Haplogroup T (mtDNA)

Haplogroup T is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated around 25,000 years ago in the Near East.

Origins

Mitochondrial haplogroup T derives from the haplogroup J'T, which also gave rise to mtDNA haplogroup J. The T clade is thought to have emanated from the Near East (Bermisheva 2002).

Distribution

Projected spatial frequency distribution for haplogroup T.

Basal haplogroup T* is found among Algerians in Oran (1.67%) and Reguibate Sahrawi (0.93%).^[1] It is also distributed among the Socotri (1.2%).^[2]

Haplogroup T is a widespread haplogroup throughout Western and Central Eurasia with varying degrees of prevalence and certainly might have been present in other groups from the surrounding areas. T is found in approximately 10% of native Europeans.^[3][4] It is also common among modern day Iranians. Based on a sample of over 400 modern day Iranians (Kivisild and Metspalu 2003), the T haplogroup represents roughly 8.3% of the population (about 1 out of 12 individuals), with the more specific T1 subtype constituting roughly half of those. Furthermore, the specific subtype T1 tends to be found further east and is common in Central Asian and modern Turkic populations (Lalueza-Fox 2004), who inhabit much of the same territory as the ancient Saka, Sarmatian, Andronovo, and other putative Iranian peoples of the 2nd and 1st millennia BC. Lalueza-Fox et al. (2004) also found several T and T1 sequences in ancient burials, including Kurgans, in the Kazakh steppe between the 14th-10th centuries BC, as well as later into the 1st millennia BC. These coincide with the latter part of the Andronovo period and the Saka period in the region.^[5]

Haplogroup T is currently found with high concentrations around the eastern Baltic Sea.

The geographic distribution within subclade T2 varies greatly with the ratio of subhaplogroup T2e to T2b reported to vary 40-fold across examined populations from a low in Britain and Ireland, to a high in Saudi Arabia (Bedford 2012). Within subhaplogroup T2e, a very rare motif is identified among Sephardic Jews of Turkey and Bulgaria and suspected conversos from the New World (Bedford 2012). Found in Svan population from Caucasus (Georgia) T* 10,4% and T1 4,2%. T1a1a1 is particularly common in countries with high levels of Y-haplogroup R1a, such as Central and Northeast Europe, but also everywhere in Central Asia and deep into North Asia, as far east as Mongolia.

T2c and T2d appear to have a Near Eastern origin around the time of the Last Glacial Maximum and more recent dispersals into Europe. Most of T2c comprises haplogroup T2c1. Apart from a peak in Cyprus, T2c1 is most common in the Gulf region but is also found in the Levant and in Mediterranean Europe, with a more far-flung distribution at very low levels.^[6]

T2 is also found among the Socotri (7.7%).^[2]

Archaeology

Wilde et al. (2014) tested mtDNA samples from the Yamna culture, the presumed homeland of Proto-Indo-European speakers. They found T2a1b in the Middle Volga region and Bulgaria, and T1a both in central Ukraine and the Middle Volga. The frequency of T1a and T2 in Yamna samples were each 14.5%, a percentage higher than in any country today and only found in similarly high frequencies among the Udmurts of the Volga-Ural region.^[7]

Africa

In Africa, haplogroup T is primarily found among Afro-Asiatic-speaking populations, including the basal T* clade.^[1] Some non-basal T clades are also commonly found among the Niger-Congo-speaking Serer due to diffusion from the Maghreb, likely with the spread of Islam and urban civilizations.^[8]

Subclades

Schematic tree of mtDNA haplogroup T. Ages (in ka) indicated are maximum likelihood estimates obtained for the whole-mtDNA genome.

Tree

This phylogenetic tree of haplogroup I subclades is based on the paper (van Oven 2008) and subsequent published research (Behar 2012b). For brevity, only the first three levels of subclades (branches) are shown.

• T
  • T1
    • T1a
      • T1a1
    • T1b
  • T2
    • T2a
      • T2a1
    • T2b
      • T2b1
      • T2b2
      • T2b3
      • T2b4
      • T2b5
      • T2b6
    • T2c
      • T2c1
    • T2d
    • T2e
      • T2e2
    • T2f
      • T2f1
    • T2g

Health Issues

One study has shown Haplogroup T to be associated with increased risk for coronary artery disease (Sanger 2007). However, some studies have also shown that people of Haplogroup T are less prone to diabetes (Chinnery 2007 and González 2012).

A few tentative medical studies have demonstrated that Haplogroup T may offer some resistance to both Parkinson's disease and Alzheimer's disease.^{[Footnote 1]}

One study has found that among the Spanish population, Hypertrophic CardioMyopathy (HCM) also referred to as Hypertrophic Obstructive CardioMyopathy or HOCM is more likely to happen in those of T2 ancestry than those in other maternal haplogroups.^[9] It is unknown whether or not this is specific to this subclaude of haplogroup T or is a risk factor shared by all of haplogroup T. With a statistically significant difference found in such a small sample, it may be advisable for those of known haplogroup T maternal ancestry to be aware of this and have their physician check for evidence of this condition whan having a routine exam at an early age. It is usually symptom-less and increases the risk of sudden cardiac death, which often happens to those of as early in life as teenagers and may affect those who are active and have no other risk factors.^[10]

Certain medical studies had shown mitochondrial Haplogroup T to be associated with reduced sperm motility in males, although these results have been challenged (Mishmar 2002). According to the Departamento de Bioquimica y Biologica Molecular y Celular, Universidad de Zaragoza, Haplogroup T can predispose to asthenozoospermia (Ruiz-Pesini 2000). However, these findings have been disputed due to a small sample size in the study (Mishmar 2002).

Famous Members

Nicholas II of Russia

The last Russian Tsar, Nicholas II, has been shown to be of Haplogroup T, specifically subclade T2 (Ivanov 1996). Assuming all relevant pedigrees are correct, this includes all female-line descendants of his female line ancestor Barbara of Celje (1390-1451), wife of Sigismund, Holy Roman Emperor. This includes a great number of European nobles, including George I of Great Britain and Frederick William I of Prussia (through the Electress Sophia of Hanover), Charles I of England, George III of the United Kingdom, George V of the United Kingdom, Charles X Gustav of Sweden, Gustavus Adolphus of Sweden, Maurice of Nassau, Prince of Orange, Olav V of Norway, and George I of Greece. Many European royals have been found to be of this mtDNA Haplogroup, in addition to Haplogroup H (mtDNA).

See also

Genetics

Backbone mtDNA Tree

References

Footnotes

Citations

1. 1 2 Asmahan Bekada; Lara R. Arauna; Tahria Deba; Francesc Calafell; Soraya Benhamamouch; David Comas (September 24, 2015). "Genetic Heterogeneity in Algerian Human Populations". PLoS ONE. 10 (9): e0138453. doi:10.1371/journal.pone.0138453. Retrieved 14 May 2016. ; S5 Table
2. 1 2 Černý, Viktor; et al. (2009). "Out of Arabia—the settlement of island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity" (PDF). American journal of Physical Anthropology. 138 (4): 439–447. Retrieved 13 June 2016. 
3. ↑ Bryan Sykes (2001). The Seven Daughters of Eve. London; New York: Bantam Press. ISBN 0393020185. 
4. ↑ "Maternal Ancestry". Oxford Ancestors. Retrieved 7 February 2013. 
5. ↑ Bennett, Casey and Frederika A. Kaestle (2010) “Investigation of Ancient DNA from Western Siberia and the Sargat Culture.” Human Biology. 82(2): 143-156.
6. ↑ "Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia". Elsevier Inc. 4 May 2012. pp. 915–924. Retrieved 12 September 2016. http://haplogroup.org/sources/mitochondrial-dna-signals-of-late-glacial-recolonization-of-europe-from-near-eastern-refugia/
7. ↑ Wilde et al. 2014. 2Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y". PNAS vol. 111 no. 13 > doi: 10.1073/pnas.1316513111
8. ↑ Ball, Edward (2007). The Genetic Strand: Exploring a Family History Through DNA. Simon and Schuster. p. 233. ISBN 1416554254. Retrieved 31 May 2016. 
9. ↑ Castro, M. "Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy.". PubMed. National Center for Biotecnhical Information. Retrieved 2015-10-03. 
10. ↑ Chen, Michael. "Hypertrophic cardiomyopathy - Medical Encyclopedia". Medline Plus. National Library of Medicine. Retrieved 2015-10-03. 

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• Pichler, Irene; Fuchsberger, Christian; Platzer, Christa; Çalişkan, Minal; Marroni, Fabio; Pramstaller, Peter P; Ober, Carole (2010). "Drawing the history of the Hutterite population on a genetic landscape: Inference from Y-chromosome and mtDNA genotypes". European Journal of Human Genetics. 18 (4): 463–70. doi:10.1038/ejhg.2009.172. PMC 2987252. PMID 19844259. 
• Poloni, Estella S.; Naciri, Yamama; Bucho, Rute; Niba, Régine; Kervaire, Barbara; Excoffier, Laurent; Langaney, André; Sanchez-Mazas, Alicia (2009). "Genetic Evidence for Complexity in Ethnic Differentiation and History in East Africa". Annals of Human Genetics. 73 (6): 582–600. doi:10.1111/j.1469-1809.2009.00541.x. 
• Pope, AM; Carr, SM; Smith, KN; Marshall, HD; Marshall, H. D. (2011). "Mitogenomic and microsatellite variation in descendants of the founder population of Newfoundland: High genetic diversity in an historically isolated population". Genome / National Research Council Canada = Genome / Conseil national de recherches Canada. 54 (2): 110–9. doi:10.1139/G10-102. PMID 21326367. 
• Quintana-Murci, Lluís; Chaix, Raphaëlle; Wells, R. Spencer; Behar, Doron M.; Sayar, Hamid; Scozzari, Rosaria; Rengo, Chiara; Al-Zahery, Nadia; et al. (2004). "Where West Meets East: The Complex mtDNA Landscape of the Southwest and Central Asian Corridor". The American Journal of Human Genetics. 74 (5): 827–45. doi:10.1086/383236. PMC 1181978. PMID 15077202. 
• Richards, Martin; MacAulay, Vincent; Hickey, Eileen; Vega, Emilce; Sykes, Bryan; Guida, Valentina; Rengo, Chiara; Sellitto, Daniele; et al. (2000). "Tracing European Founder Lineages in the Near Eastern mtDNA Pool". The American Journal of Human Genetics. 67 (5): 1251–76. doi:10.1016/S0002-9297(07)62954-1. PMC 1288566. PMID 11032788. 
• Richards, Martin; Rengo, Chiara; Cruciani, Fulvio; Gratrix, Fiona; Wilson, James F.; Scozzari, Rosaria; MacAulay, Vincent; Torroni, Antonio (2003). "Extensive Female-Mediated Gene Flow from Sub-Saharan Africa into Near Eastern Arab Populations". The American Journal of Human Genetics. 72 (4): 1058–64. doi:10.1086/374384. PMC 1180338. PMID 12629598. 
• Rogaev, E. I.; Grigorenko, A. P.; Moliaka, Y. K.; Faskhutdinova, G.; Goltsov, A.; Lahti, A.; Hildebrandt, C.; Kittler, E. L. W.; Morozova, I. (2009). "Genomic identification in the historical case of the Nicholas II royal family". Proceedings of the National Academy of Sciences. 106 (13): 5258–63. doi:10.1073/pnas.0811190106. PMC 2664067. PMID 19251637. 
• Ruiz-Pesini, Eduardo; Lapeña, Ana-Cristina; Díez-Sánchez, Carmen; Pérez-Martos, Acisclo; Montoya, Julio; Alvarez, Enrique; Díaz, Miguel; Urriés, Antonio; et al. (2000). "Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility". The American Journal of Human Genetics. 67 (3): 682–96. doi:10.1086/303040. PMC 1287528. PMID 10936107. 
• Shlush, Liran I.; Behar, Doron M.; Yudkovsky, Guennady; Templeton, Alan; Hadid, Yarin; Basis, Fuad; Hammer, Michael; Itzkovitz, Shalev; Skorecki, Karl (2008). Gemmell, Neil John, ed. "The Druze: A Population Genetic Refugium of the Near East". PLoS ONE. 3 (5): e2105. doi:10.1371/journal.pone.0002105. PMC 2324201. PMID 18461126. 
• Soares, P.; Alshamali, F.; Pereira, J. B.; Fernandes, V.; Silva, N. M.; Afonso, C.; Costa, M. D.; Musilova, E.; et al. (2011). "The Expansion of mtDNA Haplogroup L3 within and out of Africa". Molecular Biology and Evolution. 29 (3): 915–27. doi:10.1093/molbev/msr245. PMID 22096215. 
• Stanger, Olaf; Müller, Edith; Zimmermann, Franz; Wiesbauer, Martina; Mayr, Johannes A.; Paulweber, Bernhard; Iglseder, Bernhard; Renner, Wilfried; et al. (2007). "30 Mitochondrial haplogroup T is associated with coronary artery disease". Mitochondrion. 7 (6): 412. doi:10.1016/j.mito.2007.08.034. 
• Stone, AC; Starrs, JE; Stoneking, M (2001). "Mitochondrial DNA analysis of the presumptive remains of Jesse James". Journal of forensic sciences. 46 (1): 173–6. PMID 11210907. 
• Terreros, Maria C; Rowold, Diane J; Mirabal, Sheyla; Herrera, Rene J (2011). "Mitochondrial DNA and Y-chromosomal stratification in Iran: Relationship between Iran and the Arabian Peninsula". Journal of Human Genetics. 56 (3): 235–46. doi:10.1038/jhg.2010.174. PMID 21326310. 
• Thomas, Mark G; Barnes, Ian; Weale, Michael E; Jones, Abigail L; Forster, Peter; Bradman, Neil; Pramstaller, Peter P (2008). "New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East". European Journal of Human Genetics. 16 (1): 124–34. doi:10.1038/sj.ejhg.5201906. PMID 17712356. 
• Tishkoff, S. A.; Gonder, M. K.; Henn, B. M.; Mortensen, H.; Knight, A.; Gignoux, C.; Fernandopulle, N.; Lema, G.; et al. (2007). "History of Click-Speaking Populations of Africa Inferred from mtDNA and Y Chromosome Genetic Variation". Molecular Biology and Evolution. 24 (10): 2180–95. doi:10.1093/molbev/msm155. PMID 17656633. 
• Topf, A. L.; Gilbert, MT; Dumbacher, JP; Hoelzel, AR (2005). "Tracing the Phylogeography of Human Populations in Britain Based on 4th-11th Century mtDNA Genotypes". Molecular Biology and Evolution. 23 (1): 152–61. doi:10.1093/molbev/msj013. PMID 16151183. 
• Torroni, A; Huoponen, K; Francalacci, P; Petrozzi, M; Morelli, L; Scozzari, R; Obinu, D; Savontaus, ML; Wallace, DC (1996). "Classification of European mtDNAs From an Analysis of Three European Populations". Genetics. 144 (4): 1835–50. PMC 1207732. PMID 8978068. 
• van Oven, Mannis; Kayser, Manfred (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457. 

Websites

• Behar; Family Tree DNA (2012). "mtDNA Community". 

Further reading

• Černý, Viktor; Pereira, Luísa; Kujanová, Martina; VašÍková, Alžběta; Hájek, Martin; Morris, Miranda; Mulligan, Connie J. (2009). "Out of Arabia-The settlement of Island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity". American Journal of Physical Anthropology. 138 (4): 439–47. doi:10.1002/ajpa.20960. PMID 19012329. 
• Kitchen, A.; Ehret, C.; Assefa, S.; Mulligan, C. J. (2009). "Bayesian phylogenetic analysis of Semitic languages identifies an Early Bronze Age origin of Semitic in the Near East". Proceedings of the Royal Society B: Biological Sciences. 276 (1668): 2703–10. doi:10.1098/rspb.2009.0408. PMC 2839953. PMID 19403539. 
• Petit-Maire, Nicole; Bouysse, Philippe (2000). "Geological records of the recent past, a key to the near future world environments" (PDF). Episodes. Geological Society of Indiana. 

External links

• General
  • Ian Logan's Mitochondrial DNA Site
  • Mannis van Oven's Phylotree
  • The Genographic Project Public Participation Mitochondrial DNA Database
• Haplogroup T
  • Discussion List at RootsWeb
  • Spread of Haplogroup T, from National Geographic
  • Genetic Genealogy: A Personal Perspective on Tara, Karelians and Kent, England
  • Analysis of a Haplogroup T sequence (T5/T2)
  • Phylogenetic Networks for the Human mtDNA Haplogroup T
  • mtDNA Haplogroup T - Full Genomic Sequence Research Project
  • Phylogenetic Networks for the Human mtDNA Haplogroup T