Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations

Kopelman, Naama M.; Stone, Lewi; Wang, Chaolong; Gefel, Dov; Feldman, Marcus W.; Hillel, J.; Rosenberg, Noah A.

doi:10.1186/1471-2156-10-80

Cited by 44 publications

(62 citation statements)

References 56 publications

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“…Contemporary Jewish communities have been genetically analyzed both from population genetics and medical perspectives by means of uniparental and recombining markers, [10][11][12][13][14][15][16][17] and more recently also through genome-wide approaches. [18][19][20][21][22][23] However, only a few reports have been published on Sephardic and crypto-Jewish descendants.…”

Section: Introductionmentioning

confidence: 99%

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

et al. 2014

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The majority of genetic studies on Jewish populations have been focused on Ashkenazim, and genetic data from the Sephardic original source, the Iberian Peninsula, are particularly scarce. Regarding the mitochondrial genome, the available information is limited to a single Portuguese village, Belmonte, where just two different lineages (a single one corresponding to 93.3%) were found in 30 individuals. Aiming at disclosing the ancestral maternal background of the Portuguese Jewry, we enlarged the sampling to other crypto-Jewish descendants in the Braganc¸a district (NE Portugal). Fifty-seven complete mtDNA genomes were newly sequenced and -in contrast with Belmonte -a high level of diversity was found, with five haplogroups (HV0b, N1, T2b11, T2e and U2e) being putatively identified as Sephardic founding lineages. Therefore -in sharp contrast with Belmonte -these communities have managed to escape the expected inbreeding effects caused by centuries of religious repression and have kept a significant proportion of the Sephardic founder gene pool. This deeper analysis of the surviving Sephardic maternal lineages allowed a much more comprehensive and detailed perspective on the origins and survival of the Sephardic genetic heritage. In line with previously published results on Sephardic paternal lineages, our findings also show a surprising resistance to the erosion of genetic diversity in the maternal lineages.

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Section: Introductionmentioning

confidence: 99%

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

et al. 2014

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“…Admixture estimates using markers at a few autosomal loci or based on STRUCTURE clustering results have also shown much higher European admixture than reflected in the Y chromosome (13,18,19). Furthermore, recent studies have found no increase in LD at short distances between markers and suggest increased heterozygosity compared with Europeans, concluding that the AJ population is likely an older and larger population that is distinguished by its Middle Eastern origin, rather than the effect of population bottlenecks (20)(21)(22).To better understand the genome-wide genetic structure of the AJ population and search for genetic signatures of founder events, we genotyped 471 unrelated AJ individuals at 732k autosomal SNPs. Our analysis of this large cohort clarifies many inconsistencies described above, establishing that the AJ population has had substantial admixture with European populations, increasing its genetic diversity and LD, yet maintaining a significant level of founder haplotypes identical-by-descent.…”

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confidence: 99%

Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population

Bray¹,

Mullé²,

Dodd³

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

116

119

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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.he 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). Population isolates are frequently used in genetic research, as such groups are presumed to have reduced genetic diversity, along with increased frequencies of recessive disorders, identity-by-descent (IBD), and linkage disequilibrium (LD) as the result of founder events and population bottlenecks (2, 3). Accordingly, the AJ population is often the subject of Mendelian and complex disease studies, although evidence that the AJ population carries all of the hallmarks of a genetic isolate has not been fully established.The most compelling genetic evidence of founder events in the AJ population is the elevated frequency of at least 20 rare recessive diseases attributed to genetic drift following bottlenecks. Coalescence times ascribed to founder mutations for some of these diseases correspond well with historical migrations or episodes of extreme persecution, supporting the argument for genetic drift (1, 4, 5). Strong evidence of founder events also comes from studies of mitochondrial DNA (mtDNA), which show significantly less diversity of mtDNA haplotypes among the AJ population (6, 7). Ychromosome studies also indicate only a low amount of admixture with neighboring Europeans (8-10). Additionally, some reports have measured higher LD in the AJ genome compared with reference p...

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“…This supports the inclusion of Druze individuals (along with Palestinians and Bedouins) in Middle-Eastern reference panels in previous population genetic studies. [35][36][37][38] The data also show, perhaps surprisingly, that Druze communities from different locales are closer to each other than to other Middle-Eastern groups, consistently with the Druze's strict ban on intermarriage. Yet, each of the four communities studied (Galilee, Golan, Carmel, and Lebanon) was genetically distinct, even the more geographically proximate Israeli communities.…”

Section: Discussionmentioning

confidence: 52%

Genotyping of geographically diverse Druze trios reveals substructure and a recent bottleneck

et al. 2014

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Druze individuals rarely marry outside their faith (often practicing consanguinity) and are thus believed to form a genetic isolate. To comprehensively characterize the genetic structure of the Druze population, we recruited and genotyped 40 parent-offspring trios from the Upper Galilee in Israel and the Golan Heights, attempting to capture different extended families (clans) across various geographical locations. Principal component (PC) and ADMIXTURE analyses demonstrated that Druze are close to, yet distinct from, other Middle-Eastern groups (Bedouins and Palestinians), supporting the Druze's Middle-Eastern origin and their recent genetic isolation. Reconstruction of the Druze demographic history using identical-by-descent (IBD) segments suggested an ≈15-fold reduction in population size taking place ≈22-47 generations ago, close to the documented time of the foundation of the Druze faith at the 11th century. Combining the Galilee and Golan Druze genotypes with previously published data on Druze from the Carmel (Israel) and Lebanon demonstrated that all four Druze communities are genetically distinct. The Lebanese group shared less IBD segments (within the group and with other groups) compared with the Israeli Druze and showed higher heterozygosity (suggesting less consanguinity), but was less diverse in PC space. These findings suggest complex recent and ancient demographic history of the Druze population.

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Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations

Cited by 44 publications

References 56 publications

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population

Genotyping of geographically diverse Druze trios reveals substructure and a recent bottleneck

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