In human mitochondrial genetics, Haplogroup Z is a human mitochondrial DNA (mtDNA) 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
Defining mutations152 6752 9090 15784 16185 16260[4]
Frequency distribution of mtDNA haplogroup Z in Eurasia



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



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 Scandinavia. 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]





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.

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


  1. ^ Doron M. Behar, Mannis van Oven, Saharon Rosset, Mait Metspalu, Eva-Liis Loogväli, Nuno M. Silva, Toomas Kivisild, Antonio Torroni, and Richard Villems (2012). "A ‘‘Copernican’’ Reassessment of the Human Mitochondrial DNA Tree from its Root." The American Journal of Human Genetics 90, 675–684 (April 6, 2012). DOI 10.1016/j.ajhg.2012.03.002.
  2. ^ a b c d e f g h i j k Rem I. Sukernik, Natalia V. Volodko, Ilya O. Mazunin, Nikolai P. Eltsov, Stanislav V. Dryomov, and Elena B. Starikovskaya, "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 148:123–138 (2012). DOI 10.1002/ajpa.22050
  3. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj YFull MTree 1.01.5396 as of April 4, 2019.
  4. ^ a b 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. S2CID 27566749.
  5. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af Sardana A Fedorova, Maere Reidla, Ene Metspalu, et al., "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia." BMC Evolutionary Biology 2013, 13:127.
  6. ^ a b c d e f g Basnet, Rajdip; Rai, Niraj; Tamang, Rakesh; Awasthi, Nagendra Prasad; Pradhan, Isha; Parajuli, Pawan; Kashyap, Deepak; Reddy, Alla Govardhan; Chaubey, Gyaneshwer; Das Manandhar, Krishna; Shrestha, Tilak Ram; Thangaraj, Kumarasamy (2022-10-15). "The matrilineal ancestry of Nepali populations". Human Genetics. 142 (2): 167–180. doi:10.1007/s00439-022-02488-z. ISSN 0340-6717. PMID 36242641. S2CID 252904281.
  7. ^ a b c d e Wibhu Kutanan, Jatupol Kampuansai, Metawee Srikummool, Daoroong Kangwanpong, Silvia Ghirotto, Andrea Brunelli, and Mark Stoneking, "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." Hum Genet 2016 DOI 10.1007/s00439-016-1742-y.
  8. ^ a b c d e f g 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.
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  12. ^ Elena B. Starikovskaya, Rem I. Sukernik, Olga A. Derbeneva, Natalia V. Volodko, Eduardo Ruiz-Pesini, Antonio Torroni, Michael D. Brown, Marie T. Lott, Seyed H. Hosseini, Kirsi Huoponen, and Douglas C. Wallace, "Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups." Annals of Human Genetics (2005) 69, 67–89. doi: 10.1046/j.1529-8817.2003.00127.x
  13. ^ a b c d e f g h Chandrasekar A, Kumar S, Sreenath J, Sarkar BN, Urade BP, et al. (2009), "Updating Phylogeny of Mitochondrial DNA Macrohaplogroup M in India: Dispersal of Modern Human in South Asian Corridor. PLoS ONE 4(10): e7447. doi:10.1371/journal.pone.0007447
  14. ^ Sebastian Lippold; et al. (2014). "Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences". bioRxiv 10.1101/001792.
  15. ^ Min-Sheng Peng, Weifang Xu, Jiao-Jiao Song, et al. (2017), "Mitochondrial genomes uncover the maternal history of the Pamir populations." European Journal of Human Genetics
  16. ^ Ji, Fuyun; Sharpley, Mark S.; Derbeneva, Olga; et al. (2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". PNAS. 109 (19): 7391–7396. Bibcode:2012PNAS..109.7391J. doi:10.1073/pnas.1202484109. PMC 3358837. PMID 22517755.