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Extended Y Chromosome Haplotypes Resolve Multiple and Unique Lineages of the Jewish Priesthood


Extended Y Chromosome Haplotypes Resolve Multiple and Unique Lineages of the Jewish Priesthood

Michael F Hammer et al. Hum Genet.


It has been known for over a decade that a majority of men who self report as members of the Jewish priesthood (Cohanim) carry a characteristic Y chromosome haplotype termed the Cohen Modal Haplotype (CMH). The CMH has since been used to trace putative Jewish ancestral origins of various populations. However, the limited number of binary and STR Y chromosome markers used previously did not provide the phylogenetic resolution needed to infer the number of independent paternal lineages that are encompassed within the Cohanim or their coalescence times. Accordingly, we have genotyped 75 binary markers and 12 Y-STRs in a sample of 215 Cohanim from diverse Jewish communities, 1,575 Jewish men from across the range of the Jewish Diaspora, and 2,099 non-Jewish men from the Near East, Europe, Central Asia, and India. While Cohanim from diverse backgrounds carry a total of 21 Y chromosome haplogroups, 5 haplogroups account for 79.5% of Cohanim Y chromosomes. The most frequent Cohanim lineage (46.1%) is marked by the recently reported P58 T->C mutation, which is prevalent in the Near East. Based on genotypes at 12 Y-STRs, we identify an extended CMH on the J-P58* background that predominates in both Ashkenazi and non-Ashkenazi Cohanim and is remarkably absent in non-Jews. The estimated divergence time of this lineage based on 17 STRs is 3,190 +/- 1,090 years. Notably, the second most frequent Cohanim lineage (J-M410*, 14.4%) contains an extended modal haplotype that is also limited to Ashkenazi and non-Ashkenazi Cohanim and is estimated to be 4.2 +/- 1.3 ky old. These results support the hypothesis of a common origin of the CMH in the Near East well before the dispersion of the Jewish people into separate communities, and indicate that the majority of contemporary Jewish priests descend from a limited number of paternal lineages.


Fig. 1
Fig. 1
The phylogeny of NRY haplogroups inferred from the panel of 75 binary markers used herein. The polymorphic sites are shown on the branches. The number of chromosomes in each haplogroup (counts) for 215 Cohanim and 737 Israelites is shown at the right of the tree, next to haplogroup frequencies (%) for the entire sample of 952 Jewish chromosomes (All)
Fig. 2
Fig. 2
The distribution of haplogroup frequencies for all haplogroups present in Ashkenazi and non-Ashkenazi Israelites (top) and Cohanim (bottom) at a frequency >5%. The following haplogroups are not shown: C-M216, E-M96, E-P2, E-M81, F-P14, I-M170, I-P37.2, I-M223, I-M253, J-M304, L-M20, N-M231, Q-M242, R-M173
Fig. 3
Fig. 3
Network of J-P58* haplotypes observed within Ashkenazi (black) and non-Ashkenazi Cohanim (white). The following STRs comprise the network: DYS19, DYS385a, DYS385b, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS426, and DYS439. Circle areas are proportional to haplotype frequency with the smallest circles representing singletons. The branch lengths are proportional to the number of STRs separating the nodes
Fig. 4
Fig. 4
Geographic distribution of J-P58* chromosomes for all populations listed in Tables S1 and S2. The frequency of J-P58* chromosomes for each population is indicated in black

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