Jewish population genetic data in 20 polymorphic loci

Picornell, A.; Tomàs, Carmen; Jiménez, G; Castro, José A.; Ramon, Meike

doi:10.1016/s0379-0738(01)00626-0

Cited by 14 publications

(5 citation statements)

References 6 publications

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“…In contrast to what was found in Ashkenazi Jews (Picornell et al, 2002;Behar et al, 2004), no significant reduction in STR diversity was detected in the presently studied Sephardic community, which argues against the presence of strong drift effects acting in their pool of Y-STR lineages. This is also reinforced by the results obtained when the Y-STR information was used to construct networks for the most frequent haplogroups (see Fig.…”

Section: Diversity Of Jewish Male Lineages From Ne Portugalcontrasting

confidence: 99%

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities

Nogueiro

Manco

Gomes

et al. 2009

American J Phys Anthropol

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The establishment of Jewish communities in the territory of contemporary Portugal is archaeologically documented since the 3rd century CE, but their settlement in Trás-os-Montes (NE Portugal) has not been proved before the 12th century. The Decree of Expulsion followed by the establishment of the Inquisition, both around the beginning of the 16th century, accounted for a significant exodus, as well as the establishment of crypto-Jewish communities. Previous Y chromosome studies have shown that different Jewish communities share a common origin in the Near East, although they can be quite heterogeneous as a consequence of genetic drift and different levels of admixture with their respective host populations. To characterize the genetic composition of the Portuguese Jewish communities from Trás-os-Montes, we have examined 57 unrelated Jewish males, with a high-resolution Y-chromosome typing strategy, comprising 16 STRs and 23 SNPs. A high lineage diversity was found, at both haplotype and haplogroup levels (98.74 and 82.83%, respectively), demonstrating the absence of either strong drift or founder effects. A deeper and more detailed investigation is required to clarify how these communities avoided the expected inbreeding caused by over four centuries of religious repression. Concerning haplogroup lineages, we detected some admixture with the Western European non-Jewish populations (R1b1b2-M269, approximately 28%), along with a strong ancestral component reflecting their origin in the Middle East [J1(xJ1a-M267), approximately 12%; J2-M172, approximately 25%; T-M70, approximately 16%] and in consequence Trás-os-Montes Jews were found to be more closely related with other Jewish groups, rather than with the Portuguese non-Jewish population.

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Section: Diversity Of Jewish Male Lineages From Ne Portugalcontrasting

confidence: 99%

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities

Nogueiro

Manco

Gomes

et al. 2009

American J Phys Anthropol

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“…Autosomal microsatellite data obtained from the same population samples showed no significant differences between all four populations studied or between them and other circum-Mediterranean populations [47]. Y-chromosome data based on the so-called minimal haplotype [49] showed, as can be seen in Fig.…”

Section: Resultsmentioning

confidence: 56%

Mitochondrial DNA sequence variation in Jewish populations

et al. 2006

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Sequence analysis of HVRI and HVRII mitochondrial DNA was carried out on 107 Jewish samples from Ashkenazi, Oriental, North African, and Sephardic origins. Control region sequences were assigned to a haplogroup by means of the analysis of the RFLP motif -7025 AluI or by using sequence motifs. A total of 88 different haplotypes were observed with a lower incidence of unique haplotypes (68.2%) than in other populations. Four individuals with one position of sequence heteroplasmy at nucleotides 16093, 16134, 16169, and 235, respectively, were detected. The mean pairwise difference in the Jewish population was 9.7 nucleotides. The gene diversity was 0.996, and the random match probability was 1.3%. When the data were compared with the autosomal and Y-chromosome markers previously studied in these populations, sex-specific differences could be observed in the Jewish populations. This fact must be taken into account for choosing suitable databases to correctly weigh the value of the evidence of a mtDNA and/or Y profile match.

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“…From one to 100 POALIN loci have been used in population studies (Hammer, 1994;Batzer et al, 1994Batzer et al, , 1996Sherry et al, 1994;Hammer et al, 1997;Rodriguez-Delfin et al, 1997;Bamshad et al, 2001;Comas et al, 2001;de Pancorbo et al, 2001;Nasidze et al, 2001;Watkins et al, 2001Watkins et al, , 2003Picornell et al, 2002;Calderon et al, 2003). Because each chromosome has its own unique evolutionary history, a relatively larger number of different POALINs may be needed to account for evolutionary and population factors such as selection, admixture, bottlenecks, linguistic barriers, disease, gene flow and stochastic variation.…”

Section: Introduction To Polymorphic Alu Insertions (Poalins)mentioning

confidence: 99%

Polymorphic Alu insertions within the Major Histocompatibility Complex class I genomic region: a brief review

Kulski¹,

Dunn²

2005

Cytogenet Genome Res

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Most polymorphic Alu insertions (POALINs) belong to a subgroup of the Alu multicopy retrotransposon family of short interspersed nucleotide elements (SINEs) that are categorized as AluYb8 and AluYa5. The number of AluYb8/AluYa5 members (∼4,492 copies) is significantly less than the ∼one million fixed Alu copies per human genome. We have studied the presence of POALINs within the Major Histocompatibility Complex (MHC) class I region on the short arm of chromosome 6 (6p21.3) because this region has a high gene density, many genes with immune system functions, large sequence variations and diversity, duplications and redundancy, and a strong association with more than 100 different diseases. Since little is known about POALINs within the MHC genomic region, we undertook to identify some of the members of the AluYb8/AluYa5 subfamily and to study their frequency of distribution and genetic characteristics in different populations. As a result of our comparative genomic analyses, we identified the insertion sites for five POALINs distributed within the MHC class I region. This brief review outlines the locations of the insertions and sequence features of the five MHC POALINs, their single site and haplotype frequencies in different geographic populations, and their association with different HLA class I genes and disease. We show that the MHC POALINs have a potential value as lineage and linkage markers for the study of human population genetics, disease associations, genomic diversity and evolution.

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Jewish population genetic data in 20 polymorphic loci

Cited by 14 publications

References 6 publications

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities

Mitochondrial DNA sequence variation in Jewish populations

Polymorphic Alu insertions within the Major Histocompatibility Complex class I genomic region: a brief review

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