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Haplogroup HV (mtDNA)


Introduction

Haplogroup HV is the most successful maternal lineage in Europe and the Near East. Over half of the European population and between 25% and 40% of the Near Eastern population descends from a single common female progenitor who lived at least 25,000 years ago, and perhaps as much as 40,000 years ago. This common ancestor is the founder of the HV lineage. Most Europeans belonging to the HV lineage descend from a branch that was renamed haplogroup H. Another small but substantial European branch was called haplogroup V. This page concrentrates on the 17 other sister subclades that are neither classified as H nor V. Most of these subclades have a more recent Middle Eastern origin.

Geographic distribution

HV is found at a frequency ranging from 4% to 9% in most of the Middle East. Its highest frequency is observed in Iraq and Kurdistan (9%), as well as among the Dargins (9%) of Dagestan, in the north-east Caucasus. HV is unevenly spread around Europe, being extremely rare in Finland, Scandinavia (except Iceland), the British Isles, the Netherlands, Germany, Switzerland, Austria, Albania, and most of Iberia. The highest percentages of haplogroup HV in Europe are observed in Calabria (10%), Sicily (5%), Tuscany (5%), Sardinia (4.5%), Bulgaria (4%), southern Belarus (4%), Croatia (3.5%), Ukraine (3.5%), Iceland (3.5%), Greece (3%), Cyprus (2.5%), and Romania (2.5%).

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

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

Origins & History

Haplogroup HV originated at least 25,000 years ago, perhaps during the Last Glacial Maximum (LGM) like many other top-level haplogroups. The oldest evidence of haplogroup HV in Europe comes from the testing of a 13,000 year-old sample from La Pasiega in Cantabria (northern Spain), dating from the Magdalenian period (18,000-10,000 years before present) as analysed by Hervella et al. (2012), which could have belonged to haplogroup R0 or HV.

Since most Mesolithic samples from central and northern Europe tested to date were found to belong to haplogroup U (mainly U5, with some U2 and U4), it is more likely that haplogroup HV, H and V evolved from the populations of Mediterranean hunter-gatherers and only spread northward from the Neolithic period onward.

There is ample evidence that HV was found at low frequencies among Neolithic farmers both in the Near East (in Pre-Pottery Neolithic Syria) and in Europe. HV has been found in ancient samples from the the Linear Pottery culture and its descendants (Schöningen, Baalberge) in Germany and the Cucuteni-Trypillian culture in Ukraine. No HV sample other than HV0 (i.e. haplogroup V) has so far been found in the Starčevo culture, nor in the Cardium Pottery or Megalithic samples from France, Spain and Portugal though.

The Bronze Age Indo-Europeans do not seem to have carried a lot of HV lineages (i.e. other than H and V). Out of over 100 Early Bronze Age samples that have been tested to date, only one HV6'17 from the Corded Ware culture and one HV6 Unetice culture were identified, but none in the Proto-Indo-European homeland in the Pontic-Caspian Steppe.

Hughey et al. (2013) analysed 34 samples from the Minoan civilization and found three HV samples, a remarkably high 8.8% of all samples, a percentage more typical of Mesopotamia than of anywhere in Europe, except perhaps Calabria. This, along with the presence of other typically Middle Eastern lineages such as R0, I5, H5, H7, H13a1a and others, suggests that the Minoans moved straight from the Middle East to Crete during the Bronze Age. Modern Greeks have much lower levels of haplogroup HV.

Haplogroup HV appears to have prospered in Mesopotamia, and was probably an important Assyrian and Babylonian female lineage. The modern distribution of mtDNA HV is particularly reminiscent that of Y-DNA haplogroup T. Haplogroup HV is found as far south as Ethiopia and Somalia, which are also hotspots of Y-haplogroup T. This strongly suggests that maternal HV and paternal T lineages spread together from the Fertile Crescent, and notably Mesopotamia, to Egypt and the Horn of Africa, as well as to central and eastern Europe. This is especially true of the HV1 subclade. (=> See also Correlating the mtDNA haplogroups of the original Y-haplogroup J1 and T1 herders).

Subclades

  • HV
    • HV0 and V
    • HV1 : found in Ukraine, Italy, Israel, Armenia, North Africa, Yemen, Ethiopia and Somalia
      • HV1a'b'c
        • HV1a
          • HV1a1
            • HV1a1a
            • HV1a1b
          • HV1a2
            • HV1a2a
          • HV1a3
        • HV1b
          • HV1b1
            • HV1b1a
            • HV1b1b
          • HV1b2
          • HV1b3
        • HV1c
      • HV1d
    • HV2 : found in the Middle East and Slovakia
      • HV2a
    • HV4 : found in Mesopotamia, Jordan, Egypt, Bulgaria, Russia, Italy, Germany and northern Spain.
      • HV4a
        • HV4a1
          • HV4a1a
        • HV4a2
          • HV4a2a
          • HV4a2b
      • HV4b
      • HV4c
        • HV4c1
    • HV5 : found around Lithuania, Belarus and Poland
    • T16311C! (formerly HV3)
      • HV6 : found in Iran, Russia, Slovakia and Britain
      • HV7 : found in Russia, Ukraine and Sicily
      • HV8 : found in southern Russia and Slovakia
      • HV9 : found in Italy, the Czech Republic, Poland, Russia, Scandinavia and Britain
        • HV9a
        • HV9b
        • HV9c
      • HV10 : found around the Alps
      • HV11 : found in Italy
        • HV11a
      • HV14 : found in Lebanon and China
      • HV15 :
      • HV16 : found in Germany, Hungary and the British Isles
      • HV17 : found in the Czech Republic
    • HV12 : found in Iran
      • HV12a
        • HV12a1
        • HV12b
          • HV12b1
    • HV13 : found in Iran
    • Haplogroup H :

Associated medical conditions

The common C150T mutation has been found at strikingly higher frequency among Chinese and Italian centenarians and may be advantageous for longevity and resistance to stress according to Chen et al. (2012). C150T defines haplogroups HV1a1 and HV12b.

The T16189C polymorphism, defining haplogroup HV1b2, lowers the rate of mtDNA replication and consequently the number of mtDNA copies, reducing metabolic efficiency. It has been linked to maternally inherited thinness (Parker 2005), thinness at birth (Soini 2012) and increased body mass index (Liou 2007), and increased frequency of type 2 diabetes in the UK (Poulton 2002) and in Asia (Weng 2005 and Park 2008).

A study conducted by Maruszak et al. (2014) analysed the mtDNA of 395 elite Polish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls and found that haplogroup HV is among the most overrepresented mtDNA types among power athletes at the Olympic/World Class level. Haplogroup HV1d in particular carries the 16362C mutation, one of the two polymorphisms associated in this study with achieving the elite performance level.

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