Biology:Haplogroup Z

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Short description: Human mitochondrial DNA haplogroup
Haplogroup Z
Possible time of origin21,661.6 [95% CI 13,280.8 <-> 30,042.4] ybp[1]

24,900 [95% CI 15,900 <-> 34,400] ybp[2]

25,300 (95% CI 20,300 <-> 31,200) ybp[3]
Possible place of originCentral Asia
AncestorCZ
Defining mutations152 6752 9090 15784 16185 16260[4]

In human mitochondrial genetics, Haplogroup Z is a human mitochondrial DNA (mtDNA) haplogroup.

Frequency distribution of mtDNA haplogroup Z in Eurasia

Origin

Haplogroup Z is believed to have arisen in Central Asia, and is a descendant of haplogroup CZ.

Distribution

The greatest clade diversity of haplogroup Z is found in East Asia and Central Asia. However, its greatest frequency appears in some peoples of Russia, such as Evens from Kamchatka (8/39 Z1a2a, 3/39 Z1a3, 11/39 = 28.2% Z total) and from Berezovka, Srednekolymsky District, Sakha Republic (3/15 Z1a3, 1/15 Z1a2a, 4/15 = 26.7% Z total), and among the Saami people of northern Fennoscandia. With the exception of three Khakasses who belong to Z4,[5] two Yakut who belong to Z3a1,[5] two Yakut, a Yakutian Evenk, a Buryat, and an Altai Kizhi who belong to Z3(xZ3a, Z3c),[5] and the presence of the Z3c clade among populations of Altai Republic,[5] nearly all members of haplogroup Z in North Asia and Europe belong to subclades of Z1. The TMRCA of Z1 is 20,400 [95% CI 7,400 <-> 34,000] ybp according to Sukernik et al. 2012,[2] 20,400 [95% CI 7,800 <-> 33,800] ybp according to Fedorova et al. 2013,[5] or 19,600 [95% CI 12,500 <-> 29,300] ybp according to YFull.[3] Among the members (Z1, Z2, Z3, Z4, and Z7) of haplogroup Z, Nepalese populations were characterized by rare clades Z3a1a and Z7, of which Z3a1a was the most frequent sub-clade in Newar, with a frequency of 16.5%.[6] Z3, found in East Asia, North Asia, and MSEA, is the oldest member of haplogroup Z with an estimated age of ~ 25.4 Kya.[6] Haplogroup Z3a1a is also detected in other Nepalese populations, such as Magar (5.4%), Tharu, Kathmandu (mixed population) and Nepali-other (mixed population from Kathmandu and Eastern Nepal).[6] S6). Z3a1a1 detected in Tibet, Myanmar, Nepal, India, Thai-Laos and Vietnam trace their ancestral roots to China with a coalescent age of ~ 8.4 Kya[6]

Fedorova et al. 2013 have reported finding Z* (xZ1a, Z3, Z4) in 1/388 Turks and 1/491 Kazakhs. These individuals should belong to Z1* (elsewhere observed in a Tofalar), Z2 (observed in Japanese), Z7 (observed in the Himalaya), Z5 (observed in Japanese), or basal Z* (observed in a Blang individual in Northern Thailand).[5]

Subclades

Tree

This phylogenetic tree of haplogroup Z subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[4] and subsequent published research.

  • Z
    • Z* – Thailand (Blang in Chiang Rai Province)[7]
    • Z-T152C! (TMRCA 24,300 [95% CI 19,300 <-> 30,300] ybp[3])
      • Z-T152C!* – Hong Kong
      • Z1 (TMRCA 18,600 [95% CI 10,900 <-> 29,500] ybp[3])
        • Z1a – Koryak, Buryat, Kalmyk, Mongol (Hinggan, Hulunbuir, Xilingol[8]), Khakas, Shor, Altai Kizhi, Kazakh, Kyrgyz, Uyghur, Turk, Arab (Uzbekistan) (TMRCA 7,600 [95% CI 5,100 <-> 10,900] ybp[3])
          • Z1a1 – Italy, Hungary (ancient Avar), Germany, Sweden, Kazakh, Uyghur, Buryat (TMRCA 5,600 [95% CI 2,500 <-> 10,900] ybp[3])
            • Z1a1a – Khakas,[5] Nogai,[5] Udmurt,[5] Russia (Krasnodar Krai,[5] etc.), Abazin,[5] Cherkessian,[5] Finland, Norway, Sweden,[5] Estonia, Ukrainian[5]
              • Z1a1a* – Norway (Vest-Agder, Aust-Agder),[3] Finland,[3][5] Sami (Västerbotten,[9] Norrbotten[9]), Komi,[5] Russia (Chelyabinsk Oblast),[9] Ket (lower Yenisey River basin)[2]
              • Z1a1a1 – Russia (Chelyabinsk Oblast[9])
              • Z1a1a2 – Udmurt[5]
              • Z1a1a3 – Russia (Chelyabinsk Oblast,[9] Novgorod Oblast[10]), Poland[3]
              • Z1a1a4 – Finland (Eastern Finland Province), Estonia (Rapla County)[3]
            • Z1a1b – Evenk (Sakha Republic),[5] Dolgan[5]
              • Z1a1b* – Nganasan (Taimyr Peninsula),[2] Yukaghir (lower Indigirka River basin[2]), Even (Sakkyryyr,[11] Eveno-Bytantaysky National district or Momsky district of Sakha Republic[5]), Evenk (Iengra River basin,[11] Nyukzha river basin[11])
              • Z1a1b1
                • Z1a1b1a – Uyghur
          • Z1a2 (TMRCA 5,400 [95% CI 2,400 <-> 10,400] ybp[3])
            • Z1a2* – Ulchi (lower Amur River basin)[2]
            • Z1a2a – Itelmen,[5] Koryak[5]
              • Z1a2a* – Even (Kamchatka),[11] Yukaghir (upper Anadyr River basin)[2]
              • Z1a2a1
                • Z1a2a1* – Even (Kamchatka,[11] Berezovka[11])
                • Z1a2a1a – Even (Kamchatka),[11] Evenk (village of Nelkan by the Maya River in the Okhotsk Region)[5][2]
          • Z1a3 (TMRCA 3,600 [95% CI 1,850 <-> 6,500] ybp[3])
            • Z1a3* – Yukaghir (upper Anadyr River basin),[2] Even (Tompo District,[11] Eveno-Bytantaysky National district or Momsky district of Sakha Republic[5]), Evenk (Nyukzha River basin[11]), Yakut (central Yakutia)[11]
            • Z1a3a
              • Z1a3a* – Even (Kamchatka)[11]
              • Z1a3a1 – Yukaghir[11] (lower Kolyma River basin[2]), Even (Berezovka[11])
            • Z1a3b – Even (Berezovka[11]), Yakut
          • Z1a4 (TMRCA 5,500 [95% CI 3,200 <-> 9,000] ybp[3])
            • Z1a4* – Uyghur,[3] Tubalar,[2] Buryat (Irkutsk Oblast) ****** Z1a4a – Uyghur[3]
        • Z1b – Tofalar[12]
          • Z1b1 (G251A) - Tofalar (Karagas) from Alygdzher, Barghut
      • Z2 – Japan (Tokyo, Aichi, Chūbu-Hokuriku,[13] Tōhoku,[13] etc.) (TMRCA 3,900 [95% CI 1,450 <-> 8,400] ybp[3])
      • Z3 – China (Shanghai,[3] Dengba, Xinjiang Uyghur, etc.), Singapore, Malaysia, Thailand (Lao Isan in Chaiyaphum Province[7]), Vietnam, Uyghur, Evenk (Sakha Republic), Mongol (Hohhot, Tongliao, Chaoyang, Chifeng, Jiangsu[8]), Buryat, Kalmyk, Altai Kizhi, Kyrgyz, Kazakh, Tajik, Azerbaijan, North Ossetian, Romania, USA (TMRCA 15,836 [SD 4,397] ybp[1])
        • Z3a – China (Mongol,[8] Xibo, Deng, etc.), Kazakh[5] (TMRCA 12,900 [95% CI 9,000 <-> 18,000] ybp[3])
          • Z3a1
            • Z3a1a
              • Z3a1a - Nepal (Newar, Magar, Tharu, Eastern Nepal, Kathmandu)[6]
              • Z3a1a* – Lachungpa,[14] Lepcha[14]
              • Z3a1a1 – China[3]
              • Z3a1a2 – Gallong,[14] Dirang Monpa,[14] Thailand (Khon Mueang in Mae Hong Son Province[7]), Vietnam (Hà Nhì)
            • Z3a1b – Yakut[5][15][3]
          • Z3a2 – Lachungpa[14][3]
          • Z3a3 – Thailand (Palaung in Chiang Mai Province, Lawa in Mae Hong Son Province)[7][3]
        • Z3b – Deng, Gallong[14] (TMRCA 8,400 [95% CI 2,300 <-> 21,500] ybp[3])
        • Z3-G709A – Yakut,[5] China (Han from Henan[3])
          • Z3c – Altaian,[5] Altai Kizhi,[5] Iran, China (Kyrgyz from Tashkurgan,[16] Mongol from Tongliao,[8] etc.[3]), Cambodia (Siem Reap),[3] Vietnam, Japan[17]
          • Z3d – China[17] (Han, Daur, Mongol from Hulunbuir, etc.), Taiwan (Minnan, etc.), Singapore,[3] Korea,[17] Japan (Chūbu-Hokuriku,[13] Tōhoku[13]), Mongolia,[17] Kyrgyzstan[3]
        • Z3+G11696A – China,[3] Korea[3]
          • Z3+G11696A+C16380T - China[3]
          • Z3+G11696A+T454C - China[3]
        • Z3+T8227C – China[3]
          • Z3+T8227C+A13629G - China[3]
          • Z3+T8227C+T4363C - Korea[3]
            • Z3+T8227C+T4363C+A12996G - China (HGDP She people)[3]
              • Z3+T8227C+T4363C+A12996G+T773C - Pakistan (HGDP Hazara)[3]
        • Z3g (Z3+G7337A) - Japan,[17][3] Kazakhstan (Jetisuu)[3]
        • Z3+A13105G! - China (Barghut from Inner Mongolia)[3]
          • Z3+A13105G!+A13434G - China (Han from Henan, etc.[3])
      • Z4 – China (Suzhou, Mongol in Shandong,[8] etc.), Thailand (Phuan in Suphan Buri Province[7]), Philippines, Uzbekistan, Kazakhstan,[3] Kalmyk,[5] Khakas,[5] Karanogai[5] (TMRCA 14,900 [95% CI 9,200 <-> 22,800] ybp[3])
        • Z4a – China (Han from Hunan and Denver, Mongol[8] from Inner Mongolia, Liaoning, Heilongjiang, Hebei, Henan, Shandong, etc.), Uyghur, Daur, Japan (Tokyo)
          • Z4a1 – China (Han from Wuhan, Mongol from Baotou and Xilingol[8])
            • Z4a1a – China (Han from Hunan and Yunnan), Vietnam
              • Z4a1a1 – Japan (Tokyo, etc.), South Korea
      • Z7 – Dirang Monpa,[14] Tibet (Tingri, Shannan[18]) (TMRCA 1,750 [95% CI 275 <-> 6,200] ybp[3]), Nepal (Newar)[6]
      • Z8* – Nepal (Newar)[6]
    • Z5 – Japan (Aichi)

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. ↑ 1.0 1.1 Behar, Doron M.; Van Oven, Mannis; Rosset, Saharon; Metspalu, Mait; Loogväli, Eva-Liis; Silva, Nuno M.; Kivisild, Toomas; Torroni, Antonio et al. (2012). "A "Copernican" Reassessment of the Human Mitochondrial DNA Tree from its Root". The American Journal of Human Genetics 90 (4): 675–684. doi:10.1016/j.ajhg.2012.03.002. PMID 22482806. 
  2. ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 Sukernik, Rem I.; Volodko, Natalia V.; Mazunin, Ilya O.; Eltsov, Nikolai P.; Dryomov, Stanislav V.; Starikovskaya, Elena B. (2012). "Mitochondrial genome diversity in the tubalar, even, and ulchi: Contribution to prehistory of native siberians and their affinities to native americans". American Journal of Physical Anthropology 148 (1): 123–138. doi:10.1002/ajpa.22050. PMID 22487888. 
  3. ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 3.12 3.13 3.14 3.15 3.16 3.17 3.18 3.19 3.20 3.21 3.22 3.23 3.24 3.25 3.26 3.27 3.28 3.29 3.30 3.31 3.32 3.33 3.34 3.35 3.36 3.37 3.38 3.39 3.40 3.41 3.42 3.43 3.44 YFull MTree 1.01.5396 as of April 4, 2019.
  4. ↑ 4.0 4.1 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. 
  5. ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 5.11 5.12 5.13 5.14 5.15 5.16 5.17 5.18 5.19 5.20 5.21 5.22 5.23 5.24 5.25 5.26 5.27 5.28 5.29 5.30 5.31 Fedorova, Sardana A.; Reidla, Maere; Metspalu, Ene; Metspalu, Mait; Rootsi, Siiri; Tambets, Kristiina; Trofimova, Natalya; Zhadanov, Sergey I. et al. (2013). "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): Implications for the peopling of Northeast Eurasia". BMC Evolutionary Biology 13. doi:10.1186/1471-2148-13-127. PMID 23782551. 
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 6.6 Basnet, Rajdip; Rai, Niraj; Tamang, Rakesh; Awasthi, Nagendra Prasad; Pradhan, Isha; Parajuli, Pawan; Kashyap, Deepak; Reddy, Alla Govardhan et al. (2022-10-15). "The matrilineal ancestry of Nepali populations" (in en). Human Genetics 142 (2): 167–180. doi:10.1007/s00439-022-02488-z. ISSN 0340-6717. PMID 36242641. https://link.springer.com/10.1007/s00439-022-02488-z. 
  7. ↑ 7.0 7.1 7.2 7.3 7.4 Kutanan, Wibhu; Kampuansai, Jatupol; Srikummool, Metawee; Kangwanpong, Daoroong; Ghirotto, Silvia; Brunelli, Andrea; Stoneking, Mark (2017). "Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai–Kadai languages". Human Genetics 136 (1): 85–98. doi:10.1007/s00439-016-1742-y. PMID 27837350. 
  8. ↑ 8.0 8.1 8.2 8.3 8.4 8.5 8.6 Guang‐Lin He, Meng‐Ge Wang, Xing Zou, Hui‐Yuan Yeh, Chang‐Hui Liu, Chao Liu, Gang Chen, and Chuan‐Chao Wang. Extensive ethnolinguistic diversity at the crossroads of North China and South Siberia reflects multiple sources of genetic diversity[J]. J Syst Evol, 2023, 61(1): 230-250.
  9. ↑ 9.0 9.1 9.2 9.3 9.4 Max Ingman; Ulf Gyllensten (2007). "A recent genetic link between Sami and the Volga-Ural region of Russia". European Journal of Human Genetics 15 (1): 115–120. doi:10.1038/sj.ejhg.5201712. PMID 16985502. https://www.nature.com/ejhg/journal/v15/n1/pdf/5201712a.pdf. 
  10. ↑ Malyarchuk,B., Litvinov,A., Derenko,M., Skonieczna,K., Grzybowski,T., Grosheva,A., Shneider,Y., Rychkov,S. and Zhukova,O., "Mitogenomic diversity in Russians and Poles." Forensic Sci Int Genet 30, 51-56 (2017).
  11. ↑ 11.00 11.01 11.02 11.03 11.04 11.05 11.06 11.07 11.08 11.09 11.10 11.11 11.12 11.13 Duggan, Ana T.; Whitten, Mark; Wiebe, Victor; Crawford, Michael; Butthof, Anne; Spitsyn, Victor; Makarov, Sergey; Novgorodov, Innokentiy et al. (2013). "Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers". PLOS ONE 8 (12). doi:10.1371/journal.pone.0083570. PMID 24349531. 
  12. ↑ Starikovskaya, Elena B.; Sukernik, Rem I.; Derbeneva, Olga A.; Volodko, Natalia V.; Ruiz-Pesini, Eduardo; Torroni, Antonio; Brown, Michael D.; Lott, Marie T. et al. (2005). "Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups". Annals of Human Genetics 69: 67–89. doi:10.1046/j.1529-8817.2003.00127.x. PMID 15638829. 
  13. ↑ 13.0 13.1 13.2 13.3 Yamamoto, Kenichi; Sakaue, Saori; Matsuda, Koichi; Murakami, Yoshinori; Kamatani, Yoichiro; Ozono, Keiichi; Momozawa, Yukihide; Okada, Yukinori (2020). "Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population". Communications Biology 3 (1). doi:10.1038/s42003-020-0812-9. PMID 32139841. 
  14. ↑ 14.0 14.1 14.2 14.3 14.4 14.5 14.6 14.7 Chandrasekar, Adimoolam; Kumar, Satish; Sreenath, Jwalapuram; Sarkar, Bishwa Nath; Urade, Bhaskar Pralhad; Mallick, Sujit; Bandopadhyay, Syam Sundar; Barua, Pinuma et al. (2009). "Updating Phylogeny of Mitochondrial DNA Macrohaplogroup M in India: Dispersal of Modern Human in South Asian Corridor". PLOS ONE 4 (10). doi:10.1371/journal.pone.0007447. PMID 19823670. 
  15. ↑ Sebastian Lippold (2014). "Human paternal and maternal demographic histories: Insights from high-resolution Y chromosome and mtDNA sequences". Investigative Genetics 5. doi:10.1186/2041-2223-5-13. PMID 25254093. 
  16. ↑ Peng, Min-Sheng; Xu, Weifang; Song, Jiao-Jiao; Chen, Xing; Sulaiman, Xierzhatijiang; Cai, Liuhong; Liu, He-Qun; Wu, Shi-Fang et al. (2018). "Mitochondrial genomes uncover the maternal history of the Pamir populations". European Journal of Human Genetics 26: 124–136. doi:10.1038/s41431-017-0028-8. 
  17. ↑ 17.0 17.1 17.2 17.3 17.4 Haplotree for mitochondrial DNA haplogroup Z at FamilyTreeDNA Discover
  18. ↑ Ji, FuyunExpression error: Unrecognized word "etal". (2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". PNAS 109 (19): 7391–7396. doi:10.1073/pnas.1202484109. PMID 22517755. Bibcode: 2012PNAS..109.7391J. 



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