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Haplogroups HV0 and V (mtDNA)

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Geographic distribution

Few academic studies to date have clearly distinguished haplogroup HV0 from haplogroup V for the simple reason that V and most of its subclades can only be identified through mutations in the coding region of the mitochondrion, and that studies until a few years ago generally tested only the hypervariable region (HVR) for budget reasons. The frequencies and distribution map on this page consequently do not distinguish between HV0 and V.

Haplogroups HV0 and V are remarkably evenly distributed across all Europe and North Africa, with a frequency ranging from 2% to 8% in practically all countries and regions. The only populations with substantially higher incidence of HV0 or V are the Sami (42%) of northern Scandinavia and Finland, and the Cantabrians (19%), isolated in mountains in northern Spain. Overall, HV0/V are slightly more common in around the Baltic, in Iberia and in the Maghreb than elsewhere.

Although haplogroup HV is most frequent in the Near East, where it probably originated, haplogroups HV0 and V are quite rare in that region. HV0/V are found in less than 1% of the Middle Eastern population in average, and are almost completely absent from the Arabian peninsula.

Distribution of mtDNA haplogroup V in Europe, North Africa and the Middle East

Distribution of mtDNA haplogroup V in Europe, North Africa and the Middle East

Origins & History

Haplogroup V represents the larger genealogical branch downstream of haplogroup HV0, which is defined by the mutations T72C and T16298C. What is known as haplogroup V is actually a more convenient renaming of haplogroup HV0a2. The mutation defining haplogroup HV0 is thought to have taken place around the Last Glacial Maxium (c. 19,000 to 26,000 years ago), while haplogroup V would have arisen in the Late Glacial period, some time between 16,000 and 12,000 years ago. Their places of origin remain highly controversial and could be anywhere in Europe, North Africa, or the Near East.

Mesolithic European hunter-gatherers or Neolithic farmers from Anatolia?

The extremely high prevalence of haplogroup V among the Sami, who have very little Neolithic farmer admixture, and maintained a hunter-gathering lifestyle throughout the ages, is the best evidence that haplogroup V did not originate in the Near East but in Mesolithic Europe. Another argument is that HV0 and V are much rarer in the Near East than in Europe, and practically absent in the Arabian peninsula, Mesopotamia and Georgia, three of the regions with the highest ancestry derived from the Neolithic Fertile Crescent - because they were less affected by later Indo-European migrations, Persian, Greek and Roman conquests, or the settlements of European crusaders in the Middle Ages.

That being said, R0 and its descendant HV are indubitably Middle Eastern haplogroups. So the question is where did the first HV woman get the mutation for HV0? It certainly happened at the height of the last Ice Age, when glaciers would have made the northern half of Europe uninhabitable, and hunter-gatherers would have sought refuge in southern Europe. It is very possible that HV0 developed in Anatolia during that period, and moved out into Europe several millennia later, during the Late Glacial period, when glaciers started to retreat and nomadic tribes of southern Europe started recolonising the north of Europe, leaving a vacuum in the south for Anatolian hunter-gatherers to expand into. They were probably accompanied by other Late Glacial Anatolian lineages like J1c and T2.

In the 10,000 years between the end of the Last Glacial Maxium and the arrival of Near Eastern Neolithic farmers in Europe, HV0 and V lineages would have had time to spread across most of Europe and even to cross into Northwest Africa with haplogroup H1, H3 and U5b. The absence of clear geographical dispersal pattern within HV0 and V subclades is consistent with the nomadic lifestyle of hunter-gatherers, who would have roamed all around Europe in the Late Glacial and postglacial period.

Many ancient DNA studies since 2013 have tested complete mtDNA sequences from a variety of Paleolithic, Mesolithic, Neolithic and Bronze Age sites that allowed the clear identification of haplogroups HV0 and V. Unfortunately there are still very few reliable Paleolithic or Mesolithic samples from southern Europe at the moment. Eventhough the vast majority of central, northern or eastern Europeans from this period belonged to haplogroups U2, U4, U5 or U8, little is known of the genetic make-up of populations in southern Europe, who could have been very different.

What is certain for now is that both HV0 and V start to show up in the archeological record in Neolithic cultures. However, neither lineage has yet been found among the numerous Anatolian or Levantine Neolithic samples, so it remains unclear whether HV0 and V were maternal lineages that were native to the Balkans and were assimilated by early farmers and spread around Europe with them, or if they were already found among Near Eastern farmers. The former hypothesis is the most likely considering that many other lineages, both matrilineal (many H subclades, J1c, T2a, T2b, T2e, and the clearly Paleolithic European U2, U4, U5 and U8) and patrilineal (the Paleolithic European I1 and I2) were absent from the Middle East in the Neolithic, but do immediately show up alongside Near Eastern lineages in Neolithic European samples everywhere. It is therefore undeniable that a considerable amount of intermingling occured between early farmers and local European hunter-gatherers from the very beginning.

Consequently, the most likely scenario at present is that haplogroups HV0 and V, were already present in southern Europe at least from the Mesolithic period. Like several J1c and T2 subclades, they may have spent the Last Glacial Maximum in the Anatolian refugium, then re-expanded to the Balkans in the late glacial period. This is probably also the case for the majority of subclades of haplogroup H - except notably H5, H13 and H14, which are clearly Middle Eastern.

How did the Sami get such high percentages of haplogroups U5b and V?

The Sami (also known as Lapps) were Europe's last hunter-gatherers. They have kept a semi-nomadic lifestyle until modern times, herding mostly reindeer and some sheep. They are related to the Finns, who like them speak an Uralic language, but are very genetically distinct from other Europeans. The Sami are the only European who do not possess any Caucasian, West Asian, Southwest Asian or African autosomal admixture. They also have the highest level of Mesolithic European and Ancient North Eurasian ancestry. Their matrilinear lineages are surprisingly undiversified, possessing 48% of U5b1b1 and 42% of V (V1a1a and V5), two haplogroups that they strangely share with some Berber groups from Northwest Africa and the Fulbe people from Senegal (although these two ethnic groups carry much lower percentages of U5b and V diluted among other lineages) U5b1b1 and V are also found together in the Iberian peninsula, especially among Cantabrians, who have 11% of U5b and 19% of V.

The Sami appear to be descended from a merger of Mesolithic hunter-gatherers from southern and central Europe (respectively represented by their two main maternal lineages: V and U5b). These Mesolithic nomads would have been pushed always further north and west by the wave of Neolithic farmers who quickly colonised southeast then central Europe. The Proto-Indo-Europeans of the Corded Ware culture later invaded southern Scandinavia and the eastern Baltic, pushing the remnants of U5b and V hunter-gatherers to the far north of Europe. Neolithic and Bronze Age newcomers are thought to have similarly pushed Mesolithic tribes to the far north of Spain, notably behind the mountains of Canatbria and the Basque country, and across the Strait of Gibraltar to Africa.

Only appoximately 2,500 to 3,000 years ago, did the Uralic speakers from northern Russia move into northern Fennoscandia with their herds of reindeers, bringing a semblance of Neolithic lifestyle. They carried the Y-chromosomal haplogroup N1c1 and (at least) the mitochondrial haplogroup Z1, both of Siberian origin. Uralic tribes would have intermarried with the northern Fennoscandian hunter-gatherers, and progressively replaced their paternal lineages with Uralic ones, while maintaining most of the local maternal lineages. The process was almost certainly gradual, and probably involved a sort of elite dominance among the clan's chieftain, as is common among herding societies. With the patriarch and owner of the herd marrying local hunter-gatherer women at each generation, the Uralic speakers would have increasingly closer genetically to the indigenous Fennoscandians, which explains why modern Sami have less than 3% of Siberian autosomal DNA despite their 53% of N1c1 patrilinear lineages

The other half of their paternal lineages, on the other hand, seem to be a blend of Norwegian, Swedish and Finnish Y-haplogroups (I1, R1a and R1b, with traces of E1b1b and J2), which can be explained by the increasing number of Scandinavians and Finns moving north and taking Sami wives in the last few centuries. In all likelihood, none of the Mesolithic Fennoscandians' original Y-DNA lineages survive today. Ancient DNA tests have shown that Mesolithic Scandinavians carried Y-haplogroups I* and I2a1, which were probably the paternal lineages of these original U5b and V people.

A number of studies have identified HV0 and V among the remains of many European Neolithic cultures, including (chronologically) the Starčevo culture in Hungary (± 7,600 year-old V sample) and Croatia (both HV0 and V samples, including one V6), the Linear Pottery culture (LBKT) in Hungary (± 7,100 year-old V sample), the Rössen culture in Germany (± 6650 year-old HV0 and V samples), the Salzmünde culture in Germany (± 5,200 year-old V sample), Bernburg culture in Germany (± 4,850 year-old V sample), the Megalithic culture in Northern Ireland (± 5,200 year-old HV0 sample), and the Cardium Pottery culture (± 5,000 year-old HV0 and V samples) in southern France.

Two HV0 samples from the Pitted Ware culture (c. 3200-2300 BCE) in Sweden is officially classified as Mesolithic, but is contemporary with Chalcolithic and Early Bronze Age culures elsewhere in Europe. Therefore it cannot be ruled out that this lineage came from intermarriages with neighbouring farmers, or represent farmers who went back to a hunter-gatherer lifestyle due to unfavourable climatic conditions in Scandinavia at the time.

Were HV0 and V found among the Bronze Age Indo-Europeans ?

Haplogroup V has not been found in prehistoric sites in Northeast Europe, nor in any Indo-European burial in the Eurasian steppe or Central Asia. This is particularly strange since it is present everywhere in Europe today, and its frequency is higher than the European average in north-western Russia (> 5%). Only one Early Bronze Age individual from 3500 BCE from the Novosvobodnaya culture in the North Caucasus turned up positive for haplogroup V - more specifically V7 (Nedoluzhko et al. (2014)). This is interesting because that particular culture was comprised between the Maykop culture, the world's first Bronze Age culture, and the Yamna culture occupying the Pontic-Caspian Steppe and widely regarded as the homeland of the Proto-Indo-European speakers, or at least of the R1b branch. Haplogroup V7 is now found in Slavic countries, Germany and Scandinavia, all regions associated with the spread of the R1a branch of the Indo-Europeans through the Corded Ware culture.

Among Bronze Age sites linked to the advance of Indo-European speakers in Europe, one haplogroup HV0e sample has been found in the Corded Ware culture in Germany, as well as several V samples (including a V9) from the Unetice culture. Once again HV0 and V are conspicuous by their extremely low frequency compared to nowadays. It is nevertheless possible that haplogroup HV0/V was present among the Proto-Indo-European speakers of the Maykop and Yamna cultures, considering that its frequency is as high in the Northwest Caucasus and the Pontic-Caspian Steppe today as anywhere else in Europe. The two V subclades most likely to have been part of the Indo-European migrations are V7a, found mostly in Slavic countries, and V15, which is found in northwest Europe and in Armenia (which would link it to Y-haplogroup R1b).

Haplogroup V has also been found in most Uralic and Altaic populations in North Asia, and even at trace frequencies as far as east as Mongolia. Some V lineages could have been absorbed by the expansion of Ural-Altaic populations (Y-haplogroup N) in North Asia, which would explain its high frequency among the Finns and Sami.

More intriguingly, haplogroup V is one of the four Eurasian haplogroups found among the Fulani people of Central Africa, who have high percentages of haplogroup R1b-V88. It is not clear if this is because V was one of the original haplogroups of R1b people, or because the Fulani intermarried with Berbers from Northwest Africa who also carry haplogroup V. Unfortunately no data is available on the V subclades of the Fulani at present.

Subclades

  • HV0
    • HV0a
      • HV0a1: found in the British Isles, Germany and Finland
      • V (aka HV0a2)
        • V1
          • V1a
            • V1a1: found mostly from central to northeast Europe
              • V1a1a: found in Scandinavia (including Lapland), Finland and Baltic countries
              • V1a1b
          • V1b
        • V2: found in the British Isles
          • V2a: found in Ireland
          • V2b: found in England
          • V2c: found in England
        • V3
          • V3a: found in northwest Europe
          • V3b
          • V3c: found in northern, central and eastern Europe
        • V4: found in France
        • V5: found in Lapland
        • V6: found in France
        • V7
          • V7a: found mostly in Slavic countries, but also in Scandinavia, Germany and France
          • V7b: found in eastern Europe and France
        • V8: found in Sweden
        • V9
          • V9a: found in the British Isles
            • V9a1
            • V9a2
        • V10: found in the British Isles, northwest France and Sweden
          • V10a
          • V10b
        • V11
        • V12: found in Germany
        • V13: found in Norway, Hungary and Russia
        • V14: found in Poland and Iberia
        • V15: found in England, Norway and Armenia
        • V16: found in Britain, Germany and Denmark
        • V17: found in England
        • V18: found in the Netherlands, Germany and Italy
        • V19
        • V20: found in Norway
        • V21
    • HV0b: found in Ireland, Central Europe, Belarus and Italy
    • HV0c
    • HV0d: found in Scandinavia, Morocco and India
    • HV0e
    • HV0f: found in Sweden and Italy

Famous individuals

The mitochondrial haplogroup of Benjamin Franklin was determined through descendants testing of his maternal aunt, Doras Folger. Benjamin Franklin was one of the Founding Fathers of the United States and a major figure in the American Enlightenment. Political theorist, statesnman, diplomat, scientist, he is also known for being the inventor of the lightning rod, bifocals, and the Franklin stove.

Bono at the 2014 Web Summit (CC BY 2.0)

Population geneticist Spencer Wells, the director of the Genographic Project, announced that Bono, the lead vocalist for the Irish rock band U2, belonged to mtDNA haplogroup V.

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