No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome

Several studies on small homogenous populations suggested that fragile-X syndrome originated from a limited number of founder chromosomes. The Israeli Jewish population could serve as an adequate model for tracing a founder effect due to the unique ethnic makeup and traditional lifestyle. Furthermore, a common haplotype for Jewish Tunisian fragile X patients was recently reported. To test for a similar occurrence in the Jewish Ashkenazi population, we performed haplotype analysis of 23 fragile-X patients and 28 normal chromosomes, all Jewish Ashkenazi, using microsatellite markers within and flanking the FMR-1 gene: FRAXAC1, FRAXAC2, and DXS548. The combined triple-marker analysis identified a wide range of diverse haplotypes in patients and controls, with no distinct haplotype prevalent in the patient group. Our data suggest that no common ancestral X chromosome is associated with the fragile-X syndrome in the Israeli Jewish Ashkenazi patient population studied. These findings are in contrast to other reports on founder effect associated with fragile-X syndrome in distinct European as well as Jewish Tunisian populations. On this basis, a more complex mechanism for the development of fragile-X syndrome in the Jewish Ashkenazi population should be considered. Received: 12 May 1997 / Accepted: 24 July 1997     

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

Background  

It was recently shown that the genetic distinction between self-identified Ashkenazi Jewish and non-Jewish individuals is a prominent component of genome-wide patterns of genetic variation in European Americans. No study however has yet assessed how accurately self-identified (Ashkenazi) Jewish ancestry can be inferred from genomic information, nor whether the degree of Jewish ancestry can be inferred among individuals with fewer than four Jewish grandparents.     

Time-Lapse Photography in Archaeological Data Recording

Abstract

Archaeologists have made little use of motion picture techniques for basic data records, relying on still photography, notebooks and drawings. Since excavation is a continuous process, and the basic scientific experiment of digging destroys site evidence, it is proposed that simple but non-static techniques of time-lapse photography be used to document the excavation as process and to aid in laboratory “reconstruction” of site evidence.     

Implications for health and disease in the genetic signature of the Ashkenazi Jewish population

Background

Relatively small, reproductively isolated populations with reduced genetic diversity may have advantages for genomewide association mapping in disease genetics. The Ashkenazi Jewish population represents a unique population for study based on its recent (< 1,000 year) history of a limited number of founders, population bottlenecks and tradition of marriage within the community. We genotyped more than 1,300 Ashkenazi Jewish healthy volunteers from the Hebrew University Genetic Resource with the Illumina HumanOmni1-Quad platform. Comparison of the genotyping data with that of neighboring European and Asian populations enabled the Ashkenazi Jewish-specific component of the variance to be characterized with respect to disease-relevant alleles and pathways.

Results

Using clustering, principal components, and pairwise genetic distance as converging approaches, we identified an Ashkenazi Jewish-specific genetic signature that differentiated these subjects from both European and Middle Eastern samples. Most notably, gene ontology analysis of the Ashkenazi Jewish genetic signature revealed an enrichment of genes functioning in transepithelial chloride transport, such as CFTR, and in equilibrioception, potentially shedding light on cystic fibrosis, Usher syndrome and other diseases over-represented in the Ashkenazi Jewish population. Results also impact risk profiles for autoimmune and metabolic disorders in this population. Finally, residual intra-Ashkenazi population structure was minimal, primarily determined by class 1 MHC alleles, and not related to host country of origin.

Conclusions

The Ashkenazi Jewish population is of potential utility in disease-mapping studies due to its relative homogeneity and distinct genomic signature. Results suggest that Ashkenazi-associated disease genes may be components of population-specific genomic differences in key functional pathways.     

Under the cover of the kippah: on Jewish settlers,performance, and belonging in Israel/Palestine

What can a kippah – the Jewish head cover – reveal about settlers’ politics of belonging in the Israeli-Palestinian space? During fieldwork among settlers and Palestinians in the West Bank, I selectively put on and took off the kippah, using it to control social identity and interactions, sometimes successfully, sometimes not. This article interrogates my use of the kippah as a reflexive means of highlighting its powerful meanings and effects within the Israeli-Palestinian space. In showing how the wearing and removal of the kippah bears upon the social construction of Jewish identity, this article offers new insights into the sociopolitical significance of sartorial practices in Israel/Palestine. These insights contribute more broadly to debates at the intersection of studies of settler colonialism, material culture, identity, and performativity.     

The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry

The Bene Israel Jewish community from West India is a unique population whose history before the 18^th century remains largely unknown. Bene Israel members consider themselves as descendants of Jews, yet the identity of Jewish ancestors and their arrival time to India are unknown, with speculations on arrival time varying between the 8th century BCE and the 6th century CE. Here, we characterize the genetic history of Bene Israel by collecting and genotyping 18 Bene Israel individuals. Combining with 486 individuals from 41 other Jewish, Indian and Pakistani populations, and additional individuals from worldwide populations, we conducted comprehensive genome-wide analyses based on F_ST, principal component analysis, ADMIXTURE, identity-by-descent sharing, admixture linkage disequilibrium decay, haplotype sharing and allele sharing autocorrelation decay, as well as contrasted patterns between the X chromosome and the autosomes. The genetics of Bene Israel individuals resemble local Indian populations, while at the same time constituting a clearly separated and unique population in India. They are unique among Indian and Pakistani populations we analyzed in sharing considerable genetic ancestry with other Jewish populations. Putting together the results from all analyses point to Bene Israel being an admixed population with both Jewish and Indian ancestry, with the genetic contribution of each of these ancestral populations being substantial. The admixture took place in the last millennium, about 19–33 generations ago. It involved Middle-Eastern Jews and was sex-biased, with more male Jewish and local female contribution. It was followed by a population bottleneck and high endogamy, which can lead to increased prevalence of recessive diseases in this population. This study provides an example of how genetic analysis advances our knowledge of human history in cases where other disciplines lack the relevant data to do so.     

Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry

For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15^th century to 5,000,000 people at the beginning of the 19^th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads.     

The Multiple Meanings of Jewish Genes

This article addresses contemporary social challenges created by new genetic research on Jews and by Jews, and its implications for the meanings of Jewish identity, on both the individual and the collective levels. The article begins with a brief overview of selective genetic studies of Jewish populations and the controversies they have generated. It continues with an examination of the emerging field of Jewish genetic demography, which employs genetic tests to identify lineages, claim kin, and support Jewish historical and political claims. Here the article explores how Jewish genetic demographers interpret genetic studies to reinforce oral tradition and Biblical prophecy about the origins of the Jews and their experience in the Diaspora. This research is then juxtaposed with debates that emerge from contemporary rabbinic deliberations over the appropriate uses of new reproductive technologies, debates that, contrary to the assertions of Jewish genetic demographers, suggest genes are believed to possess limited ability to confer or create Jewishness in the traditional rabbinic imagination. In the final section of this article, a debate is staged about contemporary biomedical practices that allow for the exchange and transfer of body parts and bodily substances, as a strategy for challenging genetic notions of Jewish identity.     

Patterns of mortality and causes of death among Rhode Island Jews, 1979–1981

Abstract

Using information provided by institutions handling Jewish deaths, this study identified 735 deaths among Jewish residents of Rhode Island during 1979–81. Official death records then provided data on the characteristics of the deceased and on cause of death, allowing comparisons of Jewish/non‐ Jewish patterns of mortality and cause of death, as well as analysis of differentials among the Jewish decedents, taking account of birthplace and occupation. The findings indicate that relatively fewer Jewish males die at ages below 65, and more at ages 85 and over than is true of total white males. Jewish females exhibit an age‐at‐death pattern more similar to that of all white women. These sex differences characterize cause of death as well. Differences are more pronounced between Jewish and non‐Jewish males than between the female groups. Most noteworthy, Jewish male deaths from diabetes are significantly higher and deaths from respiratory disease significantly lower than among total white men. Differentials in age of death between Jewish native‐born and foreign‐born are largely a function of their differential age composition, and socioeconomic status showed no clear relation to age at death or cause of death.     

A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE

Osteogenesis imperfecta (OI) underlies germline mutations in either Col1A1 or Col1A2. Here we describe, for the first time, the use of the denaturing gradient gel electrophoresis (DGGE) technique for mutation analysis of the Col1A1 gene. By employing this technique, we identified a point mutation in a young Jewish Israeli patient with mild OI. The missense mutation, a G to A alteration at position 888, result in a Gly to Arg substitution at codon 79. Furthermore, the patient’s mother, who was clinically labeled as OI based solely on the fact that she has blue sclera, was found not to carry this mutation in two different tissues. We suggest that blue sclera alone should not be used as a parameter for the diagnosis of OI, and that DGGE can be effectively used for mutation analysis of the Col1A1 gene. Received: 13 March 1997 / Accepted: 26 June 1997     

Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J

Background

Association of mitochondrial haplogroup J with longevity has been reported in several population subgroups. While studies from northern Italy and Finland, have described a higher frequency of haplogroup J among centenarians in comparison to non-centenarian, several other studies could not replicate these results and suggested various explanations for the discrepancy.

Methodology/Principal Findings

We have evaluated haplogroup frequencies among Ashkenazi Jewish centenarians using two different sets of matched controls. No difference was observed in the haplogroup J frequencies between the centenarians or either matched control group, despite adequate statistical power to detect such a difference. Furthermore, the lack of association was robust to population substructure in the Ashkenazi Jewish population. Given this discrepancy with the previous reported associations in the northern Italian and the Finnish populations, we conducted re-analysis of these previously published data, which supported one of several possible explanations: i) inadequate matching of cases and controls; ii) inadequate adjustment for multiple comparison testing; iii) cryptic population stratification.

Conclusions/Significance

There does not exist a universal association of mitochondrial haplogroup J with longevity across all population groups. Reported associations in specialized populations may reflect genetic or other interactions specific to those populations or else cryptic confounding influences, such as inadequate matching attributable to population substructure, which are of general relevance to all studies of the possible association of mitochondrial DNA haplogroups with common complex phenotypes.     

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities

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, ～28%), along with a strong ancestral component reflecting their origin in the Middle East [J1(xJ1a‐M267), ～12%; J2‐M172, ～25%; T‐M70, ～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. Am J Phys Anthropol 2010. © 2009 Wiley‐Liss, Inc.     

Hellenism and Jewish nationalism: ambivalence and its ancient roots

This essay sketches the ambivalent relationship of Hebraism and Hellenism from ancient times to the foundation of modern Israel. It analyses classical Greek influence on the Jewish Enlightenment (the Haskalah) and modern Jewish nationalism, particularly as reflected in Hebrew literature. Greece's successful struggle for independence from Ottoman Turkey in the 1820s showed the early Zionists that an ancient nation could be resurrected. Also, the ancient Greek ideal of physical education, revived in nineteenth-century Europe, radically transformed both Christian and Jewish attitudes to the body, giving rise to two related movements, "muscular Christianity" and "muscular Judaism". As the assimilationist attempts of the Haskalah broke down in the late nineteenth century under the burden of anti-Semitism and European racial nationalism, "muscular Judaism" was incorporated into Zionism. Jewish nationalists largely rejected rabbinic spirituality, non-belligerence and the disdain for athleticism which had dominated Jewish life after Rome destroyed the Jewish state in 70 CE.     

Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population

Until last year, type 2 diabetes (T2D) susceptibility loci have hardly been identified, despite great effort. Recently, however, several whole-genome association (WGA) studies jointly uncovered 10 robustly replicated loci. Here, we examine these loci in the Ashkenazi Jewish (AJ) population in a sample of 1,131 cases versus 1,147 controls. Genetic predisposition to T2D in the AJ population was found similar to that established in the previous studies. One SNP, rs7754840 in the CDKAL1 gene, presented a significantly stronger effect in the AJ population as compared to the general Caucasian population. This may possibly be due to the increased homogeneity of the AJ population. The use of the SNPs considered in this study, to identify individuals at high (or low) risk to develop T2D, was found of limited value. Our study, however, strongly supports the robustness of WGA studies for the identification of genes affecting complex traits in general and T2D in particular.     

The good Arab: conditional inclusion and settler colonial citizenship among Palestinian citizens of Israel in Jewish Tel Aviv

Dominant majorities often use idealized categories to validate the ‘goodness’ and deservingness of minority citizens. For Palestinian citizens of Israel, this category is the ‘good Arab’. Since its origins in early Jewish settlement of Palestine, it has become a powerful and controversial metaphor in Israeli public discourse. As an experienced condition of limited inclusion, the ‘good Arab’ exemplifies the Palestinian dilemma of accessing socioeconomic opportunities in Jewish Israeli spaces that stigmatize and fend off their ethnonational identity. Combining a historical genealogy of the ‘good Arab’ with ethnographic research among Palestinians in Tel Aviv, this article shows how a historically evolved logic of settler colonial control and indigenous erasure continues to define liberal frameworks of conditional citizenship and inclusion. Theorized through the emerging concept of conditional inclusion, these insights open up new avenues for analysis and comparison in anthropological debates surrounding indigenous struggles, settler colonialism, urban inclusion, and citizenship.     

Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a “bottleneck”, which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations.     

Changes in Jewish mortality and survival, 1963–1987

Abstract

From information on mortality of Jews obtained from individual death certificates and population data from surveys of the Jewish population undertaken in 1963 and 1987, age‐specific death rates and life expectancy of the Jewish population of Rhode Island are compared with those of the total white population for 1963 and 1987 to assess changing differentials. The Jewish mortality experience continues to differ from that of the larger population even while both groups have experienced noticeable improvements. For males, the age standardized rates have widened in favor of Jews as have the life expectancies at birth and the percentage surviving to old age. By contrast, for females, the standardized death rate has widened considerably in favor of whites, while life expectancy has improved almost identically for both groups and therefore remained about equal, as it was in 1963. Reasons for these patterns are explored through attention to differences between Jews and the general white population in death rates at particular stages of the life cycle. Jews tend to be more advantaged at all but the most advanced ages, age groups in which proportionally more of the Jewish population and Jewish deaths are concentrated.     

Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36

The development of refractive error is mediated by both environmental and genetic factors. We performed regression-based quantitative trait locus (QTL) linkage analysis on Ashkenazi Jewish families to identify regions in the genome responsible for ocular refraction. We measured refractive error on individuals in 49 multi-generational American families of Ashkenazi Jewish descent. The average family size was 11.1 individuals and was composed of 2.7 generations. Recruitment criteria specified that each family contain at least two myopic members. The mean spherical equivalent refractive error in the sample was −3.46D (SD=3.29) and 87% of individuals were myopic. Microsatellite genotyping with 387 markers was performed on 411 individuals. We performed multipoint regression-based linkage analysis for ocular refraction and a log transformation of the trait using the statistical package Merlin-Regress. Empirical genomewide significance levels were estimated through gene-dropping simulations by generating random genotypes at each of the 387 markers in 200 replicates of our pedigrees. Maximum LOD scores of 9.5 for ocular refraction and 8.7 for log-transformed refraction (LTR) were observed at 49.1 cM on chromosome 1p36 between markers D1S552 and D1S1622. The empirical genomewide significance levels were P=0.065 for ocular refraction and P<0.005 for LTR, providing strong evidence for linkage of refraction to this locus. The inter-marker region containing the peak spans 11 Mb and contains approximately 189 genes. Conclusion: We found genomewide significant evidence for linkage of refractive error to a novel QTL on chromosome 1p36 in an Ashkenazi Jewish population.     

Making sense of Jewish ethnicity: Identification patterns of New Zealanders of mixed parentage

Modern social life is sometimes characterized as ‘post‐traditional’, an environment where personal identity is continually reconstructed. Concepts of ethnic identity on the other hand usually evoke some notion of tradition, continuity with the past, and intersubjectivity. This article discusses the personal accounts of Jewishness given by a sample of New Zealanders with ‘mixed’ (Jewish and gentile) backgrounds. It explores and analyses their use of themes that come from both modernity and Jewish tradition and defines the different types of identification implicit in their accounts. Particular attention is paid to how these kinds of identification are transmitted, because the literature (on both Jewishness and ethnicity in general) contains debates about the persistence of different expressions of identity. I conclude that a substantial dispersal of Jewish identity has occurred in New Zealand which apparently contradictory theoretical positions are useful in explaining. This suggests that a more holistic perspective is required to account adequately for the diversity of ethnic identity in contemporary society.     

Visualizing Marriage in Hong Kong

ABSTRACT

In this article, I propose using bridal photography and wedding video-recording to gain a better understanding of the meanings of romance and the ideal life among young generations and to consider how relevant images of getting married shed light on the changing social life in Hong Kong. Bridal photography and wedding videorecording not only play the role of documentation but also reflect the social change and values among new married couples in the society. By examining packaged bridal photography and the process of wedding video-shooting, I propose to state how visualization brings subtle influences into the new dynamism of marriage as a ritual and reflects the changing social contexts in today's Hong Kong everyday life.