Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

  title={Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations},
  author={Doron M Behar and Daniel Garrigan and Matthew E. Kaplan and Zahra Mobasher and Dror Rosengarten and Tatiana Karafet and Llu{\'i}s Quintana-Murci and Harry Ostrer and Karl Skorecki and Michael F. Hammer},
  journal={Human Genetics},
The molecular basis of more than 25 genetic diseases has been described in Ashkenazi Jewish populations. Most of these diseases are characterized by one or two major founder mutations that are present in the Ashkenazi population at elevated frequencies. One explanation for this preponderance of recessive diseases is accentuated genetic drift resulting from a series of dispersals to and within Europe, endogamy, and/or recent rapid population growth. However, a clear picture of the manner in… 
Genetic differentiation of Jewish populations.
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The population genetics of the Jewish people
The population genetic architecture of Jews helps to explain the observed patterns of health and disease-relevant mutations and phenotypes which continue to be carefully studied and catalogued, and represent an important resource for human medical genetics research.
Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood
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Mitochondrial DNA sequence variation in Jewish populations
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Implications for health and disease in the genetic signature of the Ashkenazi Jewish population
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Population Genetics of the Ashkenazim
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The genetic variation in the R1a clade among the Ashkenazi Levites’ Y chromosome
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Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities.
The genetic composition of the Portuguese Jewish communities from Trás-os-Montes is examined, with a high-resolution Y-chromosome typing strategy, to clarify how these communities avoided the expected inbreeding caused by over four centuries of religious repression.
Mitochondrial and Y chromosome haplotype motifs as diagnostic markers of Jewish ancestry: a reconsideration
Several authors have proposed haplotype motifs based on site variants at the mitochondrial genome (mtDNA) and the non-recombining portion of the Y chromosome (NRY) to trace the genealogies of Jewish


MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population
Diversity patterns in mitochondrial DNA (mtDNA) hypervariable segment 1 (HVS-1) sequence and restriction site polymorphisms in 565 Ashkenazi Jews from different parts of Europe provide evidence for a prolonged period of low effective size in the history of theAshkenazi population.
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Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.
Competing LSDs and nonlysosomal storage diseases in terms of the number of mutations, allele-frequency distributions, and estimated coalescence dates of mutations provide compelling support for random genetic drift rather than selection as the primary determinant of disease mutations in the Ashkenazi population.
Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors.
The results suggest that most Jewish communities were founded by relatively few women, that the founding process was independent in different geographic areas, and that subsequent genetic input from surrounding populations was limited on the female side.
The Y chromosome pool of Jews as part of the genetic landscape of the Middle East.
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Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.
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Origins and divergence of the Roma (gypsies).
Principal-components analysis and analysis of molecular variance indicate that genetic structure in extant endogamous Romani populations has been shaped by genetic drift and differential admixture and correlates with the migrational history of the Roma in Europe.
Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries.
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High Levels of Y-Chromosome Differentiation among Native Siberian Populations and the Genetic Signature of a Boreal Hunter-Gatherer Way of Life
The Siberian pattern of reduced haplogroup diversity within populations combined with high levels of differentiation among populations may be a general feature characteristic of indigenous groups that have small effective population sizes and that have been isolated for long periods of time.
Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome.
Genetic variability appears to be much more structured by lineage than by population, and the deep structure of the genetic variation in old genealogical units (haplogroups) challenges a population-based perspective in the comprehension of human genome diversity.