Jewish Genetics, Part 1: Jewish Populations (Ashkenazim …

Posted: June 19, 2016 at 7:42 pm

Jewish Genetics: Abstracts and Summaries Part 1: Jewish Populations Last Update: April 26, 2016 Family TreeDNA: Genetic Testing Service Get genetically tested to discover your relationship to other families, other Jews, and other ethnic groups. Projects you might qualify to join include "Gesher Galicia - Jewish DNA Project", "JewishGen Belarus SIG DNA Project", "JewishGen Hungarian SIG DNA Project", "German Jewish Gersig DNA Project", "Jewish Frankfurt", "Sephardic Heritage DNA Project", "Jews of Rhodes Project", "The Jewish R1b Project", "Ashkenazi Levite R1a1", and "Jewish E Project". Order a DNA kit from FTDNA's headquarters in the USA This page collects Y-DNA and mtDNA data and analysis related to traditionally Rabbinical Jewish populations of the world, including: Ashkenazim (Jews of Northern and Eastern Europe) Sephardim (Spanish and Portuguese Jews) Mizrakhim (Middle Eastern Jews) Italkim (Italian Jews) Caucasian Mountain Jews (Dagestani and Azerbaijani Jews) Georgian Jews Indian Jews North African Jews Yemenite Jews Ethiopian Jews Steven Bray's study, 2010 Steven M. Bray, Jennifer G. Mulle, Anne F. Dodd, Ann E. Pulver, Stephen Wooding, and Stephen T. Warren. "Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population." Proceedings of the National Academy of Sciences of the United States of America (PNAS) 107:37 (September 14, 2010): pages 16222-16227. 471 unrelated Ashkenazim were genotyped. Among the comparative populations were 1705 continental Europeans and 1251 European-Americans. Also used for comparison were 3 Middle Eastern populations: Palestinian Arabs, Druze, and Bedouins. Abstract: "The Ashkenazi Jewish (AJ) population has long been viewed as a genetic isolate, yet it is still unclear how population bottlenecks, admixture, or positive selection contribute to its genetic structure. Here we analyzed a large AJ cohort and found higher linkage disequilibrium (LD) and identity-by-descent relative to Europeans, as expected for an isolate. However, paradoxically we also found higher genetic diversity, a sign of an older or more admixed population but not of a long-term isolate. Recent reports have reaffirmed that the AJ population has a common Middle Eastern origin with other Jewish Diaspora populations, but also suggest that the AJ population, compared with other Jews, has had the most European admixture. Our analysis indeed revealed higher European admixture than predicted from previous Y-chromosome analyses. Moreover, we also show that admixture directly correlates with high LD, suggesting that admixture has increased both genetic diversity and LD in the AJ population. Additionally, we applied extended haplotype tests to determine whether positive selection can account for the level of AJ-prevalent diseases. We identified genomic regions under selection that account for lactose and alcohol tolerance, and although we found evidence for positive selection at some AJ-prevalent disease loci, the higher incidence of the majority of these diseases is likely the result of genetic drift following a bottleneck. Thus, the AJ population shows evidence of past founding events; however, admixture and selection have also strongly influenced its current genetic makeup."

Excerpts from page 16222:

"The Ashkenazi Jewish (AJ) population has long been viewed as a genetic isolate, kept separate from its European neighbors by religious and cultural practices of endogamy (1). [...] Y-chromosome studies also indicate only a low amount of admixture with neighboring Europeans (8-10). [...] Consistent with recent reports (13, 20, 23-25), principal component analysis (PCA) using these combined datasets confirmed that the AJ individuals cluster distinctly from Europeans, aligning closest to Southern European populations along the first principal component, suggesting a more southern origin, and aligning with Central Europeans along the second, consistent with migration to this region (Fig. S1)."

Excerpts from page 16223:

"The higher diversity in the AJ population was paralleled by a lower inbreeding coefficient, F, indicating the AJ population is more outbred than Europeans, not inbred, as has long been assumed (P < 1e-7) (Table 1). The greater genetic variation among the AJ population was further confirmed using a pairwise identity-by-state (IBS) permutation test, which showed that average pairs of AJ individuals have significantly less genomewide IBS sharing than pairs of EA or Euro individuals (empirical P value < 0.05). Thus, our results show that the AJ population is more genetically diverse than Europeans. [...] We also compared the genome-wide haplotype structure between the AJ and European populations using a haplotype modeling algorithm (26), which models phased haplotypes as edges that pass through nodes at each SNP across the genome. The number of nodes in the model is correlated to the genetic variation, and the number of edges per node is inversely correlated to the haplotype length. Using this model, we found that the AJ population has a greater number of nodes (0.88-1.11% more) but fewer edges per node (3.82-4.76% fewer) compared with the Europeans (P < 1e-50) (Table S2), indicating both higher genetic variation and longer haplotypes in the AJ population, consistent with our previous results. [...] We removed SNPs in high LD and measured the mean heterozygosity per locus across the combined Middle Eastern populations (Bedouin, Palestinian, and Druze) and found that the AJ population had higher heterozygosity (0.3121 vs. 0.3053, P < 1e-23). Other reports showing no increased heterozygosity in the AJ relative to Middle Eastern populations (13, 22) were probably limited by lower AJ sample sizes, which our dataset overcomes. Thus, the increased genetic diversity and LD appear consistent with admixture rather than founding effects. [...] To evaluate admixture in the AJ population, we investigated the similarity between AJ and HGDP populations using PCA as well as a population clustering algorithm (32). Both analyses show that AJ individuals cluster between Middle Eastern and European populations (Fig. 2 A and B and Fig. S2A), corroborating other recent reports (13, 20, 22, 23, 25). Interestingly, our population clustering reveals that the AJ population shows an admixture pattern subtly more similar to Europeans than Middle Easterners (Fig. 2 A and C, Lower), while also verifying that the Ashkenazi Jews possess a unique genetic signature clearly distinguishing them from the other two regions (Fig. 2C, Upper). The fixation index, FST, calculated concurrently to the PCA, confirms that there is a closer relationship between the AJ and several European populations (Tuscans, Italians, and French) than between the AJ and Middle Eastern populations (Fig. S2B)."

Excerpts from pages 16223-16224:

"Although the proximity of the AJ and Italian populations could be explained by their admixture prior to the Ashkenazi settlement in Central Europe (13), it should be noted that different demographic models may potentially yield similar principal component projections (33); thus, it is also consistent that the projection of the AJ populations is primarily the outcome of admixture with || Central and Eastern European hosts that coincidentally shift them closer to Italians along principle component axes relative to Middle Easterners."

Excerpts from page 16224:

"We used the combined Palestinian and Druze populations to represent the Middle Eastern ancestor and tested three different European groups as the European ancestral population (SI Materials and Methods). Using these proxy ancestral populations, we calculated the amount of European admixture in the AJ population to be 35 to 55%. Previous estimates of admixture levels have varied widely depending on the chromosome or specific locus being considered (18), with studies of Y-chromosome haplogroups estimating from 5 to 23% European admixture (8, 9). Our higher estimate is in part a result of the use of different proxies for the Jewish ancestral population."

Excerpts from page 16226:

"Multiple studies have found that the 'lactase-persistence' allele at the LCT locus was selected for in Northern Europeans, with the selective sweep presumably occurring at the time of the domestication of cattle 2,000 to 20,000 y ago (42, 43). The absence of this allele in our data would suggest that the selective sweep was complete before the Ashkenazi establishment in Europe. Moreover, the prevalence of lactase deficiency in Ashkenazi Jews has been estimated at 60 to 80% (44), further corroborating the lack of selection for the LCT locus in the AJ population. [...] Intriguingly, the AJ population has long been known to have lower levels of alcoholism than other groups (16, 46), with one study showing that Jewish males have a 2.5-fold lower lifetime rate of alcohol abuse/dependence compared with non-Jews (47). [...] Our results, together with a recent study showing that variation in the ALDH2 promoter affects alcohol absorption in Jews (48), now suggest that genetic factors and selective pressure at the ALDH2 locus may have contributed to the low levels of alcoholism."

Quinn Eastman of Emory University with ScienceDaily staff. "Analysis of Ashkenazi Jewish Genomes Reveals Diversity, History." ScienceDaily (August 27, 2010). Excerpts:

"Common Genetic Threads Link Thousands of Years of Jewish Ancestry." ScienceDaily (June 4, 2010). Excerpts:

Razib Khan. "Genetics and the Jews." Discover Magazine - Gene Expression (June 6, 2010).

"Dienekes Pontikos". "Two Major Groups of Living Jews." dienekes.blogspot.com (June 3, 2010).

Alla Katsnelson. Jews worldwide share genetic ties: But analysis also reveals close links to Palestinians and Italians." Nature.com (June 3, 2010). Excerpts:

Sharon Begley. "The DNA of Abraham's Children." Newsweek Web Exclusive (June 3, 2010). Excerpts:

Andrea Anderson. "Study Points to Shared Genetic Patterns amongst Jewish Populations." GenomeWeb News (June 3, 2010). Excerpts:

Nicholas Wade. "In DNA, New Clues to Jewish Roots." The New York Times (May 14, 2002): F1 (col. 1). Excerpts:

Mark G. Thomas, Michael E. Weale, Abigail L. Jones, Martin Richards, Alice Smith, Nicola Redhead, Antonio Torroni, Rosaria Scozzari, Fiona Gratrix, Ayele Tarekegn, James F. Wilson, Cristian Capelli, Neil Bradman, and David B. Goldstein. "Founding Mothers of Jewish Communities: Geographically Separated Jewish Groups Were Independently Founded by Very Few Female Ancestors." The American Journal of Human Genetics 70:6 (June 2002): 1411-1420. The study collected mtDNA from about 600 Jews and non-Jews from around the world, including 78 Ashkenazic Jews and Georgians, Uzbeks, Germans, Berbers, Ethiopians, Arabs, etc. 17.9% of sampled Iraqi Jews have an mtDNA pattern known as U3, compared to 2.6% of Ashkenazic Jews, 0.9% of Moroccan Jews, 1.7% of ethnic Berbers, 1.1% of ethnic Germans, 0.0% of Iranian Jews, 0.0% of Georgian Jews, 0.0% of Bukharian Jews, 0.0% of Yemenite Jews, 0.0% of Ethiopian Jews, 0.0% of Indian Jews, 0.0% of Syrian Arabs, 0.0% of Georgians, 0.0% of Uzbeks, 0.0% of Yemeni Arabs, 0.0% of Ethiopians, 0.0% of Asian Indians, 0.0% of Israeli Arabs. (According to Vincent Macaulay, U3 is found also among some Turks, Iraqis, Caucasus tribes, Alpine Europeans, North Central Europeans, Kurds, Azerbaijanis, Eastern Mediterranean Europeans, Central Mediterranean Europeans, Western Mediterranean Europeans, and southeastern Europeans.) Another pattern, called Haplotype I, was found among 12.1% of Bukharan Jews, 2.6% of Ashkenazic Jews, 1.8% of Iraqi Jews, 1.3% of Iranian Jews, 1.1% of ethnic Germans, and 2.4% of ethnic Asian Indians, and none of the other groups among individuals tested. (According to Vincent Macaulay, Haplotype I is found also among some Northeastern Europeans, North Central Europeans, Caucasus tribes, Northwestern Europeans, and Scandinavians.) Yet another pattern, called Haplotype J1, was found among 12.5% of Iraqi Jews, 2.7% of Iranian Jews, 9.2% of Yemenite Jews, and 1.7% of Israeli Arabs, and none of the other groups among individuals tested. (According to Vincent Macaulay, Haplotype J1 is found also among some Iraqi Arabs, Bedouins, Palestinian Arabs, and Azerbaijanis.) To compare with Vincent Macaulay's research on mtDNA, visit Supplementary data from Richards et al. (2000). Abstract:

Martin Richards. "Beware the gene genies." The Guardian (February 21, 2003). Excerpts:

Page 1104: "It is worth mentioning that, on the basis of protein polymorphisms [which are not to be confused with Y chromosome polymorphisms], most Jewish populations cluster very closely with Iraqis (Livshits et al. 1991) that the latter, in turn, cluster very closely with Kurds (Cavalli-Sforza et al. 1994)."

At Table 1: Y Chromosome Haplogroup Distribution, it is indicated that 11.6 percent of Muslim Kurds and 9.4 percent of Bedouins also have Eu 19 chromosomes; hence, genetic drift rather than admixture with East Europeans may theoretically explain Eu 19's presence among Ashkenazi Jews. On the other hand, the origin of Eu 19 (now known as R1a1) is from eastern Europe thousands of years ago, perhaps the kurgan culture, and is found in much higher quantities among Slavs (like Sorbs, Belarusians, Ukrainians, and Poles) than any Middle Eastern tribe. For further data consult figure 1 in Ornella Semino, et al., "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective," Science 290(5494) (Nov. 10, 2000): 1155-1159, as well as the 2003 Levite study referenced here. [Update added December 21, 2013: The Ashkenazic Levite variety of R1a1, sometimes called R1a-M582, was later found to be from an Iranian source rather than an East European source.]

In Figure 3 of Nebel et al.'s 2001 paper, it can be seen that while some Muslim Kurds possess the Cohen Modal Haplotype (at a frequency of 0.011), and even some Palestinian Arabs do (at a frequency of 0.021), more Muslim Kurds (0.095) have a haplotype that is a different Y DNA lineage, with a different allele number in one of the six microsatellite locis. Figure 3 is also interesting since it shows that 0.021 of Palestinian Arabs have the Cohen Modal Haplotype.

Judy Siegel. "Genetic evidence links Jews to their ancient tribe." Jerusalem Post (November 20, 2001). Excerpts:

"Study: North African, Iraqi Jewry nearly genetic twins." Jerusalem Post (November 19, 2001). Excerpts:

Tamara Traubman. "Study finds close genetic connection between Jews, Kurds." Ha'aretz (November 21, 2001). Excerpts:

"The Jewish World: This Week in Israel." Global Jewish Agenda (Jewish Agency for Israel, November 22, 2001). Excerpts:

"Evrei i kurdi - brat'ya po genam." MIGnews.com (Media International Group)

Max Gross. "'A Certain People': Study Confirms Deep Similarities Among Jews." Forward (August 16, 2002): B11. Excerpts:

"Jews and Arabs Share Recent Ancestry." Science Now (American Academy for the Advancement of Science, October 30, 2000). In the last sentence, it is admitted that European Jews mixed with groups residing in Europe. Excerpts:

Judy Siegel. "Experts find genetic Jewish-Arab link." Jerusalem Post (November 6, 2000). Despite its merits, this study uses a small sample size and an improbable set of test subjects. It is puzzling that the Northern Welsh were tested, because it's obvious that they are farther away from European Jews than Arabs. Why were they tested instead of the Serbs, Romanians, Italians, or Austrians - groups which, unlike the Welsh, had significant contact with Jews over the centuries? The selection of groups influences the results of any genetics study. Notice, however, that even according to this test, somewhere between 20 and 30 percent of the Jews do NOT have paternal-line ancestry from Israel. Excerpts:

Nicholas Wade. "Scientists Rough Out Humanity's 50,000-Year-Old Story." The New York Times (November 14, 2000). Excerpts:

Tamara Traubman. "A new study shows that the genetic makeup of Jews and Arabs is almost identical, and that both groups share common prehistoric ancestors." Ha'aretz (2000). Excerpts:

Nadine Epstein. "Family Matters: Funny, We Don't Look Jewish." Hadassah Magazine 82:5 (January 2001). Excerpts:

The assertion of Ostrer that Yiddish comes from Alsace and Rhineland has been debunked by solid research showing that Yiddish derives from Bavaria. Yiddish is clearly a form of High German, too, and not Low German. Epstein's article demonstrates a lack of linguistic knowledge.

Christopher Hitchens. "The Part-Jewish Question: Double the Pleasure or Twice the Pain? Of 'Semi-Semites' and Those Who Fear Them." Forward (January 26, 2001). Excerpts:

Hillel Halkin. "Wandering Jews -- and Their Genes." Commentary 110:2 (September 2000): 54-61. Excerpts:

Michael F. Hammer, Alan J. Redd, Elizabeth T. Wood, M. R. Bonner, Hamdi Jarjanazi, Tanya Karafet, A. Silvana Santachiara-Benerecetti, Ariella Oppenheim, Mark A. Jobling, Trefor Jenkins, Harry Ostrer, and Batsheva Bonn-Tamir. "Jewish and Middle Eastern non-Jewish Populations Share a Common Pool of Y-chromosome Biallelic Haplotypes.", PNAS 97:12 (June 6, 2000): 6769-6774. Summary:

According to Mark Jobling, "Jews are the genetic brothers of Palestinians, Lebanese, and Syrians".

Some revealing comments from the study's geneticists: Dina Kraft's May 9, 2000 article in the Associated Press quotes Hebrew University geneticist Howard Cedar who "said even though Y chromosomes are considered the best tool for tracing genetic heritage, researchers still don't know what the history is behind the variations. As a result, it is difficult to draw conclusions about genetic affinity.." The article also quotes Batsheva Bonne-Tamir, a Tel Aviv University geneticist, who "cautioned that the techniques were new and that until the human genome is mapped, it will be difficult to be certain about the conclusions."

"To say that Jews are somehow homogeneous across the entire diaspora is completely fallacious," says Ken Jacobs of the University of Montreal. "There is so much incredible genetic heterogeneity within the Jewish community -- any Jewish community." Jewish people simply don't exhibit the genetic homogeneity that [Kevin] MacDonald ascribes to them, Jacobs says. According to an Jacobs' views as summarized in an article in the New Times Los Angeles Online (April 20-26, 2000), "Witness For The Persecution" by Tony Ortega: "The only Jewish subgroup that does show some homogeneity -- descendants of the Cohanim, or priestly class -- makes up only about 2 percent of the Jewish population. Even within the Cohanim, and certainly within the rest of the Jewish people, there's a vast amount of genetic variation that simply contradicts MacDonald's most basic assertion that Jewish genetic sameness is a sign that Judaism is an evolutionary group strategy." In H-ANTISEMITISM, Ken Jacobs added: "Hammer's Jewish samples are heavily skewed towards the Kohanim... This is bound to reduce within-population variance in the Jewish sample... I pointed out solely that the data reported for the Jewish samples in the recent PNAS were remarkably similar to those published previously in studies of which Hammer was a co-author, the focus of which was the Kohanim... There is an ahistorical aspect to this work, as well as a serious conflation of genes, ethnicity, and religious belief. For example, as used in Hammer's study, the distinction between 'Syrian' and 'Palestinian' is based on fairly recent geo-political constructs that have little or no bearing on the patterns of gene flow in the region prior to 1000 CE.... In the original Lemba study, the complex of Y-chromosome genes was found in 45% of Kohanim among Ashkenazim, the percentage was 56% of Kohanim among the Sepharad, and 53% among the Buba clan of the Lemba. Among non-Kohanim the average Jewish % for this gene complex is less than 5%. One does not have to understand the lingo to see that there was inbreeding in one part of the dispersed Jewish communities and a certain level of outbreeding in the rest."

John Tooby, Professor of Anthropology at the University of California at Santa Barbara, is quoted in an article for Slate's "Culturebox" by Judith Shulevitz as saying: "The notion that Jews are a genetically distinct group doesn't make it on the basis of modern population genetics."

Chris Garifo. "U of A researcher heads breakthrough genetic study." Jewish News of Greater Phoenix 52:37 (May 19, 2000). Excerpts:

Ivan Oransky. "Tracing Mideast Roots Back to Isaac and Ishmael: Study of Y Chromosome Suggests a Common Ancestry for Jews and Arabs." The Forward (May 19, 2000). Excerpts:

Hillary Mayell. "Genetic Link Established Between Jews and Arabs." National Geographic News (May 10, 2000).

"Jews and Arabs are 'genetic brothers'." BBC News (May 10, 2000). Excerpts:

Nicholas Wade. "Y Chromosome Bears Witness to Story of the Jewish Diaspora." The New York Times (May 9, 2000): F4 (col. 1). Excerpts:

Norton Godoy. "Judeus e rabes: irmos." Isto (2000).

R. Highfield. "Jews, Arabs share ancestral link, study says." Calgary Herald (May 9, 2000): A19.

Marilynn Larkin. "Jewish-Arab affinities are gene-deep." The Lancet 355 (2000): 1699.

Maggie Fox. "Middle Eastern Roots: Shared Y Chromosome Illustrates Genetic Map of the Past." Reuters (May 9, 2000).

Joel J. Elias. "The Genetics of Modern Assyrians and their Relationship to Other People of the Middle East." Assyrian Health Network (July 20, 2000). Excerpts:

"North African Jews show slightly elevated membership in the k2 component prevalent in African populations. Similarly, in the Ashkenazi Jews, the proportion of the largely European k5 component is somewhat larger than that in the Sephardi Jews (23% vs. 16%). Within the Ashkenazi Jews from Eastern and Central Europe, we do see a signal (2.2%) of components common in East Asia that are less visible in Ashkenazi Jews from Western Europe or European Sephardi Jews (0.6%)."

Excerpts from page 882:

"Admixture demonstrates the connection of Ashkenazi, North African, and Sephardi Jews, with the most similar non-Jewish populations to Ashkenazi Jews being Mediterranean Europeans from Italy (Sicily, Abruzzo, Tuscany), Greece, and Cyprus. When subtracting the k5 component, which perhaps originates in Ashkenazi and Sephardi Jews from admixture with European hosts, the best matches for membership patterns of the Ashkenazi Jews shift to the Levant: Cypriots, Druze, Lebanese, and Samaritans. [...] Considering the IBD threshold of 3 Mb for shared segments, Ashkenazi Jews are expected to show no significant IBD sharing with any population from which they have been isolated for [approximately more than] 20 generations. [...] Ashkenazi Jews show significant IBD sharing only with Eastern Europeans, North African Jews, and Sephardi Jews."

Agence France-Presse. "Study confirms Jewish Middle East origins." Sydney Morning Herald, June 11, 2010. Excerpt:

Alla Katsnelson. "Genes link Jewish communities, take 2." Nature: The Great Beyond (June 9, 2010). Excerpt:

Razib Khan. "Genetics and the Jews (it's still complicated.)" Discover Magazine - Gene Expression (June 10, 2010). Excerpts:

Excerpts from the body of the article:

Martin Richards. "New information is discovered about the ancestry of Ashkenazi Jews." Press release released October 8, 2013. Excerpts:

Nicholas Wade. "Genes Suggest European Women at Root of Ashkenazi Family Tree." The New York Times (October 9, 2013). Excerpts:

Jon Entine. "Ashkenazi Jewish Women Descended Mostly from Italian Converts, New Study Asserts." Genetic Literacy Project (October 8, 2013). Excerpts:

Kate Yandell. "Genetic Roots of the Ashkenazi Jews." The Scientist Magazine (October 8, 2013). Excerpts:

Eva Fernndez, Alejandro Prez-Prez, Cristina Gamba, Eva Prats, Pedro Cuesta, Josep Anfruns, Miquel Molist, Eduardo Arroyo-Pardo, and Daniel Turbn. "Ancient DNA Analysis of 8000 B.C. Near Eastern Farmers Supports an Early Neolithic Pioneer Maritime Colonization of Mainland Europe through Cyprus and the Aegean Islands." PLoS Genetics 10:6 (June 5, 2014): e1004401. Some ancient skeletons from the "Pre-Pottery Neolithic B" ("PPNB") sites at Tell Halula and Tell Ramad in what's now Syria had the "K" mtDNA haplogroup. This PPNB population genetically clusters with the modern-day Ashkenazi Jews, Csng people, and the population of Cyprus, who all have high frequencies of "K". (Modern Syrians are in a different cluster.) The evidence weighs against Costa et al.'s interpretation that the "K" haplogroups that Ashkenazim possess reflect European ancestors rather than Middle Eastern ones. Fernndez et al. wrote:

Shai Carmi, Ethan Kochav, Ken Y. Hui, Xinmin Liu, James Xue, Fillan Grady, Saurav Guha, Kinnari Upadhyay, Semanti Mukherjee, B. Monica Bowen, Joseph Vijai, Ariel Darvasi, Kenneth Offit, Laurie J. Ozelius, Inga Peter, Judy H. Cho, Harry Ostrer, Gil Atzmon, Lorraine N. Clark, Todd Lencz, and Itsik Pe'er. "The Ashkenazi Jewish Genome." A paper presented at the annual meeting of The American Society of Human Genetics (ASHG) in October 22-26, 2013 in Boston, Massachusetts. The researchers sequenced 128 complete genomes from Ashkenazi Jews. From their results they estimate that about 55 percent plus or minus 2 percentage points of Ashkenazi ancestry derives from European peoples.

Shai Carmi, Ken Y. Hui, Ethan Kochav, Xinmin Liu, James Xue, Fillan Grady, Saurav Guha, Kinnari Upadhyay, Dan Ben-Avraham, Semanti Mukherjee, B. Monica Bowen, Tinu Thomas, Joseph Vijai, Marc Cruts, Guy Froyen, Diether Lambrechts, Stphane Plaisance, Christine Van Broeckhoven, Philip Van Damme, Herwig Van Marck, Nir Barzilai, Ariel Darvasi, Kenneth Offit, Susan Bressman, Laurie J. Ozelius, Inga Peter, Judy H. Cho, Harry Ostrer, Gil Atzmon, Lorraine N. Clark, Todd Lencz, and Itsik Pe'er. "Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins." Nature Communications 5 (September 9, 2014): article number 4835. The complete genomes of 128 Ashkenazi Jewish individuals were examined. Based on their analysis, the authors estimate that Ashkenazi Jews are about 46-50% of European origin, sharing ancestry with Western Europeans like the Flemish, who were also sampled in this study. The authors state that the other contributing population to Ashkenazic genetics are Middle Easterners. Their model suggests the present Ashkenazic population was founded after a bottleneck that occurred 25 to 32 generations ago, that is about "600-800 years" ago. The Ashkenazim have higher heterozygosity than non-Jewish Europeans yet descend from "a recent bottleneck of merely ~350 individuals." Page 63 of their "Supplementary Information" under "Reasons for increased heterozygosity" asserts "Additionally, AJ genomes were shown to have ~3% West-African ancestry." This is highly questionable as the authors cite not their own data to support this claim, but rather the methodologically-flawed study "The history of African gene flow into Southern Europeans, Levantines, and Jews" by Moorjani et al. that appeared in PLoS Genetics 7 in 2011. Most other admixture tests have shown zero or at most 0.1% Sub-Saharan West African/Negroid) ancestry in Ashkenazi individuals, and only tiny amounts of East African as well. Neither the Supplementary Information provided by Carmi et al. nor their main article discuss the evidence for small amounts of East Asian and Slavic ancestry in Eastern Ashkenazi Jews. Excerpt from the Abstract:

Karen Kaplan. "DNA ties Ashkenazi Jews to group of just 330 people from Middle Ages." Los Angeles Times (September 9, 2014). Excerpts:

Jesse Emspak. "Oy Vey! European Jews Are All 30th Cousins, Study Finds." LiveScience (September 9, 2014). Excerpts:

Alkes L. Price, Johannah Butler, Nick Patterson, Cristian Capelli, Vincenzo L. Pascali, Francesca Scarnicci, Andres Ruiz-Linares, Leif Groop, Angelica A. Saetta, Penelope Korkolopoulou, Uri Seligsohn, Alicja Waliszewska, Christine Schirmer, Kristin Ardlie, Alexis Ramos, James Nemesh, Lori Arbeitman, David B. Goldstein, David E. Reich, and Joel N. Hirschhorn. "Discerning the Ancestry of European Americans in Genetic Association Studies." Public Library of Science Genetics (PLoS Genetics) (January 2008). Sampled Southern Italians (Sicilians as well as those on the mainland), and other Europeans - 4,198 individuals in all. Excerpts:

Chao Tian, Roman Kosoy, Rami Nassir, Annette Lee, Pablo Villoslada, Lars Klareskog, Lennart Hammarstrm, Henri-Jean Garchon, Ann E. Pulver, Michael Ransom, Peter K. Gregersen, and Michael F. Seldin. "European Population Genetic Substructure: Further Definition of Ancestry Informative Markers for Distinguishing among Diverse European Ethnic Groups." Molecular Medicine vol. 15(11-12) (November 2009), pages 371-383. Sampled people from Italy (Lombards, Tuscans, Sardinians, Southern Italian-Americans living in New York) and Ashkenazi Jews to genotype them for 300,000 autosomal SNPs. Excerpts:

Chao Tian, Robert M. Plenge, Michael Ransom, Annette Lee, Pablo Villoslada, Carlo Selmi, Lars Klareskog, Ann E. Pulver, Lihong Qi, Peter K. Gregersen, and Michael F. Seldin. "Analysis and Application of European Genetic Substructure Using 300 K SNP Information." Public Library of Science Genetics (PLoS Genetics) (January 2008). Abstract excerpt:

Michael F. Seldin, Russell Shigeta, Pablo Villoslada, Carlo Selmi, Jaakko Tuomilehto, Gabriel Silva, John W. Belmont, Lars Klareskog, and Peter K. Gregersen. "European Population Substructure: Clustering of Northern and Southern Populations." Public Library of Science Genetics (PLoS Genetics) 2(9) (September 2006). Abstract:

Talia Bloch. "One Big, Happy Family: Litvaks and Galitzianers, Lay Down Your Arms; Science Finds Unity in the Jewish Gene Pool." Forward (August 22, 2007). Excerpts:

Anna C. Need, Dalia Kasperaviiute, Elizabeth T. Cirulli, and David B. Goldstein. "A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans." Genome Biology 10(1) (2009): R7 (electronically published on January 22, 2009). Excerpts:

Marc Haber, Dominique Gauguier, Sonia Youhanna, Nick Patterson, Priya Moorjani, Laura R. Botigu, Daniel E. Platt, Elizabeth Matisoo-Smith, David F. Soria-Hernanz, R. Spencer Wells, Jaume Bertranpetit, Chris Tyler-Smith, David Comas, and Pierre A. Zalloua. "Genome-Wide Diversity in the Levant Reveals Recent Structuring by Culture." PLoS Genetics 9(2) (February 28, 2013): e1003316. Participants in this study about the Levant region of West Asia included Sephardi Jews, Ashkenazi Jews, Palestinians, Lebanese Christians, Lebanese Druze, Lebanese Muslims, Syrians, Jordanians, Bedouins, Cypriots, Armenians, Saudis, Yemenis, Iranians, and multiple European, East/South/Central Asian, and African populations. Ashkenazi Jews and Sephardi Jews were found to be closely related to each other and more closely related to Lebanese than Palestinians are. Excerpts:

Doron M. Behar, Ene Metspalu, Toomas Kivisild, Alessandro Achilli, Yarin Hadid, Shay Tzur, Luisa Pereira, Antonio Amorim, Llus Quintana-Murci, Kari Majamaa, Corinna Herrnstadt, Neil Howell, Oleg Balanovsky, Ildus A. Kutuev, Andrey Pshenichnov, David Gurwitz, Batsheva Bonne-Tamir, Antonio Torroni, Richard Villems, and Karl Skorecki. "The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event." American Journal of Human Genetics 78 (2006): 487-497. Abstract:

Judy Siegel. "40% Ashkenazim come from matriarchs." Jerusalem Post (January 13, 2006). Excerpts:

Nicholas Wade. "New Light on Origins of Ashkenazi in Europe." The New York Times (January 14, 2006): A12. Excerpts:

Malcolm Ritter. "Study: Most Ashkenazi Jews from four women." Associated Press (January 12, 2006). Excerpts:

Maggie Fox. "Study finds why Jewish mothers are so important." Reuters (January 13, 2006). Excerpts:

Donald Macintyre. "3.5 million Ashkenazi Jews 'traced to four female ancestors'." The Independent (January 14, 2006).

"'Four mothers' for Europe's Jews." BBC News (January 13, 2006). Excerpts:

Hillel Halkin. "Jews and Their DNA." Commentary Magazine 126:2 (September 2008): beginning on page 37. Excerpts:

David B. Goldstein. "In Jewish Genetic History, the Known Unknowns." Forward (August 28, 2009). Excerpts:

Almut Nebel, Dvora Filon, Marina Faerman, Himla Soodyall, and Ariella Oppenheim. "Y chromosome evidence for a founder effect in Ashkenazi Jews." European Journal of Human Genetics 13:3 (March 2005): 388-391. Preceded by advance electronic publication on November 3, 2004. This study focuses on one of the two main non-Mideastern Y-DNA lineages among Ashkenazic Jewish men: haplogroup R1a1 (the other is haplogroup Q). Abstract:

Mait Metspalu, Doron M. Behar, Y. Baran, Saharon Rosset, N. Kopelman, Bayazit Yunusbayev, A. Gladstein, Michael F. Hammer, Shay Tzur, E. Halperin, Karl Skorecki, Richard Villems, and Noah A. Rosenberg. "No indication of Khazar genetic ancestry among Ashkenazi Jews." A paper presented at the annual meeting of The American Society of Human Genetics (ASHG) in October 22-26, 2013 in Boston, Massachusetts. Some of the comparisons here are of questionable utility since the Khazars did not descend originally from the ancient peoples of the Caucasus and there is no proof that modern Caucasus peoples are descended from Khazars. So, the study doesn't directly test for Khazarian descent. Excerpts from the Abstract:

Doron M. Behar, Daniel Garrigan, Matthew E. Kaplan, Zahra Mobasher, Dror Rosengarten, Tatiana M. Karafet, Lluis Quintana-Murci, Harry Ostrer, Karl Skorecki, and Michael F. Hammer. "Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations." Human Genetics 114:4 (March 2004): 354-365. 442 Ashkenazi Jews were sampled for this study and differentiated according to geographic, religious, and ethno-historical subcategories like "Byelorussian Jews" and "Dutch Jews". In Table 2 on page 357 we see that the mutation lineage designation R-M17, corresponding to haplogroup R1a1 (most often found among Ashkenazi Levites), is found at a frequency of 0.075 among the Ashkenazi Jews as a whole in this study, and at a frequency of 0.264 among the Non-Jewish Europeans (French, Germans, Austrians, Hungarians, Poles, Romanians, and Russians) in the study. Excerpts:

Doron M. Behar, Michael F. Hammer, Daniel Garrigan, Richard Villems, Batsheva Bonne-Tamir, Martin Richards, David Gurwitz, Dror Rosengarten, Matthew Kaplan, Sergio Della Pergola, Lluis Quintana-Murci, and Karl Skorecki. "MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population." European Journal of Human Genetics 12:5 (May 2004): 355-364. (Advance online publication on January 14, 2004.) An observer who read the study indicates that the study shows that approximately 60 percent of European Jewish maternal roots come from European sources, with the other 40 percent from Middle Eastern or Asian roots. Abstract excerpt:

Bayazit Yunusbayev, Mait Metspalu, Mari Jrve, Ildus A. Kutuev, Siiri Rootsi, Ene Metspalu, Doron M. Behar, Krt Varendi, Hovhannes Sahakyan, Rita Khusainova, Levon Yepiskoposyan, Elza K. Khusnutdinova, Peter A. Underhill, Toomas Kivisild, and Richard Villems. "The Caucasus as an asymmetric semipermeable barrier to ancient human migrations." Molecular Biology and Evolution For future print publication. First published online on September 13, 2011. Among many other peoples of the Caucasus, 10 Mountain Jews were sampled to evaluate their haplogroups. These Mountain Jews' Y-DNA haplogroups were as follows: 3 belonged to haplogroup J1e*, 4 to J2a*, 1 to J2a2*, and 2 to L2. These haplogroups suggest overwhelmingly Near Eastern ancestry for the Mountain Jews' paternal lineages (represented by the J haplogroups) and a smaller South Asian element (represented by the L haplogroup).

Dror Rosengarten. "Y Chromosome Haplotypes Among Members of the Caucasus Jewish Communities." Proceedings of the 6th International Conference on Ancient DNA and Associated Biomolecules, July 21-25, 2002. Abstract excerpt:

Stefania Bertoncini, Kazima Bulayeva, Gianmarco Ferri, Luca Pagani, Laura Caciagli, Luca Taglioli, Igor Semyonov, Oleg Bulayev, Giorgio Paoli, and Sergio Tofanelli. "The Dual Origin of Tati-Speakers from Dagestan as Written in the Genealogy of Uniparental Variants." American Journal of Human Biology 24:4 (July/August 2012): pages 391-399. First published online on January 24, 2012. They genetically tested the Y-DNA and mtDNA of two Tat-speaking peoples who live in Daghestan in southern Russia: the Mountain Jews (also called Juhurim) and Muslim Tats. The two communities speak different dialects of the Tat language. The genetics of the Jewish and Muslim Tat speakers were found to be quite different, with the authors saying that they "do not reflect a common ancestry." The Mountain Jews were shown to be "a group with tight matrilineal genetic legacy who separated early from other Jewish communities." In the section "Analysis of paternal lineages", the authors indicate that the dominant Y-DNA haplogroup in Mountain Jews is G-M201 (3M285, P15, and M287), representing 36.8% of their total paternal lineages. The Mountain Jews' branch of G doesn't match the G sublineages of "two major Caucasian linguistic domains" nor does their branch cluster with the G STR Y-DNA haplotypes of Ashkenazim that were reported in Behar et al. 2004 and Hammer et al. 2009. The researchers were surprised that the Mountain Jews' kinds of G "can be separated into at least two divergent clades falling many mutational steps away from any G haplotype ever published before [...] One of these clades is defined by a very peculiar incomplete allele, DYS448*17.4, most likely the results of a deletion external to the repeat units." They also make this observation: "In the MJ [Mountain Jews], the highest level of haplotype sharing (lowest DHS values at the nine-locus level of analysis) was observed with autochthonous groups from Dagestan (Tabasarans, Kubachians, and Laks) and the Jews from Afghanistan". The Y-DNA haplogroup that Mountain Jews share with Tabasarans, called J1*-M267, isn't the same haplogroup that's shared between Muslim Tats and Tabarasans; the two lineages are not even close.

Felice L. Bedford. "Sephardic signature in haplogroup T mitochondrial DNA." European Journal of Human Genetics 20 (2012): 441-448. First released electronically on November 23, 2011. Excerpts from the Abstract:

Christopher L. Campbell, Pier F. Palamara, Maya Dubrovsky, Laura R. Botigu, Marc Fellous, Gil Atzmon, Carole Oddoux, Alexander Pearlman, Li Hao, Brenna M. Henn, Edward Burns, Carlos D. Bustamante, David Comas Martnez, Eitan Friedman, Itsik Pe'er, and Harry Ostrer. "North African Jewish and non-Jewish populations form distinctive, orthogonal clusters." Proceedings of the National Academy of Sciences USA (PNAS). Scheduled for print publication. First published online on August 6, 2012. This investigates the roots of five Jewish populations from North Africa (Moroccan, Algerian, Tunisian, Djerban, and Libyan Jews) and compares them to various Jewish and non-Jewish groups. The researchers found evidence that North African Jews descend from ancient Israelites as well as North African converts to Judaism and confirmed that they intermarried with Sephardic Jews who settled there during the Inquisition era. The degree to which the North African Jewish groups descend from Europeans varied. The study was able to separate Moroccan and Algerian Jews from Djerban and Libyan Jews. The PCA analysis and structure analysis showed that non-Jews of North Africa have more sub-Saharan African ancestry than Jews from North Africa do, confirming earlier studies like Behar et al. 2008.

Dan Even. "International genetic study traces Jewish roots to ancient Middle East." Ha'aretz (August 8, 2012). Excerpts:

A. L. Non, A. Al-Meeri, R. L. Raaum, L. F. Sanchez, and C. J. Mulligan. "Mitochondrial DNA reveals distinct evolutionary histories for Jewish populations in Yemen and Ethiopia." American Journal of Physical Anthropology 144:1 (January 2011): pages 1-10. First published online on July 7, 2010. This study of mtDNA included 45 Yemenite Jewish participants, 41 Ethiopian Jewish paticipants, 50 Yemenite non-Jewish participants, and some Ethiopian non-Jewish participants who speak Semitic language(s). The results showed Yemenite Jews and Ethiopian Jews both have high frequencies of "sub-Saharan African L haplogroups [...] indicating a significant African maternal contribution unlike other Jewish Diaspora populations. However, no identical haplotypes were shared between the Yemenite and Ethiopian Jewish populations, suggesting very little gene flow between the populations and potentially distinct maternal population histories." The authors explain that Ethiopian Jews are maternally Ethiopian rather than Israelite in origin, but they think Yemenite Jews partially have "potential descent from ancient Israeli exiles" and don't believe they have much ethnic Yemenite ancestry.

Noah A. Rosenberg, Eilon Woolf, Jonathan K. Pritchard, Tamar Schaap, Dov Gefel, Isaac Shpirer, Uri Lavi, Batsheva Bonn-Tamir, Jossi Hillel, and Marcus W. Feldman. "Distinctive genetic signatures in the Libyan Jews." Proceedings of the National Academy of Sciences USA (PNAS) 98:3 (January 30, 2001): 858-863. (Mirror) Excerpts:

Yedael Y. Waldman , Arjun Biddanda , Natalie R. Davidson, Paul Billing-Ross, Maya Dubrovsky, Christopher L. Campbell, Carole Oddoux, Eitan Friedman, Gil Atzmon, Eran Halperin, Harry Ostrer, and Alon Keinan. "The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry." PLoS ONE 11:3 (March 24, 2016): e0152056. Autosomal DNA analysis shows that the Bene Israel community of western India was formed by intermarriage between Middle Eastern Jewish men and local Indian women. 18 Bene Israel individuals were compared with hundreds of representatives of Jewish and non-Jewish populations. They have increased lengths of identical-by-descent matches with Jewish populations from outside of India, including Mizrahi Jews, compared to any other population within India or Pakistan. A weakness of this study is that it doesn't compare the Bene Israel against any non-Jewish population from the eastern Middle East (Iran/Iraq area).

Aleza Goldsmith. Jews and Arabs share genes, Stanford research scientist says." Jewish Bulletin of Northern California (March 9, 2001). Excerpts:

Peter A. Underhill, P. Shen, A. A. Lin, L. Jin, G. Passarino, W. H. Yang, E. Kauffman, Batsheva Bonn-Tamir, J. Bertranpetit, P. Francalacci, M. Ibrahim, T. Jenkins, J. R. Kidd, S. Q. Mehdi, M. T. Seielstad, R. S. Wells, A. Piazza, R. W. Davis, M. W. Feldman, Luigi Luca Cavalli-Sforza, and P. J. Oefner. "Y chromosome sequence variation and the history of human populations." Nature Genetics 26 (2000): 358-361. Sequence information for the 167 Y chromosome markers.

View post:
Jewish Genetics, Part 1: Jewish Populations (Ashkenazim ...

Related Posts

Comments are closed.

Archives