mtDNA Haplogroup A by Kevin Alan Brook

I created and wrote the entry for mtDNA haplogroup A at the French Wikipedia on August 11, 2024. Below, I'm providing an English version of what I wrote.


Distribution in Asia and the Americas

A 2022 study stated that "Haplogroup A is one of the founding haplogroups for Asia and the Americas."Askapuli et al. 2022  Haplogroup A is commonly found in regions in northeastern Asia, and in addition it is found among the Kets of central Asia, the Mansi of northwestern Siberia, the Buryats and Khalkhas, the Tajiks of central Asia, the Han of China, and the Japanese, among other populations.Brook 2022 pages 16-17  Some examples are haplogroups A6, A11a, and A11b in Tibet and haplogroups A8, A8a1, and A10 among the Uyghurs of China and the Buryats.Ian Logan's A6-11 page  Haplogroup A is also occasionally encountered in Southeast Asia, an example being haplogroup A17's presence in Thailand and Vietnam.Ian Logan's A17 page

Haplogroup A2, which is defined by the mutations T146C!, C152T!!, A153G, G8027A, G12007A, and C16111T, is commonly encountered among the indigenous peoples of the Americas.Achilli et al. 2008  For example, the subclade A2w1 is present among the Maya of Mexico.Mizuno et al. 2017

Haplogroup A2 is also found today among Hispanics of North, Central, and South America as the result of intermarriage with Amerindians who were converted to Roman Catholicism.  A2 is also present among Brazilians with mixed ancestry.Ferreira et al. 2024, page 130

Some Canadian people of mixed ancestry from French-speaking families also have these haplogroups.  The project "Acadia--Métis Mothers" at Family Tree DNA includes participants who have Acadian ancestors and their mtDNA haplogroups include A2 and A2f1a, both of Amerindian origin, with documented matrilineal descent from the women Edmée Joseph, Cécile Joseph, Françoise Rousseau, and Jeanne Lejeune dit Briard.Acadia--Métis Mothers - mtDNA Test Results for Members, Rundquist 2021  The Acadian haplogroup A2f1a is shared with certain Amerindian tribes, such as the Ojibwe and the Cree.  Samples of A2f1a among the First Nations of Canada exist in the database GenBank.GenBank sample JQ247408

A2 is also present among the autochthonous peoples inhabiting regions in the extreme northeast of Asia, including among the Chukchi, Koryaks, and Evens.  Its subclades A2a, A2a6, A2a8, A2a9, A2b, and A2b1 exist among the Chukchi, A2b1 also among the Koryaks, and A2a9 among the Evens.Derenko et al. 2023, Table 1


Distribution in Europe

Among modern populations in Europe, this haplogroup is encountered in very small proportions and only in certain countries or ethnic groups.  They include the haplogroups A1a3 in Greece,A1a3 in MTree A8a1c among the Ukrainians,A8a1c in MTree A8a1c1 in Poland and Ukraine,A8a1c1 in MTree A8a2b in Poland,A8a2b in MTree and A26a1 and its subclades in Denmark.A26a1 in MTree

Haplogroup A12a has been found among modern people living in Hungary,GenBank sample MG952783 specifically its subclade A12a2a2,A12a2a2 in MTree formerly called A12a2b, and we also find it among the Székelys of Transylvania.Borbély et al. 2023

Haplogroup A-a1b3a1 is found among Ashkenazi Jews in central Europe and eastern Europe.GenBank sample OQ732697, A-a1b3a1 in MTree


Paleogenetics

Carriers of haplogroup A have also been discovered through studies of ancient DNA.  Haplogroup A26 was present among medieval Avars and medieval Magyar conquerors and was found in a member of the aristocratic Báthory family of Transylvania of Hungarian origin.Ginguta et al. 2023  Four male carriers of haplogroup A8a1 and one male carrier of haplogroup A+152+16362+16189 were buried in the Rákóczifalva cemetery in Hungary in the early Middle Ages.Gnecchi et al. 2024, Supplementary Table 1  Carriers of haplogroup A10 lived in western Siberia during the Bronze Age.Pilipenko et al. 2015


Footnotes

Achilli et al. 2008 = "The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies" by Alessandro Achilli, Ugo A. Perego, et al. in PLoS One 3:3 (March 12, 2008): e1764.

Askapuli et al. 2022 = "Kazak mitochondrial genomes provide insights into the human population history of Central Eurasia" by Ayken Askapuli, Miguel Vilar, et al. in PLoS One 17:11 (November 29, 2022): e0277771.

Borbély et al. 2023 = "High Coverage Mitogenomes and Y-Chromosomal Typing Reveal Ancient Lineages in the Modern-Day Székely Population in Romania" by Noémi Borbély, Orsolya Székely, et al. in Genes (Basel) 14:1 (January 3, 2023): article number 133.

Brook 2022 = The Maternal Genetic Lineages of Ashkenazic Jews by Kevin Alan Brook (Academic Studies Press, 2022).

Derenko et al. 2023 = "Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk" by Miroslava Derenko, Galina Denisova, et al. in Journal of Human Genetics 68:10 (October 2023): pages 705-712.

Ferreira et al. 2024 = "A pilot study of mitochondrial genomic ancestry in admixed Brazilian patients with type 1 diabetes" by Lívia Leite Ferreira, Anna Beatriz Rodrigues Gonçalves, et al. in Diabetology and Metabolic Syndrome 16 (June 15, 2024): article number 130.

Ginguta et al. 2023 = "Genetic identification of members of the prominent Báthory aristocratic family" by Alexandra Gînguță, Bence Kovács, et al. in iScience 26:10 (October 20, 2023): article number 107911.

Gnecchi et al. 2024 = "Network of large pedigrees reveals social practices of Avar communities" by Guido Alberto Gnecchi-Ruscone, Zsófia Rácz, et al. in Nature 629:8011 (April 24, 2024): pages 376-383.

Mizuno et al. 2017 = "Characterization of complete mitochondrial genomes of indigenous Mayans in Mexico" by Fuzuki Mizuno, Li Wang, et al. in PLoS One 44:7 (August 22, 2017): pages 652-658.

Pilipenko et al. 2015 = "MtDNA Haplogroup A10 Lineages in Bronze Age Samples Suggest That Ancient Autochthonous Human Groups Contributed to the Specificity of the Indigenous West Siberian Population" by Aleksandr S. Pilipenko, Rostislav O. Trapezov, et al. in PLoS One 10:5 (May 7, 2015): e0127182.

Rundquist 2021 = "Travel by ancestry -- as Advanced 'Big Y' DNA test results reveal Leger surname genetic marker I-BY70584" by Marie Rundquist, March 22, 2021.


Other haplogroups:
  • mtDNA Haplogroup K