Phylogenetic applications of whole y-chromosome sequences and the near eastern origin of ashkenazi levites

Siiri Rootsi; Doron M. Behar; Mari Järve; Alice A. Lin; Natalie M. Myres; Ben Passarelli; G. David Poznik; Shay Tzur; Hovhannes Sahakyan; Ajai Kumar Pathak; Saharon Rosset; Mait Metspalu; Viola Grugni; Ornella Semino; Ene Metspalu; Carlos D. Bustamante; Karl Skorecki; Richard Villems; Toomas Kivisild; Peter A. Underhill

doi:10.1038/ncomms3928

Phylogenetic applications of whole y-chromosome sequences and the near eastern origin of ashkenazi levites

Siiri Rootsi, Doron M. Behar, Mari Järve, Alice A. Lin, Natalie M. Myres, Ben Passarelli, G. David Poznik, Shay Tzur, Hovhannes Sahakyan, Ajai Kumar Pathak, Saharon Rosset, Mait Metspalu, Viola Grugni, Ornella Semino, Ene Metspalu, Carlos D. Bustamante, Karl Skorecki, Richard Villems, Toomas Kivisild, Peter A. Underhill

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Abstract

Previous Y-chromosome studies have demonstrated that Ashkenazi Levites, members of a paternally inherited Jewish priestly caste, display a distinctive founder event within R1a, the most prevalent Y-chromosome haplogroup in Eastern Europe. Here we report the analysis of 16 whole R1 sequences and show that a set of 19 unique nucleotide substitutions defines the Ashkenazi R1a lineage. While our survey of one of these, M582, in 2,834 R1a samples reveals its absence in 922 Eastern Europeans, we show it is present in all sampled R1a Ashkenazi Levites, as well as in 33.8% of other R1a Ashkenazi Jewish males and 5.9% of 303 R1a Near Eastern males, where it shows considerably higher diversity. Moreover, the M582 lineage also occurs at low frequencies in non-Ashkenazi Jewish populations. In contrast to the previously suggested Eastern European origin for Ashkenazi Levites, the current data are indicative of a geographic source of the Levite founder lineage in the Near East and its likely presence among pre-Diaspora Hebrews.

Original language	English
Article number	2928
Journal	Nature Communications
Volume	4
DOIs	https://doi.org/10.1038/ncomms3928
State	Published - 17 Dec 2013
Externally published	Yes

Bibliographical note

Funding Information:
We thank Julie Di Cristofaro for the Afghanistan results, Tuuli Reisberg for expert technical help and Jaime Raijman for preparation of Fig. 1. P.A.U. and A.A.L. thank Kenneth Chahine at Ancestry.com, and P.A.U. also thanks Prof Michael Snyder for support. We thank Levon Yepiskoposyan and Ardeshir Bahmanimehr for providing the Iranian samples. We thank Lars Mouritsen at Sorenson Genomics for technical assistance. We thank the Slava Smolokowski Fund at Rambam Medical Center for support. G.D.P. was supported by NSF graduate research fellowship DGE-1147470. A.K.P. was supported by European Social Fund’s Doctoral Studies and Internationalisation Programme DoRa. This work was supported by the European Union European Regional Development Fund through the Centre of Excellence in Genomics, by the Estonian Biocentre and the University of Tartu, by the European Commission grant 205419 ECOGENE to the EBC, by the Estonian Science Foundation grant nr8973, and by the Estonian Basic Research Grant SF 0270177s08.

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Rootsi, S., Behar, D. M., Järve, M., Lin, A. A., Myres, N. M., Passarelli, B., Poznik, G. D., Tzur, S., Sahakyan, H., Pathak, A. K., Rosset, S., Metspalu, M., Grugni, V., Semino, O., Metspalu, E., Bustamante, C. D., Skorecki, K., Villems, R., Kivisild, T., & Underhill, P. A. (2013). Phylogenetic applications of whole y-chromosome sequences and the near eastern origin of ashkenazi levites. Nature Communications, 4, Article 2928. https://doi.org/10.1038/ncomms3928

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title = "Phylogenetic applications of whole y-chromosome sequences and the near eastern origin of ashkenazi levites",

abstract = "Previous Y-chromosome studies have demonstrated that Ashkenazi Levites, members of a paternally inherited Jewish priestly caste, display a distinctive founder event within R1a, the most prevalent Y-chromosome haplogroup in Eastern Europe. Here we report the analysis of 16 whole R1 sequences and show that a set of 19 unique nucleotide substitutions defines the Ashkenazi R1a lineage. While our survey of one of these, M582, in 2,834 R1a samples reveals its absence in 922 Eastern Europeans, we show it is present in all sampled R1a Ashkenazi Levites, as well as in 33.8% of other R1a Ashkenazi Jewish males and 5.9% of 303 R1a Near Eastern males, where it shows considerably higher diversity. Moreover, the M582 lineage also occurs at low frequencies in non-Ashkenazi Jewish populations. In contrast to the previously suggested Eastern European origin for Ashkenazi Levites, the current data are indicative of a geographic source of the Levite founder lineage in the Near East and its likely presence among pre-Diaspora Hebrews.",

author = "Siiri Rootsi and Behar, {Doron M.} and Mari J{\"a}rve and Lin, {Alice A.} and Myres, {Natalie M.} and Ben Passarelli and Poznik, {G. David} and Shay Tzur and Hovhannes Sahakyan and Pathak, {Ajai Kumar} and Saharon Rosset and Mait Metspalu and Viola Grugni and Ornella Semino and Ene Metspalu and Bustamante, {Carlos D.} and Karl Skorecki and Richard Villems and Toomas Kivisild and Underhill, {Peter A.}",

note = "Funding Information: We thank Julie Di Cristofaro for the Afghanistan results, Tuuli Reisberg for expert technical help and Jaime Raijman for preparation of Fig. 1. P.A.U. and A.A.L. thank Kenneth Chahine at Ancestry.com, and P.A.U. also thanks Prof Michael Snyder for support. We thank Levon Yepiskoposyan and Ardeshir Bahmanimehr for providing the Iranian samples. We thank Lars Mouritsen at Sorenson Genomics for technical assistance. We thank the Slava Smolokowski Fund at Rambam Medical Center for support. G.D.P. was supported by NSF graduate research fellowship DGE-1147470. A.K.P. was supported by European Social Fund{\textquoteright}s Doctoral Studies and Internationalisation Programme DoRa. This work was supported by the European Union European Regional Development Fund through the Centre of Excellence in Genomics, by the Estonian Biocentre and the University of Tartu, by the European Commission grant 205419 ECOGENE to the EBC, by the Estonian Science Foundation grant nr8973, and by the Estonian Basic Research Grant SF 0270177s08.",

year = "2013",

month = dec,

day = "17",

doi = "10.1038/ncomms3928",

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Rootsi, S, Behar, DM, Järve, M, Lin, AA, Myres, NM, Passarelli, B, Poznik, GD, Tzur, S, Sahakyan, H, Pathak, AK, Rosset, S, Metspalu, M, Grugni, V, Semino, O, Metspalu, E, Bustamante, CD, Skorecki, K, Villems, R, Kivisild, T & Underhill, PA 2013, 'Phylogenetic applications of whole y-chromosome sequences and the near eastern origin of ashkenazi levites', Nature Communications, vol. 4, 2928. https://doi.org/10.1038/ncomms3928

TY - JOUR

T1 - Phylogenetic applications of whole y-chromosome sequences and the near eastern origin of ashkenazi levites

AU - Rootsi, Siiri

AU - Behar, Doron M.

AU - Järve, Mari

AU - Lin, Alice A.

AU - Myres, Natalie M.

AU - Passarelli, Ben

AU - Poznik, G. David

AU - Tzur, Shay

AU - Sahakyan, Hovhannes

AU - Pathak, Ajai Kumar

AU - Rosset, Saharon

AU - Metspalu, Mait

AU - Grugni, Viola

AU - Semino, Ornella

AU - Metspalu, Ene

AU - Bustamante, Carlos D.

AU - Skorecki, Karl

AU - Villems, Richard

AU - Kivisild, Toomas

AU - Underhill, Peter A.

N1 - Funding Information: We thank Julie Di Cristofaro for the Afghanistan results, Tuuli Reisberg for expert technical help and Jaime Raijman for preparation of Fig. 1. P.A.U. and A.A.L. thank Kenneth Chahine at Ancestry.com, and P.A.U. also thanks Prof Michael Snyder for support. We thank Levon Yepiskoposyan and Ardeshir Bahmanimehr for providing the Iranian samples. We thank Lars Mouritsen at Sorenson Genomics for technical assistance. We thank the Slava Smolokowski Fund at Rambam Medical Center for support. G.D.P. was supported by NSF graduate research fellowship DGE-1147470. A.K.P. was supported by European Social Fund’s Doctoral Studies and Internationalisation Programme DoRa. This work was supported by the European Union European Regional Development Fund through the Centre of Excellence in Genomics, by the Estonian Biocentre and the University of Tartu, by the European Commission grant 205419 ECOGENE to the EBC, by the Estonian Science Foundation grant nr8973, and by the Estonian Basic Research Grant SF 0270177s08.

PY - 2013/12/17

Y1 - 2013/12/17

N2 - Previous Y-chromosome studies have demonstrated that Ashkenazi Levites, members of a paternally inherited Jewish priestly caste, display a distinctive founder event within R1a, the most prevalent Y-chromosome haplogroup in Eastern Europe. Here we report the analysis of 16 whole R1 sequences and show that a set of 19 unique nucleotide substitutions defines the Ashkenazi R1a lineage. While our survey of one of these, M582, in 2,834 R1a samples reveals its absence in 922 Eastern Europeans, we show it is present in all sampled R1a Ashkenazi Levites, as well as in 33.8% of other R1a Ashkenazi Jewish males and 5.9% of 303 R1a Near Eastern males, where it shows considerably higher diversity. Moreover, the M582 lineage also occurs at low frequencies in non-Ashkenazi Jewish populations. In contrast to the previously suggested Eastern European origin for Ashkenazi Levites, the current data are indicative of a geographic source of the Levite founder lineage in the Near East and its likely presence among pre-Diaspora Hebrews.

AB - Previous Y-chromosome studies have demonstrated that Ashkenazi Levites, members of a paternally inherited Jewish priestly caste, display a distinctive founder event within R1a, the most prevalent Y-chromosome haplogroup in Eastern Europe. Here we report the analysis of 16 whole R1 sequences and show that a set of 19 unique nucleotide substitutions defines the Ashkenazi R1a lineage. While our survey of one of these, M582, in 2,834 R1a samples reveals its absence in 922 Eastern Europeans, we show it is present in all sampled R1a Ashkenazi Levites, as well as in 33.8% of other R1a Ashkenazi Jewish males and 5.9% of 303 R1a Near Eastern males, where it shows considerably higher diversity. Moreover, the M582 lineage also occurs at low frequencies in non-Ashkenazi Jewish populations. In contrast to the previously suggested Eastern European origin for Ashkenazi Levites, the current data are indicative of a geographic source of the Levite founder lineage in the Near East and its likely presence among pre-Diaspora Hebrews.

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Phylogenetic applications of whole y-chromosome sequences and the near eastern origin of ashkenazi levites

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