Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes

Hammer, Michael F.; Redd, Alan J.; Wood, Elizabeth T; Bonner, Matthew; Jarjanazi, Hamdi; Karafet, Tatiana M.; Santachiara-Benerecetti, Silvana; Oppenheim, Ariella; Jobling, Mark A.; Jenkins, Trefor; Ostrer, Harry; Bonné‐Tamir, Batsheva

doi:10.1073/pnas.100115997

Cited by 238 publications

(219 citation statements)

References 29 publications

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“…Finally, the sub-Saharan-specific haplogroups 7.1, 7.2, 21, and 8 [4,18] were very uncommon and found only in six Berbers, one Arab, one Bedouin, three Palestinians, and seven Sardinians, which indicates that male-mediated gene flow across the Sahara has been very low both in historic and prehistoric times. [36] and Hammer et al [37], and the HG9 data from Rosser et al [7] and Quintana-Murci et al [38]. Panel B includes additional data from Malaspina et al [13].…”

Section: Geographical Distribution Of Haplogroupsmentioning

confidence: 99%

Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

et al. 2001

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Section: Geographical Distribution Of Haplogroupsmentioning

confidence: 99%

Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

et al. 2001

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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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“…However, when we added the haplotype information from the five microsatellite loci, we were able to distinguish the two samples (p ϭ 0.047), illustrating the greater resolving power available with the compound haplotypes. We compared our data with previously published data on CYP2D6 allele frequencies in Western Europeans (n ϭ 3292) [38] and Saudi Arabians (n ϭ 202) [9]. Our British sample did not differ significantly from the Western European sample (p ϭ 0.487 using exact test), despite the very high Western European sample size.…”

Section: Resultsmentioning

confidence: 85%

“…This difference is reflected in a lower F ST value between Ashkenazi and British (F ST ϭ Ϫ0.005) and between Ashkenazi and Western Europeans (F ST ϭ 0.002) than between Ashkenazi and Saudi Arabians (F ST ϭ 0.042). The greater similarity of Ashkenazi Jews to Western Europeans (including the British) may be due to inward gene flow into the Ashkenazi Jewish community from surrounding populations [38].…”

Section: Resultsmentioning

confidence: 99%

High-throughput analysis of informative CYP2D6 compound haplotypes

et al. 2003

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We describe a high-throughput protocol for detecting key polymorphisms in the drug-metabolizing enzyme gene CYP2D6 and a number of linked microsatellites that is both fast and relatively inexpensive to perform. This approach employs GeneScan technology to enable a researcher to determine rapidly the status of seven simple nucleotide polymorphisms in CYP2D6 and also to assay repeat number variation at five closely linked dinucleotide microsatellite loci. The method requires only three PCRs and two GeneScan runs per sample. We anticipate that this will be of value to researchers in three different ways: (1) rapid discrimination of common CYP2D6 alleles, (2) high-resolution haplotyping for association studies involving chromosome 22q13.1 using microsatellite variation, and (3) generation of compound haplotypes for investigating the evolution of CYP2D6 variation. We also report compound haplotype frequencies for an Ashkenazi Jewish and a British sample. © 2003 Elsevier Science (USA). All rights reserved.Keywords: CYP2D6; Pharmacogenetics; Genotyping; Haplotype; Microsatellites; SNPs; Jews; British; Population; Variation It is now clear that much of the observed variation in drug efficacy and safety has a hereditary basis, arising from polymorphisms in genes coding for drug-metabolizing enzymes (DMEs). The frequency of DME alleles can vary greatly between different human populations, and this has implications for both medical and evolutionary studies. Consequently, there has been growing academic and commercial interest in the extent, nature, and causes of DME variation. However, it is currently unknown to what extent interpopulation variability is due to selection, drift, or other processes. Studies seeking to elucidate this have been held back by the absence of efficient low-cost high-throughput procedures for characterizing variability at the molecular level in and around DME loci. Ultimately, the identification of the molecular basis of pharmacogenetically relevant variation combined with the technology to screen individuals for the presence of specific alleles allows for the prediction of drug response and individualized treatment.Polymorphism in debrisoquine/sparteine oxidation is arguably the most highly studied pharmacogenetic trait. The DNA sequence encoding the enzyme has been localized to the 4.3-kb, nine-exon cytochrome P450 2D6 (CYP2D6) gene found at chromosome 22q13.1. To date more than 48 mutations and 53 alleles of CYP2D6 have been characterized in European populations [1]. The poor metabolizer (PM) phenotype follows an autosomal recessive pattern of inheritance [2]. An allele duplication consisting of multiple functional copies of CYP2D6 confers the ultrarapid metabolizer (URM) phenotype [3]. Individuals who demonstrate normal levels of CYP2D6 activity are referred to as extensive metabolizers. Intermediate metabolizers (IMs) typically produce lower than normal levels of functional enzyme.Medical interest in CYP2D6 polymorphism arises because the CYP2D6 enzyme has been found to process more t...

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Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes

Cited by 238 publications

References 29 publications

Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

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

High-throughput analysis of informative CYP2D6 compound haplotypes

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