title: Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a.
abstract: To investigate the structure of Y chromosome haplogroups R-M207 and Q-M242 in human populations of North Asia, we have performed high-resolution genotyping using both single nucleotide polymorphisms and short tandem repeat (STR)-based approaches of 121 M207- and M242-derived samples from 885 males of 16 ethnic groups of Siberia and East Asia. As a result, the following Y chromosome haplogroups were revealed: R1b1b1-M73 (2.0%), R1b1b2-M269 (0.7%), R2-M124 (1.1%), Q1a*-MEH2 (0.5%), Q1a2-M25 (0.1%), Q1a3*-M346 (9.2%) and Q1a3a-M3 (0.2%). Despite the low coalescence age of haplogroup Q1a3*-M346, which is estimated in South Siberia as about 4.5±1.5 thousand years ago (Ka), divergence time between these Q1a3*-M346 haplotypes and Amerindian-specific haplogroup Q1a3a-M3 is equal to 13.8±3.9 Ka, pointing to a relatively recent entry date to America. In addition, unique cluster of haplotypes belonging to Q1a*-MEH2 was found in Koryaks inhabiting the Sea of Okhotsk coast (at a frequency of 10.3%). Although the level of STR diversity associated with Q1a*-MEH2 is very low, this lineage appears to be closest to the extinct Palaeo-Eskimo individuals belonging to the Saqqaq culture arisen in the New World Arctic about 5.5 Ka. This finding suggests that Q1a*-MEH2 likely traces a population migration originating in Northeast Siberia across the Bering Strait.
authors.affiliation: Genetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya street 18, Magadan, Russia. malyarchuk@ibpn.ru
authors.forename: Boris
authors.initials: B
authors.lastname: Malyarchuk
authors.forename: Miroslava
authors.initials: M
authors.lastname: Derenko
authors.forename: Galina
authors.initials: G
authors.lastname: Denisova
authors.forename: Arkady
authors.initials: A
authors.lastname: Maksimov
authors.forename: Marcin
authors.initials: M
authors.lastname: Wozniak
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grzybowski
authors.forename: Irina
authors.initials: I
authors.lastname: Dambueva
authors.forename: Ilya
authors.initials: I
authors.lastname: Zakharov
mesh_terms: D001208:Asia; D044466:Asian People / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population / Q000379:methods*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007198:Indians, North American / Q000208:ethnology / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012800:Siberia / Q000208:ethnology