Mitochondrial and Y chromosome haplotype motifs as diagnostic markers of Jewish ancestry: a reconsideration

Abstract

Several authors have proposed haplotype motifs based on site variants at the mitochondrial genome (mtDNA) and the non-recombining portion of the Y chromosome (NRY) to trace the genealogies of Jewish people. Here, we analyzed their main approaches and test the feasibility of adopting motifs as ancestry markers through construction of a large database of mtDNA and NRY haplotypes from public genetic genealogical repositories. We verified the reliability of Jewish ancestry prediction based on the Cohen and Levite Modal Haplotypes in their “classical” 6 STR marker format or in the “extended” 12 STR format, as well as four founder mtDNA lineages (HVS-I segments) accounting for about 40% of the current population of Ashkenazi Jews. For this purpose we compared haplotype composition in individuals of self-reported Jewish ancestry with the rest of European, African or Middle Eastern samples, to test for non-random association of ethno-geographic groups and haplotypes. Overall, NRY and mtDNA based motifs, previously reported to differentiate between groups, were found to be more represented in Jewish compared to non-Jewish groups. However, this seems to stem from common ancestors of Jewish lineages being rather recent respect to ancestors of non-Jewish lineages with the same “haplotype signatures.” Moreover, the polyphyly of haplotypes which contain the proposed motifs and the misuse of constant mutation rates heavily affected previous attempts to correctly dating the origin of common ancestries. Accordingly, our results stress the limitations of using the above haplotype motifs as reliable Jewish ancestry predictors and show its inadequacy for forensic or genealogical purposes.

The Eastern side of the Westernmost Europeans: Insights from subclades within Y‐chromosome haplogroup J‐M304

“…The 15 different Y‐STR haplotypes anchored in the J1a2b‐P58 chromosomes, produced a star‐like structure with a center occupied by a haplotype shared by three samples (H2/H15/H23 in Supporting Information, Table S1) (Figure A). This haplotypic background is identical to the originally described Cohen Modal Haplotype (CMH) (DYS19‐14/DYS388‐16/DYS390‐23/DYS391‐10/DYS392‐11/DYS393‐12) (Thomas et al, ; Tofanelli et al, ) (not considering DYS388 because it was not analyzed in this study), which has since been widely used to trace likely Jewish ancestry in populations (Tofanelli et al, ), though it is also present in Arab and other Near Eastern populations. Haplotypes presenting the suit of five STR alleles compatible with the CMH were found in 11 out of 36 (30.5%) J1‐M267 Portuguese males, a result that could testify to the legacy of Sephardic Jewish people in the current‐day Portuguese population (Nogueiro, Manco, Gomes, Amorim, & Gusmão, ).…”

Ancestry Testing and the Practice of Genetic Counseling

“…To understand these aspects of ancestry testing, it is important to understand the major scientific fields involved in the foundation of the testing: molecular anthropology, population genetics, and genetic epidemiology. Scientific publications in all of these fields have enabled the growth of understanding about the value of DNA studies in understanding human history (Brown and Pasaniuc 2014; Kumagai and Uyenoyama 2015;Larmuseau et al 2013;Ma and Amos 2012;Ralph and Coop 2013;Shriner et al 2014;Tofanelli et al 2014;Wang and Li 2013;van Oven et al 2014;Zhang et al 2013;Xu et al 2015) Molecular anthropology is a field of evolutionary biology investigating the links between modern and ancient humans, and between contemporary groups (Destro-Bisol et al 2010). In this area of anthropology, DNA and protein sequences are analyzed at the molecular level, and inferences can be made about the relationship and history of evolution between groups.…”

Portuguese crypto-Jews: the genetic heritage of a complex history

“…A very recent study ( Tofanelli et al, 2014 ) of the haplotype motifs of Levites and Cohanim Jewish Priestly lineages has, however, found that these supposed markers of Jewish ancestry can lead to ambiguous results since they are not identical by descent. These motifs were observed in independent lineages from different ethnic, cultural and geographic groups, probably due to multiple founder events, recombination and admixture of the Jewish genetic pool in the course of their history ( Tofanelli et al, 2014 ).…”