New article on the genetic origins of Ashkenazi female lines

ARTICLE Received 11 Jul 2013 | Accepted 4 Sep 2013 | Published 8 Oct 2013

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

Marta D. Costa [1,2,*], Joana B. Pereira[1,2,*], Maria Pala [3], Vero´nica Fernandes [1,2], Anna Olivieri [4], Alessandro Achilli [5], Ugo A. Perego [4,6], Sergei Rychkov [7], Oksana Naumova[7], Jirˇi Hatina[8], Scott R. Woodward [6,9], Ken Khong Eng [1,10],
Vincent Macaulay [11], Martin Carr [3], Pedro Soares [2], Luı´sa Pereira [2,12] & Martin B. Richards [1,3]

The origins of Ashkenazi Jews remain highly controversial. Like Judaism, mitochondrial DNA
is passed along the maternal line. Its variation in the Ashkenazim is highly
distinctive, with four major and numerous minor founders. However, due to their rarity in the
general population, these founders have been difficult to trace to a source. Here we show that
all four major founders, ~40% of Ashkenazi mtDNA variation, have ancestry in prehistoric
Europe, rather than the Near East or Caucasus. Furthermore, most of the remaining minor
founders share a similar deep European ancestry. Thus the great majority of Ashkenazi
maternal lineages were not brought from the Levant, as commonly supposed, nor recruited in
the Caucasus, as sometimes suggested, but assimilated within Europe. These results point to
a significant role for the conversion of women in the formation of Ashkenazi communities,
and provide the foundation for a detailed reconstruction of Ashkenazi genealogical history.

1. Institute of Integrative and Comparative Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK.
   
2. IPATIMUP (Instituto de Patologia e
   Imunologia Molecular da Universidade do Porto), Porto 4200-465, Portugal.
   
3. School of Applied Sciences, University of Huddersfield, Queensgate,
   Huddersfield HD1 3DH, UK.
   
4. Dipartimento di Biologia e Biotecnologie, Universita` di Pavia, Pavia 27100, Italy.
   
5. Dipartimento di Chimica, Biologia e
   Biotecnologie, Universita` di Perugia, Perugia 06123, Italy.
   
6. Sorenson Molecular Genealogy Foundation, Salt Lake City, Utah 84115, USA.
   
7. Vavilov Institute of
   General Genetics, Moscow 119991, Russia.
   
8. Charles University, Medical Faculty in Pilsen, Institute of Biology, CZ-301 66 Pilsen, Czech Republic.
   
9. Ancestry,Provo, Utah 84604, USA.
   
10. Centre for Global Archaeological Research, Universiti Sains Malaysia, 11800 USM Penang, Malaysia.
    
11. School of Mathematics
    and Statistics, University of Glasgow, Glasgow G12 8QQ, UK.
    
12. Faculdade de Medicina da Universidade do Porto, Porto 4200-319, Portugal.
    

• These authors contributed equally to this work. Correspondence and requests for materials should be addressed to M.B.R. (email: m.b.richards@hud.ac.uk).