Haplogroup Z

Haplogroup Z
Haplogroup Z
Possible time of origin	21,661.6 [95% CI 13,280.8 <-> 30,042.4] ybp; ; 24,900 [95% CI 15,900 <-> 34,400] ybp; ; 25,300 (95% CI 20,300 <-> 31,200) ybp
Possible place of origin	Central Asia
Ancestor	CZ
Defining mutations	152 6752 9090 15784 16185 16260

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

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 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]

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
        Z1a1b1* – Buryat (Irkutsk Oblast)^{[citation needed]}
        
        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)^{[citation needed]}
        
        Z1a4a – Uyghur^[3]
    - Z1b – Tofalar^[12]
      - Z1b1 (G251A) - Tofalar (Karagas) from Alygdzher, Barghut
  - Z2 – Japan (Tokyo, Aichi, 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,^[13] Lepcha^[13]
        
        Z3a1a1 – China^[3]
        
        Z3a1a2 – Gallong,^[13] Dirang Monpa,^[13] Thailand (Khon Mueang in Mae Hong Son Province^[7]), Vietnam (Hà Nhì)
        
        Z3a1b – Yakut^[5]^[14]^[3]
      - Z3a2 – Lachungpa^[13]^[3]
        Z3a2a – Lachungpa^[13]^[3]
      - Z3a3 – Thailand (Palaung in Chiang Mai Province, Lawa in Mae Hong Son Province)^[7]^[3]
    - Z3b – Deng,^{[citation needed]} Gallong^[13] (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,^[15] Mongol from Tongliao,^[8] etc.^[3]), Cambodia (Siem Reap),^[3] Vietnam
      - Z3d – China (Han from Beijing, etc.), Taiwan (Minnan, etc.), Mongol (Inner Mongolia), Korea
    - 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]
    - Z3+G7337A - Japan (Tokyo),^[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,^[13] Tibet (Tingri,^{[citation needed]} Shannan^[16]) (TMRCA 1,750 [95% CI 275 <-> 6,200] ybp^[3]), Nepal (Newar)^[6]
  - Z8* – Nepal (Newar)^[6]
- Z5 – Japan (Aichi)

References

^ ^a ^b 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.
^ ^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
^ ^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 ^ak ^al ^am ^an ^ao ^ap ^aq YFull MTree 1.01.5396 as of April 4, 2019.
^ ^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.
^ ^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. http://www.biomedcentral.com/1471-2148/13/127
^ ^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.
^ ^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.
^ ^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.
^ ^a ^b ^c ^d ^e Max Ingman; Ulf Gyllensten (2007). "A recent genetic link between Sami and the Volga-Ural region of Russia" (PDF). European Journal of Human Genetics. 15 (1): 115–120. doi:10.1038/sj.ejhg.5201712. PMID 16985502. S2CID 21483916.
^ 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).
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ Duggan AT, Whitten M, Wiebe V, Crawford M, Butthof A, 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): e83570. doi:10.1371/journal.pone.0083570
^ 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
^ ^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
^ Sebastian Lippold; et al. (2014). "Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences". bioRxiv 10.1101/001792.
^ 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 https://doi.org/10.1038/s41431-017-0028-8
^ 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.

External links

General
- Mannis van Oven's Phylotree
Haplogroup Z
- Ian Logan's Mitochondrial DNA Site: Haplogroup Z
- Ian Logan's Mitochondrial DNA Site: Haplogroup Z2
- Ian Logan's Mitochondrial DNA Site: Haplogroup Z3
- Ian Logan's Mitochondrial DNA Site: Haplogroup Z4
- Ian Logan's Mitochondrial DNA Site: Haplogroup Z7
- YFull MTree's Haplogroup Z
- MITOMAP's Haplogroup Z
- FamilyTreeDNA's mtDNA Haplotree: Haplogroup Z
- Spread of Haplogroup Z, from National Geographic

[Behar2012-1] 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.

[Sukernik2012-2] ^ ^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

[YFull-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 ^ak ^al ^am ^an ^ao ^ap ^aq YFull MTree 1.01.5396 as of April 4, 2019.

[vanOven-4] 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.

[Fedorova2013-5] ^ ^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. http://www.biomedcentral.com/1471-2148/13/127

[:0-6] ^ ^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.

[Kutanan2016-7] 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.

[He2023-8] ^ ^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.

[Ingman2007-9] Max Ingman; Ulf Gyllensten (2007). "A recent genetic link between Sami and the Volga-Ural region of Russia" (PDF). European Journal of Human Genetics. 15 (1): 115–120. doi:10.1038/sj.ejhg.5201712. PMID 16985502. S2CID 21483916.

[Malyarchuk2017-10] 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).

[Duggan2013-11] ^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ Duggan AT, Whitten M, Wiebe V, Crawford M, Butthof A, 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): e83570. doi:10.1371/journal.pone.0083570

[Starikovskaya2005-12] 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

[Chandrasekar2009-13] ^ ^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

[Lippold2014-14] Sebastian Lippold; et al. (2014). "Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences". bioRxiv 10.1101/001792.

[Peng2017-15] 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 https://doi.org/10.1038/s41431-017-0028-8

[Ji2012-16] 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.

[1]