Haplotype VIII of the Y chromosome is the ancestral haplotype in Jews
Lucotte, Gerard
Jews trace back culturally to populations occupying Israel 4000 years ago. Modern Jews constitute one ethnic group split into at least three subdivisions: the Ashkenazim in northeastern Europe, the Sephardim in North Africa, and Oriental Jews. Genetic studies have proven to be a powerful aid in reconstructing the history of Jews (Mourant et al. 1978; Karlin et al. 1979, 1982; Livshits et al. 1991), and among the new genetic markers made available by recombinant DNA technology the uniparentally inherited mitochondrial DNA (mtDNA) and Y-chromosome-specific polymorphisms provide informative, exclusive, and complementary information. Bonne-Tamir et al. (1986), Tikopchinski et al. (1991), and Ritte et al. (1993b) analyzed the mtDNA in various Jewish communities to trace the genetic roots of Jews and to evaluate the extent of resemblance and difference between the populations.
The informative p49f and p49a Y-chromosome-specific DNA probes (Lucotte and Ngo 1985), mapped to the Yq11.2 region (Quack et al. 1988), reveal 16 male-specific TaqI fragments. At least five of these fragments (A, C, D, F, and I) are highly polymorphic and determine 16 main haplotypes (I to XVI) in European populations (Ngo et al. 1986). These Y-chromosome-specific polymorphic DNA TaqI fragments are inherited paternally (transferred from fathers to sons), and because these markers do not undergo recombination, differences in variable TaqI fragments among individuals in populations are due exclusively to mutations, which are believed to be neutral on the basis of the available nucleotide sequence (Lucotte et al. 1991).
Initial studies (Lucotte and David 1992; Santachiara-Benerecetti et al. 1992) showed that only seven of the European Y-chromosome-haplotypes are found in Jews; three of these (VII, VIII, and XI) are the most widespread (a haplotype distribution different from distributions observed in European non-Jewish populations). Further studies comparing various populations of Ashkenazic and Sephardic Jews (Lucotte et al. 1993; Santachiara-Benerecetti et al. 1993; Ritte et al. 1993a) established that all 16 haplotypes found in Europeans are found in Jewish populations, but 2 of them (haplotype VII, A2,C0,D1,F1,I0; and haplotype VIII, A2,C0,D1,F1,I1) are the most widespread (representing, for example, in our sample about 50% of the total number of haplotypes). This shows that the Jewish populations have maintained a high degree of genetic isolation.
Haplotype distributions in Ashkenazic and Sephardic Jews are similar, but haplotype XI (the Oriental haplotype) (Persichetti et al. 1992; Jobling 1994) and haplotype XV (the European haplotype) (Ngo et al. 1986) are more frequent in the Ashkenazim, and haplotypes IV and V (the African haplotypes) (Torroni et al. 1990; Spurdle and Jenkins 1992; Lucotte et al. 1994) are more frequent in the Sephardim. This indicates that in the various Jewish communities haplotypes vary in frequency depending on population origin.
The frequencies of the haplotypes in various Jewish communities are given in Table 1.(Table 1 omitted) All the Jews studied (N = 621) were unrelated adults living in Paris, and their classification was based on the birthplace of both their parents and (for most of them) their grandparents. They were divided into the following communities: (1) Ashkenazic (Jews from Central and Eastern Europe); (2) North African, 49 of them coming from Djerba (a Mediterranean island located northeast of Tunisia and one of the oldest Jewish communities in the world) (Mourant et al. 1978); and (3) Near Eastern (Jews from Iraq, Iran, and Syria). On the whole, all 16 European haplotypes were found in our sample, but only haplotypes VII and VIII were widespread in all communities, representing more than half of the sample. Haplotype VIII alone represents 32.2% of the total number of haplotypes.
We have suggested previously (Lucotte et al. 1994) that haplotype VIII is the ancestral haplotype in Jews because in a previous unique optimal solution
which assumed that TaqI sites are not at equilibrium (Hazout and Lucotte 1986, 1990; Lucotte et al. 1989)1 concerning relationships between haplotypes, the other common haplotype (VII) derives from haplotype VIII by one mutational step (II — IO).
The results reported here show that the major haplotype (85.1%) in Oriental Jews is also haplotype VIII, but the sample of Near Eastern Jews studied here, representing the more ancient Jewish population, is limited in size. Confirmation that haplotype VIII is ancestral in Jewish populations is supported in the present study by the fact that it is at high frequencies in many Jewish populations and at very high frequencies in older Jewish communities (77.5% in Djerba). It remains to be determined whether the elevated frequencies of haplotype VIII in the ancient community of Djerba really represent ancestral relationships, are a consequence of inbreeding on this island (consanguineous marriages are frequently found in North African populations), or are a special case of a founder effect.
In conclusion, the ancestry of haplotype VIII, which has the highest frequency in Askenazic and Sephardic populations, postulated previously on the basis of relationships between the different haplotypes, is confirmed here. Haplotype VIII has now been found to be overwhelmingly the most common haplotype in the ancestral Near Eastern population and the ancient Djerba population. What is the meaning of haplotype VIII being the ancestral haplotype in Jews? We believe that it must mean that haplotype VIII was first found in Jewish populations and that other haplotypes were introduced later by migration and mutation. Haplotype VIII is ancestral on the assumption that this haplotype has had the longest time to reach the highest frequency. This effect of time was raised again in the ancient Jewish population of Djerba and in the other older populations from the Near East, where founder effects and inbreeding accentuated the phenomenon.
1 International Institute of Anthropology, 1 place d’Iena, 75016 Paris, France.
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