Origins and diversity of Jewish Y-chromosome haplotypes. M.F. Hammer1, E.T. Wood1, A.J. Redd1, M.R. Bonner1, T. Karafet1, A.S. Santachiara-Benerecetti2, A. Oppenheim3, M. Jobling6, H. Ostrer4, B. Bonne-Tamir5. 1) Laboratory of Molecular Systematics and Evolution, Univ Arizona, Tucson, AZ; 2) Dept. Genetics, Universita degli Studi di Pavia, Pavia, Italy; 3) Hadassah Medical School, Hebrew University of Jerusalem, Jerusalem, Israel; 4) Dept. Pediatrics, New York University Medical Center, New York, NY; 5) Dept. Human Genetics, Sacler School of Medicine, Ramat Aviv, Israel; 6) Dept. Genetics, Univ. Leicester, Leicester, England.
Haplotypes constructed from Y chromosome markers were used to examine the history and structure of populations from the Jewish Diaspora. A set of 17 biallelic polymorphisms were genotyped in 1378 males from 28 populations, including 8 Jewish and 11 non-Jewish populations from similar geographic locations. Jewish populations were characterized by a diverse set of 12 haplotypes that appear to have originated in Africa, Asia, and the Mediterranean region. Eight of these haplotypes were relatively common ranging in frequency from 5% to 35%. Principal components analysis placed six of the eight Jewish populations in a relatively tight cluster adjacent to Arab populations from Lebanon, Israel, and Saudi Arabia. The Jewish and Arab groups were more distantly surrounded by non-Jewish European and North African populations. Overall the results support the hypothesis that Jewish populations from North Africa, Europe, and West Asia are descended from common Middle-Eastern ancestors. A recent founder effect has been proposed to explain the high incidence of rare genetic diseases in Ashkenazi Jewish populations. In order to test this hypothesis, we estimated paternal genetic diversity in Ashkenazi and Finnish populations, as well as populations not thought to have experienced recent bottlenecks. There was no evidence for a reduction of Ashkenazi genetic diversity as assessed by both biallelic and microsatellite markers on the Y chromosome. We suggest that an alternative model involving a subdivided Ashkenazi population and multiple founder effects, may better explain both the observed frequencies of genetic diseases and the high levels of Y chromosome haplotype diversity.