Biology:Haplogroup R0 (mtDNA)

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Short description: Human mitochondrial DNA haplogroup
Haplogroup R0
Possible time of origin23,600 to 54,900 YBP[1]
Possible place of originMiddle East
AncestorR
DescendantsR0a, HV
Defining mutations73, 11719[2]

Haplogroup R0 (formerly known as haplogroup pre-HV[3]) is a human mitochondrial DNA (mtDNA) haplogroup.

Origin

Haplogroup R0 derives from the macro-haplogroup R. It is an ancestral clade to the R0a subclade and haplogroup HV, and is therefore antecedent to the haplogroups H and V.

R0's greater subclade variety in the Arabian Peninsula suggests that the clade originated in and spread from there.

R0a is believed to have evolved in Ice Age oases in South Arabia around 22,000 years ago. The subclade would then have spread from there with the onset of the Late Glacial period circa 15,000 ybp.[4]

Distribution

Haplogroup R0 has been found in around 55% of osteological remains belonging to the Eneolithic Trypillia culture.[5]

The R0 clade has also been found among Iberomaurusian specimens at the Taforalt and Afalou prehistoric sites, which date from the Epipaleolithic. Among the Taforalt individuals, around 17% of the observed haplotypes belonged to various R0 subclades, including R0a1a (3/24; 13%) and R0a2c (1/24; 4%). Among the Afalou individuals, one R0a1a haplotype was detected (1/9; 11%).[6]

R0 has likewise been observed among mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from the Pre-Ptolemaic/late New Kingdom, Ptolemaic, and Roman periods.[7]

The 3rd century AD Catholic Church Saint, Fortunato of Serracapriola, was also found to carry the R0a'b subclade.[citation needed]

R0 today occurs commonly in the Arabian peninsula, with its highest frequency observed nearby among the Soqotri (40.7%).[8] The Soqotri also have the greatest R0 subclade diversity.[9] The clade is likewise found at high frequencies among the Kalash in South Asia (23%).[10] Additionally, moderate frequencies of R0 occur in Northeast Africa, Anatolia, the Iranian Plateau and Dalmatia. The haplogroup has been observed among Chad Arabs (19%),[11] Sudanese Copts (13.8%),[12] Tigrais (13.6%),[8] Somalis (13.3%),[8] Oromos (13.3%),[8] Afar (12.5%),[8] Amhara (11.5%),[8] Gurage (10%),[8] Reguibate Sahrawi (9.26%; 0.93% R0a and 8.33% R0a1a),[13] Gaalien (9%),[12] Beja (8.3%),[12] Nubians (8%),[8] Arakien (5.9%),[12] Yemenis (5.1–27.7%),[8] Iraqis (4.8%),[8] Druze (4.3%),[8] Palestinians (4%),[8] Algerians (1.67%),[13] and Saudis (0–25%).[8]

Subclades

Tree

Phylogenetic tree of haplogroup R0 subclades
Projected spatial frequency distribution of haplogroup R0a. Most common in the Arabian peninsula, with a peak in nearby Socotra (~40%; see observed frequencies above)

This phylogenetic tree of haplogroup R0 subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[2] and subsequent published research.

  • R
    • R0 (or pre-HV)
      • R0a'b – Albania
        • R0a (or (pre-HV)1)
          • R0a1 or (pre-HV)1a
            • R0a1a – Saudi Arabia, Yemen, Qatar, Bahrain, Kuwait, Lebanon, Italy
              • R0a1a1 – Yemen,[14] Tunisia[15]
                • R0a1a1a – Yemen (Socotra)[14]
              • R0a1a2 – Ethiopia[16]
              • R0a1a3
              • R0a1a4 – Saudi Arabia, Qatar, Kuwait, Iraq
            • R0a1-T152C! – Morocco, Spain
              • R0a1b – Arabia[4]
          • R0a-60.1T – Italy, Armenians of Turkey,[17] Kalash of Pakistan[18]
            • R0a2'3 – Iran, Lebanon
              • R0a2 or (pre-HV)1b
                • R0a2a – Portugal, Spain, Italy
                  • R0a2a1 – Italy, Algeria
                • R0a2b – Ethiopia[4]
                • R0a2c – Saudi Arabia,[19] Qatar, Kuwait, Yemenite Jews[4]
                • R0a2d
                • R0a2e
                • R0a2f – Arabs from Chad,[14] United Arab Emirates,[20] Saudi Arabia
                  • R0a2f1
                    • R0a2f1a – Oman, Saudi Arabia, Yemen
                    • R0a2f1b – Yemen, United Arab Emirates
                • R0a2g
                  • R0a2g1
                    • R0a2g1a
                    • R0a2g1a1 – Saho of Eritrea,[21] Amhara of Ethiopia[22]
                • R0a2h – United Arab Emirates[23]
                  • R0a2h1 – Afar of Eritrea[24]
                • R0a2i – Yemen[25]
                • R0a2-T195C! – Saudi Arabia
                  • R0a2j – Yemen,[26] Oman, United Arab Emirates
                • R0a2k – Sardinia[27]
                  • R0a2k1 – Saudi Arabia, Yemen
                • R0a2l – Yemen[28]
                • R0a2m – Ashkenazi Jews,[29] Xueta of Spain,[30] Gitanos of Spain,[31] Mexico,[32] Ecuador[33] Morocco[34]
                • R0a2n – Druze of Lebanon,[35] Assyrians,[36] Italy, Balti of Pakistan[37]
                • R0a2q – Oromo of Kenya,[38] Saho of Eritrea[39]
                • R0a2r – Southern Europe (Romania, Bulgaria),[4] Druze[4]
              • R0a3 – Yemen,[40] Persians[41]
            • R0a4 – Spain, Portugal, Ashkenazi Jews,[44] Iraq[4]
        • R0b – Italy,[45] Azerbaijan[46]
      • HV
        • HV0
          • HV0a
        • H

See also

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1–6  
L1 L2   L3     L4 L5 L6
M N  
CZ D E G Q   O A S R   I W X Y
C Z B F R0   pre-JT   P   U
HV JT K
H V J T

References

  1. Soares, P; Ermini, L; Thomson, N; Mormina, M; Rito, T; Röhl, A; Salas, A; Oppenheimer, S et al. (2009). "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". American Journal of Human Genetics 84 (6): 740–59. doi:10.1016/j.ajhg.2009.05.001. PMID 19500773. 
  2. 2.0 2.1 van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. 
  3. Haplogroup H Sub-clades, Family Tree DNA
  4. 4.0 4.1 4.2 4.3 4.4 4.5 4.6 Francesca Gandini; Alessandro Achilli; Maria Pala; Martin Bodner; Stefania Brandini; Gabriela Huber; Balazs Egyed; Luca Ferretti et al. (5 May 2016). "Mapping human dispersals into the Horn of Africa from Arabian Ice Age refugia using mitogenomes". Scientific Reports 6: 25472. doi:10.1038/srep25472. PMID 27146119. Bibcode2016NatSR...625472G. 
  5. Nikitin, Alexey G.; Sokhatsky, Mykhailo P.; Kovaliukh, Mykola M.; Videiko, Mykhailo Y. (14 April 2011). "Comprehensive Site Chronology and Ancient Mitochondrial DNA Analysis from Verteba Cave – a Trypillian Culture Site of Eneolithic Ukraine". Interdisciplinaria Archaeologica – Natural Sciences in Archaeology (Archaeological Centre Olomouc, Government Funded Organisation) (1–2): 9–18. doi:10.24916/iansa.2011.1.1. http://iansa.eu/papers/IANSA-2010-01-02-nikitin.pdf. Retrieved 14 May 2013. 
  6. Kefi, Rym (2018). "On the origin of Iberomaurusians: new data based on ancient mitochondrial DNA and phylogenetic analysis of Afalou and Taforalt populations". Mitochondrial DNA Part A 29 (1): 147–157. doi:10.1080/24701394.2016.1258406. PMID 28034339. 
  7. Schuenemann, Verena J. (2017). "Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods". Nature Communications 8: 15694. doi:10.1038/ncomms15694. PMID 28556824. Bibcode2017NatCo...815694S. 
  8. 8.00 8.01 8.02 8.03 8.04 8.05 8.06 8.07 8.08 8.09 8.10 8.11 8.12 Non, Amy (2010). Analyses of Genetic Data Within An Interdisciplinary Framework to Investigate Recent Human Evolutionary History and Complex Disease (PDF) (PhD dissertation). University of Florida. Retrieved 6 April 2023.
  9. Černý, Viktor (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): 439–447. doi:10.1002/ajpa.20960. PMID 19012329. http://ychrom.invint.net/upload/iblock/f30/Cerny%202009%20Out%20of%20ArabiarusThe%20Settlement%20of%20Island%20Soqotra%20as%20Revealed%20by%20Mitochondrial%20and%20Y.pdf. Retrieved 12 June 2016. 
  10. Quintana-Murci, Lluís (2004). "Where West Meets East: The Complex mtDNA Landscape of the Southwest and Central Asian Corridor.". American Journal of Human Genetics 74 (5): 827–45. doi:10.1086/383236. PMID 15077202. PMC 1181978. http://www.familytreedna.com/pdf/AJHG2004.pdf. Retrieved 2009-08-23. 
  11. Cerezo, María (2011). "New insights into the Lake Chad Basin population structure revealed by high-throughput genotyping of mitochondrial DNA coding SNPs". PLOS ONE 6 (4): e18682. doi:10.1371/journal.pone.0018682. PMID 21533064. Bibcode2011PLoSO...618682C. 
  12. 12.0 12.1 12.2 12.3 Mohamed, Hisham Yousif Hassan. "Genetic Patterns of Y-chromosome and Mitochondrial DNA Variation, with Implications to the Peopling of the Sudan". University of Khartoum. http://khartoumspace.uofk.edu/bitstream/handle/123456789/6376/Genetic%20Patterns%20of%20Y-chromosome%20and%20Mitochondrial.pdf?sequence=1. 
  13. 13.0 13.1 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. PMID 26402429. Bibcode2015PLoSO..1038453B. ; S5 Table
  14. 14.0 14.1 14.2 Viktor ČernýExpression error: Unrecognized word "etal". (January 2011). "Internal diversification of mitochondrial haplogroup R0a reveals post-last glacial maximum demographic expansions in South Arabia". Molecular Biology and Evolution 28. doi:10.1093/molbev/msq178. 
  15. Template:GenBank
  16. Template:GenBank
  17. Template:GenBank
  18. Muhammad Hassan Siddiqi; Allah Rakha; Khushbukhat Khan; Tanveer Akhtar (2021). "Current pool of ultimate collection of mitochondrial DNA from remnants of Kalash". Mitochondrial DNA Part B 6 (8): 2412 (Table 1). doi:10.1080/23802359.2021.1952119. 
  19. Template:GenBank
  20. Fatma A. AljasmiExpression error: Unrecognized word "etal". (August 2020). "Genomic Landscape of the Mitochondrial Genome in the United Arab Emirates Native Population". Genes 11 (8). doi:10.3390/genes11080876. 
  21. Template:GenBank
  22. Template:GenBank
  23. Fatma A. AljasmiExpression error: Unrecognized word "etal". (August 2020). "Genomic Landscape of the Mitochondrial Genome in the United Arab Emirates Native Population". Genes 11 (8). doi:10.3390/genes11080876. 
  24. Template:GenBank
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  27. Template:GenBank
  28. Template:GenBank
  29. Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. p. 86. ISBN 978-1644699843. 
  30. Joana F. Ferragut; Cristian Ramon; Jose A. Castro; António Amorim; L. Alvarez; A. Picornell (8 December 2020). "Middle Eastern genetic legacy in the paternal and maternal gene pools of Chuetas". Scientific Reports 10. doi:10.1038/s41598-020-78487-9. 
  31. Template:GenBank
  32. Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. p. 87. ISBN 978-1644699843. 
  33. Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. pp. 86-87. ISBN 978-1644699843. 
  34. Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. p. 87. ISBN 978-1644699843. 
  35. Template:GenBank
  36. Template:GenBank
  37. Khushbukhat KhanExpression error: Unrecognized word "etal". (February 2020). "Mitochondrial DNA control region variants analysis in Balti population of Gilgit-Baltistan, Pakistan". Meta Gene 23. doi:10.1016/j.mgene.2019.100630. 
  38. Template:GenBank
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  44. Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. pp. 88-89. ISBN 978-1644699843. 
  45. Template:GenBank
  46. Template:GenBank

External links