literally 3 days' walk. There's simply no biogeographic barrier. The populations need not have been here at same time, but if not where were they? If we can't resolve the European Mid Pleistocene problem, fossils may never help with Denisovan problem."
Arthur R. Jensen and Frank Miele: Ratio Scale Measurement of Mental Processes by Means of Mental Chronometry (mp4 video)
Why is Google keeping a list of Jewish names? Anti-semitism, no doubt.
Tribe on Papua New Guinea meets white man for the first time
Peter Frost: Big Other? "It is even doubtful whether the east-west flow of ideas explains the rise of the European world to global dominance between 1500 and 1900—the main theme of Diamond’s book. This rise to dominance was fueled by a technological revolution that occurred largely in northwestern Europe [. . .] Europe took off economically and geopolitically only when it developed its own intellectual resources."
John Hawks: Where did Neanderancestors live? "I discussed this exact issue with David Reich last week. There is no strong fossil argument for an African ancestor at that time, Europe and West Asia are anatomically and archaeologically just as plausible. My inclination is to suspect Africa because of the deep genetic variation still retained in that population, but that variation could have been retained in other ways -- particularly since every scenario of human origins now must involve population mixture." Apparently continuing a twitter conversation: "With Ngandong date change last week, no H. erectus fossil is late enough to be part of a Denisovan population. [. . .] The hinge point in paleoanthropology right now is the European Middle Pleistocene. Neandergenes don't fit fossil record. That is, Neandergene analysis seems to rule out substantial Neandertal ancestry from Atapuerca et al. Instead, Neandergenes appear to derive from Africa after 250-400 kya. Is Atapuerca/Petralona/Arago a dead end? Or can we find a model that fits data and allows some substantially deeper Neandertal local ancestry? And while we're at it, can we get any Denisovan ancestry to be consistent with Asian Homo erectus? The Denisovan genome analysis seems to rule out any substantial mixture with Neandertals... ...but Okladnikov is literally 3 days' walk. There's simply no biogeographic barrier. The populations need not have been here at same time, but if not where were they? If we can't resolve the European Mid Pleistocene problem, fossils may never help with Denisovan problem."
Arthur R. Jensen and Frank Miele: Ratio Scale Measurement of Mental Processes by Means of Mental Chronometry (mp4 video)
Why is Google keeping a list of Jewish names? Anti-semitism, no doubt.
Tribe on Papua New Guinea meets white man for the first time
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