Genetic studies on Sami
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Genetic studies on Sami is the
genetic research Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wo ...
that have been carried out on the
Sami people Acronyms * SAMI, ''Synchronized Accessible Media Interchange'', a closed-captioning format developed by Microsoft * Saudi Arabian Military Industries, a government-owned defence company * South African Malaria Initiative, a virtual expertise ...
. The
Sami languages Acronyms * SAMI, ''Synchronized Accessible Media Interchange'', a closed-captioning format developed by Microsoft * Saudi Arabian Military Industries, a government-owned defence company * South African Malaria Initiative, a virtual expertise ...
belong to the
Uralic languages The Uralic languages (; sometimes called Uralian languages ) form a language family of 38 languages spoken by approximately 25million people, predominantly in Northern Eurasia. The Uralic languages with the most native speakers are Hungarian ...
family of Eurasia. Siberian origins are still visible in the Sámi, Finns and other populations of the
Finno-Ugric language Finno-Ugric ( or ; ''Fenno-Ugric'') or Finno-Ugrian (''Fenno-Ugrian''), is a traditional grouping of all languages in the Uralic language family except the Samoyedic languages. Its formerly commonly accepted status as a subfamily of Uralic is ba ...
family. An abundance of genes has journeyed all the way from
Siberia Siberia ( ; rus, Сибирь, r=Sibir', p=sʲɪˈbʲirʲ, a=Ru-Сибирь.ogg) is an extensive geographical region, constituting all of North Asia, from the Ural Mountains in the west to the Pacific Ocean in the east. It has been a part ...
to
Finland Finland ( fi, Suomi ; sv, Finland ), officially the Republic of Finland (; ), is a Nordic country in Northern Europe. It shares land borders with Sweden to the northwest, Norway to the north, and Russia to the east, with the Gulf of Bot ...
, a recen
study
indicates. As late as the Iron Age, people with a genome similar to that of the Sámi people lived much further south in Finland compared to today. The first study on the DNA of the ancient inhabitants of Finland has been published, with results indicating that a copious number of Siberian genetic variants are present in modern Sami populations. Genetic material from remains associated with Neo-Siberians has been found in the inhabitants of the Kola Peninsula from as far back as approximately 4,000 years ago, later spreading also to Finland. The study also corroborates the assumption that people genetically similar to the Sámi lived much further south than currently. Neo-Siberian populations diverged from East Asian people >11,000 years ago and expanded into Siberia, were they mixed with and replaced the previous Paleosiberian peoples. The spread of early Neo-Siberian ancestry westwards may be associated with the dispersal of
Uralic languages The Uralic languages (; sometimes called Uralian languages ) form a language family of 38 languages spoken by approximately 25million people, predominantly in Northern Eurasia. The Uralic languages with the most native speakers are Hungarian ...
. The genetic samples compared in the study were collected from human bones found in a 3,500-year-old burial place in the Kola Peninsula and the 1,500-year-old lake burial site at Levänluhta in South Ostrobothnia, Finland. All of the samples contained identical Siberian genes.


Y-DNA

Three Y chromosome haplogroups dominate the distribution among the Sami: N1c (formerly N3a), I1 – today more commonly known as I-M253 – and R1a, at least in the study carried out by K. Tambets et al. in 2004. The most common haplogroup among the Sami is N1c, with I1 as a close second according to that study. Haplogroup R1a in Sami is mostly seen in the Swedish Sami and Kola Sami populations, with a low level among the Finnish Sami according to Tambets and colleagues, a finding that suggests that N1c and R1a probably reached Fennoscandia from eastern Europe, where these haplogroups can be found in high frequencies. In Finland there is also a general difference within the Finnish population between eastern and western Finland, where eastern show a dominance of N-haplogroup and the west a dominance of I-haplogroup, where the latter is explained by a migration from southern parts of today's Norway and Sweden over to Finland as we know it today. But the spread of R1a-haplogroup amongst Sami in Sweden shows a big span from 10.1% to 36.0%, with an average of 20%, to be compared with Sami in Finland with a span from 9% to 9.9% Because Sami groups in Sweden show differences between haplogroups – such as U5b and V even thought that are mtDNA-groups – in the south of Sweden and in the north of the country (see below), the spread of Y-haplogroups such as R1a amongst groups of Sami in Sweden might be significant as well. No such study has yet been done though. However the two haplogroups R1a and N1c have a distinctly distribution when it comes to linguistic. R1a is common among Eastern Europeans speaking Indo-European languages, while N1c correlates closely with the distribution of the Finno-Ugrian languages. For example, N1c is common among the Finns, while haplogroup R1a is common among all the neighbours of the Sami. Haplogroup I1 is the most common haplogroup in Sweden, and the Jokkmokk Sami in Sweden have similar structure to Swedes and Finns for haplogroup I1 and N1c. Haplogroup I-M253 in Sami is explained by immigration (of men) during the 14th century. That is quite late in Sami history bearing in mind that an distinctive Sami culture can be traced and first observed back to 1000 BC. The
Sami languages Acronyms * SAMI, ''Synchronized Accessible Media Interchange'', a closed-captioning format developed by Microsoft * Saudi Arabian Military Industries, a government-owned defence company * South African Malaria Initiative, a virtual expertise ...
are thought to have split from their common ancestor about 3300 years ago.


mtDNA

Classification of the Sami mtDNA lineages revealed that the majority are clustered in a subset of the European mtDNA pool. The two haplogroup V and U5b dominate, between them accounting for about 89% of the total. This gives the Sami regions the highest level of haplogroups V and U5b thus far found. Both haplogroups V and U5b are spread at moderate frequencies across Europe, from Iberia to the Ural Mountains. Haplogroups H, D5 and Z represent most of the remaining averaged total. Overall 98% of the Sami mtDNA pool is encompassed within haplogroups V, U5b, H, Z, and D5. Local frequencies among the Sami vary. The divergence time for the Sami haplogroup V sequences was estimated by Max Ingman and Ulf Gyllensten at 7600 YBP (years before present), and for U5b1b1 as 5500 YBP amongst Sami and 6600 YBP amongst Sami and Finns. This suggests to them an arrival in the region soon after the retreat of the glacial ice. Other research on Sami shows that most of them do not belong to the mtDNA Haplogroup I (not to be confused for the aforementioned paternal Haplogroup I-M170) that is shared by many
Finnic peoples The Finnic or Fennic peoples, sometimes simply called Finns, are the nations who speak languages traditionally classified in the Finnic (now commonly '' Finno-Permic'') language family, and which are thought to have originated in the region of ...
.


U5b

The great majority of Sami belong to U5b U5b even though a small proportion falls into U4. The percentage of total Sami mtDNA samples tested by K. Tambets and her colleagues (published in 2004) which were U5b ranged from 56.8% in Norwegian Sami to 26.5% in Swedish Sami. In research made by M. Ingman and U. Gyllensten in 2006 is a slightly different setting shown: Norwegian Sami belongs to U5b as well as U5b1b1 to 56.8%, Finnish Sami with 40.6%, Northern Sami in Sweden to 35.5% and Southern Sami in Sweden within reindeer herding to 23.9% while Southern Sami in Sweden outside of reindeer herding/other occupation belong to U5b to 16.3% and to U5b1b1 to 12%. Sami U5b falls into subclade U5b1b1. The Sami U5b1b1 sub-clade is present in many different populations, e.g. 3% or higher frequencies in Karelia, Finland, and Northern-Russia. The Sami U5b1 motif is additionally found in very low frequencies for instance in the Caucasus region, however this is explained as recent migration from Europe. However 38% of the Sami U5b1b1 mtDNAs have haplotype so far exclusive to the Sami, containing a transition at np 16148. Alessandro Achilli and colleagues noted that the Sami and the Berbers share U5b1b, which they estimated at 9,000 years old, and argued that this provides evidence for a radiation of the haplogroup from the Franco-Cantabrian refuge area of southwestern Europe. M. Engman's and U. Gyllensten's study on mtDNA amongst Sami in Scandinavia also reveals that haplogroup H is 15.2% within the Sami traditional group in the south of Sweden, and 34.8% amongst Southern Sami in Sweden, and as high as 44.6% amongst Southern non-traditional Sami in Sweden, but just 2.6% amongst Northern Sami in Sweden, and 2.9 within the Sami group in Finland and amongst Sami in Norway to 4.7%. That result points in the direction that South Sami in Sweden have been more exposed to and/or intermarried the continental European haplogroup H earlier, and much more frequent, than Sami in the north of Sweden, in Finland and in Norway, which can be explained by Scandinavian/Swedish settlers that migrated into Southern Sami areas in Sweden from areas like Mälardalen.


V

The divergence time for the Sami haplogroup V sequences is estimated by M. Ingman and U. Gyllensten at 7,600 years ago. But there is a difference within the Sami group in Sweden according to their study. North Sami (Sami in the North of Swedish Lapland) belong to haplogroup V with 58.6% and South Sami (Sami in the South of Swedish Lapland) within reindeer herding to 37.0% and South Sami outside reindeer herding/other occupation to 8.7%. That can be compared with Sami in Norway that has a 33.1% belonging to haplogroup V and Sami in Finland to 37.7%. Sami in Finland and South Sami within reeinder herding in Sweden have the same percentage belonging to haplogroup V. But according to K. Tambets' et al. study is haplogroup V the most frequent haplogroup in the Swedish Sami and is present at significantly lower frequencies in Norwegian and Finnish subpopulations. Note though, that in the study made by K. Tambet's et al. has no differentation between Sami in the north and the south of Sweden been made, which otherwise probably would change the outcome of their study. Torroni and colleagues have suggested that the spread of haplogroup V in Scandinavia and in eastern Europe is due to its late Pleistocene/early Holocene expansion from a Franco-Cantabrian glacial refugium. However subsequent studies found that haplogroup V is also significantly present in eastern Europeans. Furthermore, haplogroup V lineages with HVS-I transitions 16153 and 16298 that are frequent in the Sami population are much more widespread in eastern than in western Europe. So haplogroup V might have reached Fennoscandia via central/eastern Europe. Such a scenario is indirectly supported by the absence, among the Sami, of the pre-V mtDNAs that are characteristic of southwestern Europeans and northwestern Africans.


Z

Haplogroup Z In human mitochondrial genetics, Haplogroup Z is a human mitochondrial DNA (mtDNA) haplogroup. Origin Haplogroup Z is believed to have arisen in Central Asia, and is a descendant of haplogroup CZ. Distribution The greatest clade diversity of ha ...
is found at low frequency in the Sami and Northern Asian populations but is virtually absent in Europe. Several conserved substitutions group the Sami Z lineages with those from Finland and the Volga-Ural region of Russia. The estimated dating of the lineage at 2700 years suggests a small, relatively recent contribution of people from the Volga-Ural region to the Sami population. Haplogroup Z is most frequent in Northeastern Asia. It is also present in Siberian populations as well as in the region of Volga-Ural, as just mentioned. Subhaplogroup Z1 is present in lineages in Western Asia and Northern Europe as well as in the Koryak and Itel'men populations. Interestingly enough, is haplogroup Z is most frequent amongst maritime Koryaks with just a bit over 10%, but is not at all present in reindeer-herding Koryaks. The Itel'men and Koryak populations live on the
Kamchatka peninsula The Kamchatka Peninsula (russian: полуостров Камчатка, Poluostrov Kamchatka, ) is a peninsula in the Russian Far East, with an area of about . The Pacific Ocean and the Sea of Okhotsk make up the peninsula's eastern and w ...
, the former in the south and the latter in the very north.


Autosomal DNA

Autosomal genetic analyses found that the Sámi people cluster in a distinct position, shifted away from other
Europeans Europeans are the focus of European ethnology, the field of anthropology related to the various ethnic groups that reside in the states of Europe. Groups may be defined by common genetic ancestry, common language, or both. Pan and Pfeil (20 ...
, with significant amount of genome originating from a Neo-Siberian source population, best represented by the
Nganasan people The Nganasans (; Nganasan: ''ŋənəhsa(nəh)'', ''ńæh'') are a Uralic people of the Samoyedic branch native to the Taymyr Peninsula in north Siberia. In the Russian Federation, they are recognized as one of the indigenous peoples of the Ru ...
. The specific Siberian like ancestry is proposed to have arrived to Northeast Europe during the early Iron Age, linked to the arrival of
Uralic languages The Uralic languages (; sometimes called Uralian languages ) form a language family of 38 languages spoken by approximately 25million people, predominantly in Northern Eurasia. The Uralic languages with the most native speakers are Hungarian ...
. The Siberian component is estimated to make up roughly 25%. The
Mesolithic The Mesolithic ( Greek: μέσος, ''mesos'' 'middle' + λίθος, ''lithos'' 'stone') or Middle Stone Age is the Old World archaeological period between the Upper Paleolithic and the Neolithic. The term Epipaleolithic is often used synonymo ...
"
Western European Hunter-Gatherer In archaeogenetics, the term Western Hunter-Gatherer (WHG), West European Hunter-Gatherer or Western European Hunter-Gatherer names a distinct ancestral component of modern Europeans, representing descent from a population of Mesolithic hunter-gat ...
" (WHG) component is close to 15%, while that of the Neolithic "European early farmer" (LBK) is 10%. About 50% is associated with the Bronze Age " Yamna" component, the earliest trace of which is observed in the Pit–Comb Ware culture in
Estonia Estonia, formally the Republic of Estonia, is a country by the Baltic Sea in Northern Europe. It is bordered to the north by the Gulf of Finland across from Finland, to the west by the sea across from Sweden, to the south by Latvia, an ...
, but in a 2.5-fold lower percentage.*


See also

* Genetic history of Europe * Y-DNA haplogroups by ethnic groups


Notes


References


Further reading

* * {{DEFAULTSORT:Population Genetics Of The Sami Sámi
Sami Acronyms * SAMI, ''Synchronized Accessible Media Interchange'', a closed-captioning format developed by Microsoft * Saudi Arabian Military Industries, a government-owned defence company * South African Malaria Initiative, a virtual expertise ...
Sami Acronyms * SAMI, ''Synchronized Accessible Media Interchange'', a closed-captioning format developed by Microsoft * Saudi Arabian Military Industries, a government-owned defence company * South African Malaria Initiative, a virtual expertise ...
Sami Acronyms * SAMI, ''Synchronized Accessible Media Interchange'', a closed-captioning format developed by Microsoft * Saudi Arabian Military Industries, a government-owned defence company * South African Malaria Initiative, a virtual expertise ...