- Population Genetics of the Sami Peoples
Autosomal DNA in Sami Populations
In the early years of genetic research the Sami people caught the scientists interest because of their unusual blood group distribution (Boyd 1939, Mourant 1952, Ryttinger 1957). In later years, the use classic chromosomal marker variation did not enlighten any further the origin of the Sami, extensive Caucasoid and Mongoloid admixture were suggested (Cavelli-Sforza 1994), however not all studies supported the idea of extensive admixture (Beckman 1996, Niskanen 2002). The classical markers genetic distance showed the Sami to have no close relatives in any populations, but a closer affinitity to neightbouring populations (Cavelli-Sforza 1994, Niskanen 2002). The Sami are not more closely related to
Siberian andMongol populations than other European populations, even their Scandinavian neighbours (Niskanen 2002), this in contrast to the historically held view that the Sami are of Siberian-Asiatic origin.mtDNA Haplogroups in Sami Populations
Overview
As with all other Central and Northern European populations, the mitochondrial (mtDNA) lineage of the indigenous Sami peoples stems largely from a hunter-gatherer population that resided in southwestern Europe during the late Upper Paleolithic (Torroni 1996, Achilli 2004). However, the distribution and frequency of mtDNA haplogroups in Sami populations varies from the distribution patterns of other European and world populations (Tambets 2004).
mtDNA haplogroups V and U (via restricted sequence subsets of its subgroup U5b) represent 89.2% of the averaged total mtDNA haplogroups. mtDNA haplogroup H (which resided in Europe and the Middle East during the Upper Paleolithic) and mtDNA haplogroups D5 and Z (which resided in Asia during the Upper Paleolithic) represent most of the remaining averaged total mtDNA haplogroups. (Local frequencies vary according to region or population.) Of these, the Haplogroups V and U5b have maximums in occurrence in Northern Europe in Sami regions (Tambets 2004).
Restricted mtDNA sequence variations (and subsets in the case of haplogroup U) of wider mitochondrial lineages that stemmed from Southwest Europe and that are today found elsewhere at low and moderate frequencies throughout Europe characterize the strongly outlying nature of the Sami peoples' mtDNA profile and are the result of
genetic drift andfounder effect s (Cavelli-Sforza 1994, Sajantila 1996, Tambets 2004).mtDNA Haplogroup V
The averaged total of
mtDNA haplogroup V in Sami populations overall is ~40% (Meinilä 2001).Some other populations that share a higher rate of
haplogroup V include theBasque (12.4%) andPasiego people (18.6%) of theIberian Peninsula , fact|date=June 2008 and fellow Uralic/Finno-Ugric languages speakers, the Mari people of the Volga-Ural region of Russia (10.2%).The founding motif of haplogroup V is 16298C (Torroni 1996). The next most common haplotype motif (also shared among populations) is 16298C–16153A, which is found in Berbers, Germans, Finns,
Volga Finns , and Sami peoples (Torroni 1996). Unlike mtDNA subhaplogroup U5b HVR1 haplotypes in the Sami peoples, most of the mtDNA haplogroup V HVR1 haplotypes are seen in other European populations, as well (Torroni 2001).Mitochondrial and autosomal DNA findings and the archaeological record indicate that mtDNA haplogroup V, along with its sister mtDNA haplogroup H (both stemmed from mtDNA haplogroup HV), likely expanded from Franco-Cantabria to Central and Northern Europe after the Second Pleniglacial, or about 12,700 to 10,600 B.C.E. (Torroni 1996, Loogväli 2004, Achilli 2004).
Matching coalescence ages and distribution patterns, and indications from the archaeological record, indicate that mtDNA haplogroup V shares a common origin and spread with mtDNA haplogroup H's subgroups H1 and H3. (Today, mtDNA haplogroup V appears widely throughout western Eurasia but at lower rates outside of Sami populations. Obversely, mtDNA haplogroup H is the most common mtDNA haplogroup in western Eurasia, and its subgroups H1 and H3 make up a large percentage of its total distribution.) Such findings regarding mtDNA haplogroups V, H1, and H3 "attest that the Franco-Cantabrian refuge area was indeed the source of late-glacial expansions of hunter-gatherers that repopulated much of Central and Northern Europe from ∼15,000 years ago" (Achilli 2004).
In addition, correlation analysis and variance and haplotype analysis indicate that mtDNA haplogroup U5b (common in Sami peoples, especially in restricted subsets, Finns, and Estonians) (Villems 2002) and y-DNA haplogroup I1a (common in Sami peoples, Finns, Estonians, Swedes, and Norwegians) also expanded alongside mtDNA haplogroup V from southwestern Europe (Rootsi 2004).
Very low sequence variation and the appearance of only the two most common HVS-I sequences in the Sami indicate that haplogroup V admixed recently from another northwestern European population/s and that a pronounced founder event occurred (Torroni 1996). According to branch length calculations, the most recent common ancestor of the Sami peoples' mtDNA haplogroup V sequences is dated at about 5,600 B.C.E. (Ingman 2006).
mtDNA Subhaplogroup U5b
mtDNA subhaplogroup U5b appears at 32% - 52% in Sami populations (depending on population) (Meinilä 2001).
mtDNA haplogroup U was the first modern human mtDNA haplogroup to appear in Europe. Its oldest subgroup, U5, originated ~50,000 B.C.E. (Finnilä 2000)
Almost 50% of subhaplogroup U5's subclade U5b1b1 HVR1 haplotypes are unique to Sami populations and do not occur elsewhere, while most of the haplogroup V HVR1 haplotypes is also seen among other European populations (Torroni 2001). The age of haplogroup U5b1b1 was estimated by Delghandi 1998 using HVR1 haplotypes only to be between 5 500 to 10 500 years old, and by Ingman 2006 using full mtDNA sequences haplogroup U5b1b1 and V was estimated to be 5 500 and 7 500 years old respectively. It is believed on the basis of correlation analysis that haplogroup V and U5b migrated togheter with male haplogroup I1a (Rootsi 2004) and on the basis of variance and haplotype analysis its believed they migrated from western Europe.
The "Sami-specific motif" subset of mtDNA subhaplogroup U5b occurs in 12% of Finns (compared to 34% in Finnish Sami) in Finland's Oulu Province as a result of Sami admixture. (Finns in the more northern Lapland Province were not studied because recent maternal Sami ancestry could not ruled out.) (Meinilä 2001)
yDNA Haplogroups in Sami Populations
Sami Y chromosomes haplogroup distribution is similar to the
Finns andEstonians with haplogroup N3, I1a and R1a as major haplogroups (Tambets 2004). Haplogroup I1a is common among all neighbouring populations (Dupuy 2005, Karlsson 2006, Lappalainen 2006, Tambets 2004). Haplogroup N3a is common among the Finns, while haplogroup R1a is common among all the neighbours except the Finns (Lappalainen 2006). Haplogroup R1a in Sami is mostly seen in the Swedish Sami and Kola Sami populations (Tambets 2004). However, an analysis of the microsatellite substructure of haplogroup I1a and N3a among theEast Sami reveals that Finns and Estonians are an unlikely source of recent contributions (Raitio 2001), while the Jokkmokk Saami in Sweden have similar structure as among Swedes and Finns for haplogroup I1a and N3 (Karlsson 2006).ee also
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Basque people#Genetics
*Y-DNA haplogroups by ethnic groups References
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