1. ¹Department of Molecular and Human Genetics, College of Medicine, Florida International University, Miami, FL, USA
2. ²Department of Genetics, Stanford University, Stanford, CA, USA
3. ³Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia

Correspondence: Dr RJ Herrera, Department of Biological Sciences, Florida International University, University Park, OE 304, Miami, FL 33199, USA. Tel: +305 348 1258; Fax: +305 348 1259; E-mail: herrerar@fiu.edu

⁴These authors contributed equally to this work.

Received 31 July 2008; Revised 9 January 2009; Accepted 14 January 2009; Published online 4 March 2009.

Abstract

Populations of northeastern Europe and the Uralic mountain range are found in close geographic proximity, but they have been subject to different demographic histories. The current study attempts to better understand the genetic paternal relationships of ethnic groups residing in these regions. We have performed high-resolution haplotyping of 236 Y-chromosomes from populations in northwestern Russia and the Uralic mountains, and compared them to relevant previously published data. Haplotype variation and age estimation analyses using 15 Y-STR loci were conducted for samples within the N1b, N1c1 and R1a1 single-nucleotide polymorphism backgrounds. Our results suggest that although most genetic relationships throughout Eurasia are dependent on geographic proximity, members of the Uralic and Slavic linguistic families and subfamilies, yield significant correlations at both levels of comparison making it difficult to denote either linguistics or geographic proximity as the basis for their genetic substrata. Expansion times for haplogroup R1a1 date approximately to 18 000 YBP, and age estimates along with Network topology of populations found at opposite poles of its range (Eastern Europe and South Asia) indicate that two separate haplotypic foci exist within this haplogroup. Data based on haplogroup N1b challenge earlier findings and suggest that the mutation may have occurred in the Uralic range rather than in Siberia and much earlier than has been proposed (12.94.1 instead of 5.22.7 kya). In addition, age and variance estimates for haplogroup N1c1 suggest that populations from the western Urals may have been genetically influenced by a dispersal from northeastern Europe (eg, eastern Slavs) rather than the converse.