Occasionally I get comments from Ashkenazic Jews from eastern Europe that they or certain members of their families have a few physical characteristics typical of East Asian peoples belonging to the Mongoloid race, such as something Asiatic about their eyes, cheekbones, or hair thickness. There are also some photographs of Ashkenazim where such features are faintly evident, although European and Middle Eastern (West Asian and Southwest Asian) phenotypes prevail in most families.
It turns out there is a genetic basis for a small amount of East Asian and Northeast Asian (East Siberian) ancestry in Ashkenazim, just as there is in some neighbors of Ashkenazim such as non-Jewish Hungarians, Ukrainians, Romanians, and Russians, though the Mongoloid inputs into these populations didn't always come from the same source populations. Let's review the evidence we have so far:
On August 6, 2012, results from 230 Ashkenazic Jews who took the 1540C allele test were added to The ALlele FREquency Database's Graphical display of Allele Frequencies for Val370Ala - Locus Ectodysplasin A receptor by Kenneth Kay Kidd, Professor of Genetics at Yale University School of Medicine in New Haven, Connecticut.
This page explains: “This is a C/T SNP in the coding region of EDAR gene. [...] The 1540C allele of this polymorphism has been reported to be associated with Asian-specific hair thickness (Fujimoto A etal).”
The full citation of this study is: Akihiro Fujimoto, Ryosuke Kimura, Jun Ohashi, Kazuya Omi, Rika Yuliwulandari, Lilian Batubara, Mohammad Syamsul Mustofa, Urai Samakkarn, Wannapa Settheetham-Ishida, Takafumi Ishida, Yasuyuki Morishita, Takuro Furusawa, Minato Nakazawa, Ryutaro Ohtsuka, and Katsushi Tokunaga. "A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness." Human Molecular Genetics 17:6 (March 15, 2008): pages 835-843. The authors wrote, “It was inferred from geographic distribution of 1540T/C and the long-range haplotype test that 1540C arose after the divergence of Asians from Europeans and its frequency has rapidly increased in East Asian populations. These findings lead us to conclude that EDAR is a major genetic determinant of Asian hair thickness and the 1540C allele spread through Asian populations due to recent positive selection.”
"Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant" by Yana G. Kamberov, Sijia Wang, Jingze Tan, Pascale Gerbault, Abigail Wark, Longzhi Tan, Yajun Yang, Shilin Li, Kun Tang, Hua Chen, Adam Powell, Yuval Itan, Dorian Fuller, Jason Lohmueller, Junhao Mao, Asa Schachar, Madeline Paymer, Elizabeth Hostetter, Elizabeth Byrne, Melissa Burnett, Andrew P. McMahon, Mark G. Thomas, Daniel E. Lieberman, Li Jin, Clifford J. Tabin, Bruce A. Morgan, and Pardis C. Sabeti in Cell 152:4 (February 14, 2013): pages 691-702 states: “An adaptive variant of the human Ectodysplasin receptor, EDARV370A, is one of the strongest candidates of recent positive selection from genomewide scans. [...] EDAR370A has been associated with increased scalp hair thickness and changed tooth morphology in humans[...] Spatially explicit simulation, haplotype, and maximum likelihood analyses suggest that 370A originated once in central China more than 30,000 years BP with a selective coefficient that is one of the highest measured in human populations.”
Of the Ashkenazim Kidd tested, 1.7% of them were found to have the 1540C allele, with the remaining 98.3% having the 1540T allele.
By contrast, none of the 52 Sephardic Jews or 80 Yemenite Jews Kidd tested have the 1540C allele. Nor do any of the Samaritans, Bedouins, or Palestinian Arabs of the Israel-Palestine region have it. The Druze have a very small frequency of carrying it. Kuwaitis sometimes have it too, and Somalis for some reason have it in a significant frequency.
The 1540C allele is most prevalent among East Asian peoples like the Japanese and Qiang. It's also common in Amerindians, who mostly descend from North/East Asians. One also finds it in Asian lands west of East Asia among part-Mongoloid peoples like Kazakhs, Hazaras, and Khantys. Among European peoples who possess quantities of 1540C are those with known East/North Asian ancestry including Chuvash, Finns, Hungarians, and Russians, but also Greeks and Adygei. It is not, however, found among most West European populations like French, Italians, Danes, Irish, British, and Sardinians.
As a side note, Figure 1 in "Positive Selection in East Asians for an EDAR Allele that Enhances NF-kB Activation" by Jarosław Bryk, Emilie Hardouin, Irina Pugach, David Hughes, Rainer Strotmann, Mark Stoneking, and Sean Myles in PLoS ONE 3:5 (May 21, 2008): e2209 is consistent with Kidd's results in finding the EDAR allele 370A in a small number of Russians, and, likewise, looking at Figure 1 in Kamberov et al.'s study there is a barely-perceptible red sliver (designating the 370A variant) on the pie chart for the Northern Russians whom Kamberov's team tested. The more westerly European peoples tested by Kamberov's team entirely lack the allele.
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Want to know if you have the East Asian version of EDAR? If you've been autosomally tested by 23andMe, Family Tree DNA, or AncestryDNA, download your raw data, open the file, and look for the row marked "rs3827760". If you see AA or TT, you don't carry the East Asian version. If you see AG or CT, you inherited the East Asian version from only one of your parents, but still have an increased chance of having straighter and thicker hair and shovel-shaped incisors. If you see GG or CC, you inherited the East Asian version from both parents. |
Haplogroup evidence shows that several ancestral lines from East Asian women came into the Ashkenazic population hundreds of years ago through interracial relationships. The existence of such relationships before the 19th or 20th century wasn't documented; we only know they took place because of the genetic evidence.
The mtDNA haplogroup M33c is found among Ashkenazim from Belarus as well as among South Chinese people "but from absolutely nowhere in between" those two regions, reported the genetic genealogist Ted Kandell to the Y-DNA-G2c group at Yahoo! Groups as well as here and here, though he mistakenly called it M33c1.
Family Tree DNA's "Jewish Ukraine West" project has Jews whose ancestors lived in western Ukraine and Moldova. The following project members confirmed that their haplogroup is M33c as of February 16, 2015:
Family Tree DNA's "M mtDNA Haplogroup" project also has some East European Jewish members. As of November 21, 2018, kit 266609 also belongs to this project, along with these additional Jewish members:
Family Tree DNA's "Lyubcha (Novogrudok) and Slutsk, Belarus Jewish families" project includes kit 46 as a member where the person's surname is listed as Bell. Allison Bell, who discovered her matriline (descended from Bertha Dobrin Rozovsky from southeastern Belarus) is mtDNA haplogroup M33c (at first classified just as M with the mutations 16111, 16223, 16235, and 16362) by testing with Family Tree DNA, was likely the first person to mention its presence in Ashkenazim and its likely migration along the Silk Road in her July 27, 2002 post to JewishGen's DNA discussion group, although at the time she wondered if its origin had been Uzbekistan. She mentioned its Chinese origin in her letter to the editor in Points East newsletter's July 2008 issue on page 4. Another Jewish M33c kit listed is:
Family Tree DNA's "Bardyga Family Surnames Project" includes the following Jewish M33c carrier:
Family Tree DNA's "Winter-Winters Family DNA Project" includes the following Jewish M33c carrier:
Debra Winegarten is Ashkenazic and Family Tree DNA informed her that her haplogroup is M33c. Writing as "Devorah Winegarten", she told the "M33c DNA Cousins" group on Facebook: "My maternal line hails from Grodno, with stops along the way in Berlin, as well. Last names are Kagan, Cohen (in the US) and Lewin." Grodno is a city in Belarus also called Hrodna. She told me her most distant maternal ancestor was named Czerny Kagan.
Shirley Saunders is Ashkenazic and Family Tree DNA assigned her father to the haplogroup M33c as she wrote in message 178 of the "Ra1a1_Ashkenazi_Levite_Spreadsheet" group: "My late father Joseph Gann was Y R1a1a and MtDNA M33c. He came from northeastern Lithuania from the Rokiškis area." She told me Joseph's maternal grandmother Tzerilotte Gershon Shteiman "was born in the Dusetos area of eastern Lithuania near the Latvian border in 1842." Shirley's information is significant since it means M33c is also found in Lithuanian Jews; the study below by Jiao-Yang Tian did not report on its presence among Lithuanian Jews.
Al L. Bell is Ashkenazic and was assigned to haplogroup M (before the branch was specified to be M33c) with the mutations 16111 (C16111T), 16223 (C16223T), 16235 (A16235G), and 16362 (T16362C) by Family Tree DNA in 2001. On July 27, 2002, in addition to mentioning the aforementioned haplogroup assignment and mutation numbers, Al wrote to JewishGen's DNA discussion group: "My earliest known matrilineal ancestor was a Jewish woman named Bertha DOBRIN ROZOVSKY who lived in southeastern Belarus."
An Ashkenazic person who was informed by 23andMe that his haplogroup is M33c told me his maternal line's ancestry comes from Polotsk, Belarus.
The Ashkenazi S.L., whose maternal grandmother was born in Zhytomyr Oblast, Ukraine, also belongs to M33c per 23andMe.
The Ashkenazi J.S., whose maternal grandmother was born in Budapest, Hungary, also belongs to M33c per 23andMe.
Note that the kits listed above belong to M33c, not M33c1. Also note that none of the members (at this time) who were tested to belong to M33c and subsequently joined the "M mtDNA Haplogroup" project state their recent ancestry to be East Asian.
M33c is a child of the haplogroup M, whose subhaplogroups are very common among peoples of East Asia and South Asia like Japanese, Ainu, Koreans, Vietnamese, Tibetans, Nepalese, Bangladeshis, Siberians, and Asian Indians. Subhaplogroups belonging to the clade haplogroup M33 are found among peoples of East Asia and South Asia. Specifically, haplogroup(s) of M33 were found in 1.8% of Southern Han Chinese ("CHS") people from the Hunan province of south-central China and the Fujian province of southeastern China in the study "Major Population Expansion of East Asians Began before Neolithic Time: Evidence of mtDNA Genomes" by Zheng Hong-Xiang, Yan S., Qin Zhen-Dong, Wang Yi, Tan Jing-Ze, et al. in PLoS ONE 6:10 (October 6, 2011): e25835 (see "Table 1. Haplogroup frequencies in the four East Asian populations") and among two Han Chinese who live in Southern California in the study "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans" by Ji Fuyun, Mark S. Sharpley, Olga Derbeneva, L. S. Alves, P. Qian, Y. Wang, D. Chalkia, M. Lvova, Xu J., Yao W., M. Simon, J. Platt, Xu S., A. Angelin, A. Davila, Huang T., Wang P. H., Chuang L. M., L. G. Moore, Qian G., and D. C. Wallace in Proceedings of the National Academic of Sciences of the United States of America (PNAS) 109:19 (May 8, 2012): pages 7391-7396.
M33's child M33a is found among people in the Gujarat state of northwestern India per the study "In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India" by Thangaraj, et al. in BMC Genomics 7:151 (2006) but that's a different branch from the M33c of Ashkenazim. M33a's presence among Gujarat's Tadvi clan of the Bhil tribe and among the Khasi and Garo peoples of northeastern India and Bangladesh was noted in the study "Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans" by Mait Metspalu, Toomas Kivisild, et al. in BMC Genetics 5 (August 31, 2004): article number 26. The study "Mitochondrial DNA sequencing reveals association of variants and haplogroup M33a2'3 with High altitude pulmonary edema susceptibility in Indian male lowlanders" by Swati Sharma, Sayar Singh, et al. in Scientific Reports 9 (July 29, 2019): article number 10975 stated that M33a1a is found among Lepcha tribes in Sikkim in northeastern India, M33a1b30 among the Dongri Bhill tribe from Madhya Pradesh in central India and Rajasthan in northwestern India, and M33a2 among tribes in Maharashtra in western India as well as members of the Rajbanshi tribe specifically in West Bengal and among Brahmins in Uttar Pradesh in northern India.
M33c isn't the only M haplogroup that Ashkenazim possess. Some Ashkenazim who had the full sequence test performed on their mtDNA belong to the mtDNA haplogroup M1, especially its branches M1a and M1a1b. M1a1b came to Ashkenazim from the Middle East, Northeast Africa (Egypt), or the Mediterranean Sea region (Sardinia).
An article focusing on M33c and its presence in both East Asian and East European Ashkenazic populations, but nowhere else in the world, has been published: "A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road" by Jiao-Yang Tian, Hua-Wei Wang, Yu-Chun Li, Wen Zhang, Yong-Gang Yao, Jits van Straten, Martin B. Richards, and Qing-Peng Kong in Scientific Reports vol. 5 (February 11, 2015): article number 8377. 34 members of the Han, Zhuang, Yao, Miao, Kam-Tai, and Tibetan ethnic groups of China, mostly living in southern China, were found to have M33c. It was also found in a few non-Chinese samples from Vietnam (2) and Thailand (1). You can see the entire list of the ethnicities and regional origins of their samples who belong to M33c here. Some of those samples came from Family Tree DNA. The 14 Ashkenazic maternal lines came from Belarus, Russia, western Ukraine, Poland, Romania, and Hungary. Since M33c's greatest genetic diversity is found in China, that is believed to be its point of origin. With regard to the Ashkenazic-specific branch of M33c, in the branching diagram it is closest to the branch belonging to the Han sample from Sichuan (coded SC* and DJY576 by the authors). You can see the branches on the median-joining network as well as the geographic map here and another branching diagram, the phylogenetic tree, is here. The founding lineage underpinning the Ashkenazic and Sichuan samples that distinguishes them from the other M33c samples by virtue of mutations is assigned the nomenclature M33c2 by the authors.
M33c2 is called M33c3 by the unofficial MTree 1.02.7768 run by YFull. This is why sample JQ702003.1, which was identified as one of the M33c2 samples by Figure 2 of the article "A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road", is listed under M33c3 in the MTree, and also why the mutation C4182T (4182s) is listed in both places. It's simply called M33c by Mannis van Oven's PhyloTree Build 17 released on February 18, 2016, which still has not yet been updated as of the time of this writing, so I suppose we cannot say that either M33c2 or M33c3 is the "official" designation for this branch.
The mtDNA haplogroup N9a3, which also originated in East Asia, is found among some Ashkenazim as well as among some East Siberians and some Sephardic Jews from Turkey, as Ted Kandell pointed out here.
I got a few more details about N9a3 from email correspondence with William Boyce, who wrote about Ashkenazim having N9a3 here, and previously here and here (those two pages are now offline and not archived). Boyce told me: "[...] the n9a3 haplogroup found in about 1-2% of Ashkenazim [...] it is very rare, and found only sparsely, in regions stretching from Siberia to Kazackstan, Mongolia to South China. [...] Inside of the DIY 23andMe community, I've so far tracked down a dozen Ashkenazim (almost all with maternal Lithuanian roots), as well as 4 individuals of East Asian descent (2 South Korean, 1 Chinese, 1 Japanese), and one non-Ashkenazi European of maternal Romanian descent. N9a3 seems to have no more than a 2 to 3% presence in any given population, but is spread throughout a wide geographical area (including to my knowledge, Buryat, Siberian, Korean, Japanese, Chinese, Uzbek, Mongol and Altaic/Turkic peoples). I've also seen various data suggesting N9a3 is found in Hungarian, Czech and Southern Russian populations, but at incidence of no more than 1%." Later, in March 2015, Boyce observed: "I continue to find is that upwards of 90% percent of N9a3's through 23andme outside Ashkenazi's are of Korean descent." Boyce told me in March 2015 that he heard from a Turkish Jewish woman who belongs to N9a3 and says her maternal grandmother's mother came from the North Caucusus (presumably a Mountain Jew?). He was building a population map that shows Ashkenazic carriers of N9a3 whose ancestors lived in Lithuania (including Vištytis), Belarus (including Slutsk), Ukraine, and Russia. There's an N9a3 carrier in Qingdao, China of Chinese ethnicity. Lulu Q. Lin's family is from Shanghai, China "in recent generations" and she belongs to N9a3 as she commented on August 29, 2014 at 9:24pm. A staff member of the DNA laboratory Táiwān Jīyīn Sùyuán (Taiwan Gene Traceability) commented on August 2, 2015 at 5:14pm: "We also have someone tested N9a3. In Taiwan, 1.5% people have N9a3."
In a message to Boyce's The N9a3 Project at Facebook, Boyce himself commented on October 6, 2013 at 9:04pm: "my maternal great grandmother was from Lithuania as well. From what I have seen so far- a majority of Ashkenazi Jews with N9a3 have maternal roots from Lithuania- including my own family." He was replying to Ava Rich who wrote on October 6, 2013 at 6:11pm that her Ashkenazic maternal great-grandmother was from Lithuania. But not every N9a3 carrier had their maternal roots in Lithuania. On February 10, 2014 at 2:41pm, David Tulchinsky wrote a comment to the Facebook page that his Ashkenazic maternal grandmother from whom he inherited N9a3 was originally from Ula, Belarus. On February 9, 2014 at 5:03pm Tulchinsky wrote that his second cousin Katrin Zanevsky shares the same ancestor in her maternal line so she also carries N9a3 and they have both tested through 23andMe. This discussion at forum.vgd.ru includes a July 3, 2013 uploading of a screenshot showing a list of some N9a3 matches in 23andMe including the Jewish member Kalman Davidov whose roots are from Lithuania, plus the aforementioned David Tulchinsky and some people without names listed publicly; the top of the list reveals it was obtained by an N9a3-carrying woman with eastern European roots including Ashkenazic family names and ancestors who lived in Vitebsk and Tomsk among other places.
A misleading article titled "How Sara Sheridan's DNA test unveiled her past" appeared in the Scotsman newspaper on May 16, 2013. Sheridan's mother is a Russian Jew and she had her mtDNA tested by a company called ScotlandsDNA.com. The company's managing director, Alistair Moffat, claimed to Sheridan that her mtDNA originated around the island of Sakhalin in the north of Japan from the Ainu people. Moffat was right about her having an "incredibly rare" mtDNA haplogroup (not named by the article, and incorrectly called "9Na" by Sheridan's own article "Who Do You Think You Are?" in the Huffington Post on May 13, 2013, but it's N9a3) but wrong to try to pinpoint it as being solely "a Sakhalin marker" of Ainu origin. This claim by ScotlandsDNA led Sheridan astray and she was led to believe that in the middle of the 19th century an Ainu female slave had a relationship with one of her male ancestors somewhere in the Russian Empire.
Jill Whitehead, another Ashkenazic Jew, tried to set the record straight in a comment she posted below this Scotsman article on May 17, 2013. Whitehead noted that scientific studies reveal that "The Japanese make up only one small part of N9, there are many other N9's to be found throughout the world". (Sheridan herself acknowledged in her Huffington Post article that although it's supposedly originally from Japan it spread to Mongolia, Siberia, and other parts of East Asia: "I spring from a female line called 9Na that developed 17000 years ago in the area around Japan's most northerly island and on the mainland just opposite. The stuff I'm made of is Oriental, Siberian and Mongolian.")
Whitehead added that an ancient population that inhabited modern-day Hungary sometime between about 10200 BCE to 2000 BCE also had carriers of this haplogroup: "In fact, a very recent academic paper from 2012 by Derenko et al from the Russian Academy of Sciences points to a series of Neolithic skeletons found in Hungary as being N9a3."
Whitehead found "I have no less than four assigned third cousins on the DNA testing site 23andme, who are all N9a3, and they are all American Ashkenazi Jews from Poland/Lithuania/Belarus originally, who are related to me sometime back in about the late 18th/early 19th century." However, she's wrong to call N9a3 a specifically "Jewish subclade" as it is also found among non-Jews, as Kandell and Boyce noted further up.
In a comment Whitehead submitted for online posting on a December 8, 2013 blog entry by Debbie Cruwys titled "Setting the record straight about Sara Sheridan's 'Japanese' DNA", Whitehead wrote, in part, "ScotlandsDNA advised the Scottish author Sara Sheridan that her N9a haplogroup was Japanese or Korean even though she was of Jewish Ashkenazi origins. Surely alarm bells should have rung?" No, I don't think so, because it's a fact (from the EDAR gene testing and autosomal testing that I cite on this page) that there's a little bit of East Asian ancestry in Ashkenazim, so finding a few haplogroups that reflect this ancestry isn't unexpected.
Whitehead told Cruwys she researched Sheridan's family background using ScotlandsPeople.gov.uk, naturalization records hosted by the website of the National Archives, and JewishGen.org's Shtetl Finder and determined that Sheridan's maternal line ancestor lived specifically in the area that's today part of Belarus.
I took a look at FamilyTreeDNA.com's N mtDNA project which allows anyone with a positive result for this haplogroup to join. Their description mentions that Ann Curry, of Japanese maternal descent, was found to belong to N9a by National Geographic's Genographic Project.
The N mtDNA project's results page lists some haplogroup "N9a" carriers who tested through FamilyTreeDNA.com including some with Korean, Japanese, and Filipino names and roots but also these people who appear to be Ashkenazic Jews who are listed as of February 29, 2016:
Kit 120477 was later added to the N mtDNA project as well and this kit's matrilineal country of origin is listed as Poland.
Under their section for the haplogroup "N9a3" are listed the following kits as of June 21, 2020 - one Chinese matriline and multiple Ashkenazic Jewish matrilines:
This additional Ashkenazic N9a3 carrier was added to that project by June 20, 2021:
This N9a3 carrier from Russia's Chechen Republic was added to that project by June 20, 2021:
Two more North Caucasian N9a3 carriers joined that project by October 20, 2023:
The Jewish Genealogy Society of Long Island's DNA project includes this participant:
Since both Ashkenazim and East Asians in their database carry N9a and N9a3, there is no basis for Whitehead's argument that N9a3 is some kind of specifically Ashkenazic branch. She preferred to see Ashkenazim as having inherited this haplogroup from a European-origin population like the Neolithics of Hungary because she was in disbelief about East Asian admixture into the Ashkenazic population.
23andMe reported to customers, including the Ashkenazic woman Sue Zemel whose haplogroup is N9a3, that "N9a is widespread in central and eastern Asia but extremely rare. Its only concentrations are among indigenous inhabitants of the Malay peninsula. The haplogroup is found at levels well below 10% from southern China to Mongolia and Kazakhstan." They list Malay, Semang, and Uzbek people as among the ethnic groups who have N9a, and their map shows that some people also have it in Japan and North Korea.
The Ashkenazi A.S., whose maternal grandmother was born in Budapest, Hungary, also belongs to N9a3 per 23andMe.
The study "Mitochondrial Genomes Uncover the Maternal History of the Pamir Populations" by Min-Sheng Peng, Weifang Xu, et al. in European Journal of Human Genetics 26:1 (January 2018): pages 124-136 includes 4 Pamiri mountaineers' samples uploaded to GenBank carrying mtDNA haplogroup N9a3: MF522843, MF522846, MF522908, and MF522999. Pamiris live in Afghanistan, Tajikistan, and Pakistan. I learned from Supplementary Table 4 in the 2022 study "Kazak mitochondrial genomes provide insights into the human population history of Central Eurasia" that MF522843, MF522846, and MF522908 are ethnic Kirghiz, that is Pamir Kyrgyz, individuals.
"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 in the Supplementary Table 2 includes sample ID AL118, an ethnic Kazakh carrier of N9a3 who belongs to the Alban clan in southeastern Kazakhstan.
Of particular relevance is the fact that the branch of N9a3 carried by Bashkirs (a Turkic people from the Ural Mountains region) and Daurs (a Mongolic people from northeastern China), called N9a3a1b by YFull's MTree, is directly ancestral to the Ashkenazic branch N9a3a1b1. See pages 85-86 in The Maternal Genetic Lineages of Ashkenazic Jews (Academic Studies Press, 2022) and verify with the Ashkenazic N9a3a1b1 sample with a matriline from Poland that I collected which has the GenBank accession number OQ732365 and the mutations A73G T146C C150T A263G 309.1C 309.2C 315.1C A750G A1438G A2706G A4129G A4769G G5231A G5417A C7028T C7810T A8860G G11719A T12354C A12358G G12372A A12612G C12705T C14766T A15326G G16129A C16223T C16257A C16261T confirmed by Ian Logan. It could mean that N9a3a1b1 came from a Khazar woman.
A pre-modern carrier of mtDNA haplogroup N9a3 who lived approximately between 1,246 +/- 65 to 660 +/- 30 years before the year 2020 was found among Hanging Coffin samples from Yunnan province in southwestern China that were examined in the study by Xiaoming Zhang, Chunmei Li, et al., "A Matrilineal Genetic Perspective of Hanging Coffin Custom in Southern China and Northern Thailand," iScience 23 (April 24, 2020): 101032; this sample is listed on page 3 in the study and its GenBank identifier is MN006852.
"A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages" by Marta D. Costa, Joana B. Pereira, Maria Pala, Verónica Fernandes, Anna Olivieri, Alessandro Achilli, Ugo A. Perego, Sergei Rychkov, Oksana Naumova, Jiři Hatina, Scott R. Woodward, Ken Khong Eng, Vincent Macaulay, Martin Carr, Pedro Soares, Luísa Pereira, and Martin B. Richards in Nature Communications 4 (October 8, 2013): article number 2543 doesn't assign N9a to either a European or Near Eastern origin in "Supplementary Table S9. The source of Ashkenazi mtDNA lineages based on 836 control-region sequences". Costa's team's "Supplementary Figures" document indicates that they found Asian (non-West) mtDNA haplogroups in 1.1% of the Ashkenazim they sampled. They didn't name ALL of their exact haplogroup names, because they vaguely say that some of them belong to the categories or families "M/A" and list the rest in "Others". They include N9a as part of "Others". (The other "Others" they list are N1c and K1a4). The "M/A" group makes up 1% of the 1.1% so the remaining 0.1% is N9a. Since they say "Others" represents 0.5% of all Ashkenazic mtDNA lineages, N9a makes up only one-fifth of that. I assume that their "M/A" includes the above-mentioned haplogroup M33c combined with the haplogroup A that I write about below.
Some frequency statistics from Costa et al.'s "Supplementary Table S6. Summary of distributions of the main haplogroups in the Ashkenazi mtDNA control-region data":
The "M/A" Asian group is found in 0.5% of Czech/Austrian/Hungarian Jews, and 1% of West European Jews as a whole, but 2% among French Jews (!), actually higher than the 1.4% reported among Russian/Belarusian Jews, and the 1.2% in Polish Jews. However, Romanian/Moldovan Jews also have 2% of these "M/A" elements.
Their "Others" category that includes N9a is found in 1.4% of Belarusian Jews and 2% of Romanian/Moldovan Jews, compared with just 0.5% in Czech/Austrian/Hungarian Jews and absolutely zero percent in Jews from Poland, Ukraine, and the Baltic region. Although their particular Baltic Jewish samples lacked N9a, known holders of N9a in other databases do include Lithuanian Jews, as noted above by people who have N9a and looked at their matches.
The mtDNA haplogroup A also is assigned an origin in East Asia. It is only rarely found among Ashkenazim.
In the "Supplementary Data" spreadsheet of the study "MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population" by Doron M. Behar, Michael F. Hammer, Daniel Garrigan, Richard Villems, Batsheva Bonne-Tamir, Martin Richards, David Gurwitz, Dror Rosengarten, Matthew Kaplan, Sergio Della Pergola, Lluís Quintana-Murci, and Karl Skorecki in European Journal of Human Genetics 12:5 (May 2004): pages 355-364, the authors indicate that the Asian mtDNA haplogroup A is found in 0.2% of the Ashkenazim they tested. That 0.2% represents a solitary individual in their study.
Anita Brandstätter, Balazs Egyed, Bettina Zimmermann, Attila Tordai, Zsolt Padar, and Walther Parson. "Mitochondrial DNA control region variation in Ashkenazi Jews from Hungary." Forensic Science International: Genetics 2:1 (January 2008): pages e4-e6. First published electronically on September 24, 2007. One sample (As2C5) out of the 177 Hungarian Jewish sequences this study submitted to the EMPOP database under accession number EMP00027 was assigned to haplogroup A, which is described as an "Asian" lineage on page e5.
Haplogroup A has the most carriers in East Asia as well as its greatest degree of variety there so that is believed to be its point of origin. East Asians with varieties of A include Koreans, Tibetans, Vietnamese, Japanese, Ryukyuans, Han Chinese, Nakhi of China, Yi, Hmong, and several others. Varieties of A are also found in Siberians (Evenks, Buryats, Mansi, etc.), Mongols, Volga Tatars, Anatolian Turks, eastern Persians, Tajiks, Amerindians, and Inuit among others.
The subclade of A that a few Ashkenazim belong to used to be called A4 as of Family Tree DNA's mtDNA Build 16, but in Family Tree DNA's mtDNA Build 17 released on March 24, 2017 it's called A-T152C!-T16189C!. Leslie Dann Weinberg and Fern Abrams wrote here that they are East European Ashkenazic Jews who belong to haplogroup A4 (reported by Family Tree DNA). Katerina Fomicheva wrote here that she's from Saint Petersburg, Russia and her Jewish mother gave her A4 (reported by 23andMe). The East European Ashkenazic Jew J.K., whose recent ancestors were from Latvia and Russia, tested at 23andMe, which indicated membership in A4. The Polish Jew C.K., whose maternal grandmother was from Poland, also belongs to A4 according to 23andMe. Roberta Estes wrote here that some varieties of A4 are found among Chinese and Amerindians. The Amerindian branches, however, differ from the Ashkenazic branch, and the haplogroup A ancestor of Ashkenazim lived in Eurasia, not in the Americas.
By September 8, 2021, Family Tree DNA's public mtDNA Haplotree for "Countries haplogroup A-T152C!-T16189C!" includes "1 participant" from Uzbekistan.
By closely studying the mutations, the population geneticist Leo R. Cooper later confirmed to me that the Ashkenazic branch's terminal subclade is specifically A-a1b3a, as it is called in YFull's MTree, which is also shared with a Turkmen from Uzbekistan and with a sample from medieval Kazakhstan. After that, I collected an Ashkenazic A-a1b3a sample with a matriline from Poland, with the GenBank accession number OQ732697, and its list of mutations provided by Ian Logan is: A73G C150T T152C T204C A235G A263G 309.1C 309.2C 315.1C C522- A523- A663G A750G A1438G A1736G A2706G A3213G T3801C T4248C A4769G A4824G C7028T C8794T A8860G C9728T G11719A C12705T T14025C C14766T A15326G A16182- A16183- T16189C 16193.1C 16193.2C C16223T C16290T G16319A T16362C. YFull's MTree then used this sample and one other sample to designate a new branch called A-a1b3a1, defined by C9728T, while the Turkmen and medieval Kazakhstani remain A-a1b3a.
"No Evidence from Genome-Wide Data of a Khazar Origin for the Ashkenazi Jews" by Doron M. Behar, Mait Metspalu, Yael Baran, Naama M. Kopelman, Bayazit Yunusbayev, Ariella Gladstein, Shay Tzur, Havhannes Sahakyan, Ardeshir Bahmanimehr, Levon Yepiskoposyan, Kristiina Tambets, Elza K. Khusnutdinova, Aljona Kusniarevich, Oleg Balanovsky, Elena Balanovsky, Lejla Kovacevic, Damir Marjanovic, Evelin Mihailov, Anastasia Kouvatsi, Costas Traintaphyllidis, Roy J. King, Ornella Semino, Anotonio Torroni, Michael F. Hammer, Ene Metspalu, Karl Skorecki, Saharon Rosset, Eran Halperin, Richard Villems, and Noah A. Rosenberg was published in the journal Human Biology's December 2013 issue (volume 85, number 6) on pages 859-900. Here are two relevant quotations from it:
(Yemenis have pointed out that their people from the Hadhramaut region of Yemen had intermarried with people from Malaysia and Indonesia. This would explain some of their eastern genetics.)
18 out of 21 Ashkenazic samples tested in laboratories for use in the "HapMap 3, HGDP-CEPH, and Behar et al. (2010) datasets" discussed here and graphed here carry detectable amounts of "East Eurasian" ancestry (shown on the graph in red), usually around 1% or 2%, with the highest amount (3%) detected in sample number 433. The presence of this component is also true of the Ashkenazic sample submitted to the "Genomes Unzipped" project by Dan Vorhaus, who is coded as "DBV001" on the graph here.
The Somali-Canadian genetic researcher "drobbah" used a well-constructed G25 model to determine ancient admixture proportions for different population clusters of Ashkenazic Jews. In his post of the results, he found that Ashkenazim from Ukraine average 1.2% East Asian, Ashkenazim from Russia average 1.8% East Asian, Ashkenazim from Poland average 1.0% East Asian, Ashkenazim from Lithuania average 1.4% East Asian, and Ashkenazim from Belarussia average 1.2% East Asian, but Ashkenazim from Germany score 0% East Asian.
The genetic testing company 23andMe has tested the DNA of many Ashkenazim and reported back that they have a small amount of East Asian ancestry. This used to include what were purported to be tiny fractions from the Turkic-speaking Yakut (Sakha) people of eastern Siberia or a people closely related to them, but William Boyce told me in March 2015 that 23andMe had updated their methodology or their reference samples and a result was that the formerly "Yakut" segments in Ashkenazim were usually reclassified as "Broadly East Asian" and, later, as "Manchurian & Mongolian".
However: some non-Jewish European people such as some ethnic English and some people with mixed English/French/German/Swiss/and-or/Irish ancestry also show (or at least showed prior to 2015) small amounts of Yakut component at 23andMe, usually also just 0.01%. The supposed Yakut admixture is not exclusive to Ashkenazim by any means.
Small amounts of admixed elements of ancestry back more than 5 or 6 generations (such as an Amerindian ancestor who married into a predominantly European family) are often not detectable using 23andMe's "Ancestry Painting" technique because the inheritance of DNA from a particular ancestor many generations ago is not guaranteed. The specific element they categorize as "Ashkenazi" is the concatenation of ancestral roots shared between Eastern Ashkenazim and Western Ashkenazim, that is Middle Eastern + Western/Southern European. "Eastern European" is an extra element admixed into Eastern Ashkenazim from peoples like Poles and Lithuanians.
Jeffrey D. Wexler told me he tested both of his Ashkenazic parents' autosomal DNA through the genetic testing company Family Tree DNA. Then he used the autosomal DNA functions on GEDmatch and discovered that his mother (whose grandparents lived in Botosani, Romania and Grigoriopol, Moldova in the late 19th century) "has a Siberian admixture that is not insubstantial." He used the Eurogenes Genetic Ancestry Project's Jtest utility which includes an Ashkenazi reference population. Jeff told me, "According to Jtest, my Mom has a Siberian admixture of 1.71%. [...] Koryak and Chukchi are identified as two of her secondary populations. By comparison, according to Jtest my Dad (JBW) is so Ashkenazi that he doesn't have any secondary populations on mixed mode population sharing. (All of his ancestors lived in Poland as of the early 19th century.) Nevertheless, Jtest shows that he has a Siberian admixture of 0.64%." Koryaks and Chukchis live in the Russian Far East. Although a similarity between his mother and those tribes was found, it doesn't mean his most recent purely or predominantly Mongoloid ancestor was a member of one of those tribes, because in comparisons of mixed mode population sharing "the software looks for two-population fits that could explain one's autosomal DNA make-up, but that your ancestors might not come from either of the populations", as Jeff explained. So his ancestor may have been some other kind of Siberian. Jeff wrote here that his ancestors also included Ashkenazim from Poland and Ukraine and there's a story in his family that one of his ancestors was a Sephardic Jew from Turkey, and Jeff stated that his personal Jtest estimates he's 1.04% Siberian.
Cyndi Norwitz is "100% Ashkenazi" whose mother's roots lie in Slovakia and father's roots lie in Poland and Belarus. DNA companies report her Ashkenazic component to be between 94% and 100%. She wrote here that Jtest says she has 0.62% East Asian autosomal admixture but no Siberian admixture and that her EUtest results include 0.81% East Asian but again no Siberian admixture. She also got tested through 23andMe, which she told me reported "I've got 0.1% Yakut (and <0.1% nonspecific East Asian) on speculative. Both on my X. My brother and dad don't have it, so it came from my mom."
"John Doe" a.k.a. Guy J. Jacks provided his Eurogenes results here. His Jtest results show 0.30% East Asian but no Siberian admixture. Similarly, his EUtest results show 0.35% East Asian but no Siberian. His Eurogenes K=15 results here contend that he's 0.62% Southeast Asian, lacking the Siberian element, and allegedly 0.29% Oceanian. His Eurogenes K=13 results here read 1.02% for East Asian. Keep in mind, however, that K=13's results for percentages under 2% are sometimes false readings; for example it gives some Ashkenazim false Amerindian scores. His ancestors were Ashkenazim who lived in Poland, the Galician region of western Ukraine, Germany, and the Posnen region of eastern Prussia.
I saw the results of a person whose recent ancestry is entirely Ashkenazic with ancestors who lived in the 19th century in Galician Ukraine, Poland, Germany, Lithuania, and the Czech Republic. Their Jtest score for "EAST_ASIAN" is 1.16% (and their "ASHKENAZI" score is 28.55%), their EUtest score for "EAST_ASIAN" is 1.39%, and their Eurogenes K36 score for "South_Chinese" is 0.40%.
People of fully Ashkenazic ancestry in recent generations always show "ASHKENAZI" scores between 25 and 40 percent in GEDmatch's Jtest, and usually above 27 percent. With that in mind, I obtained further estimates of East Asian and Siberian admixture from Ashkenazim to supplement this section:
Seth Rogoff ordered an autosomal DNA test from Family Tree DNA. He then processed his raw data through the Eurogenes ANE (Ancient North Eurasian) K=7 test which calculated for him, as he posted here, that he has 1.90% "East_Eurasian" ancestry. His Jtest estimates are 0.80% East Asian and 0.81% Siberian as he posted here. His recent ancestors were Ashkenazim from Ukraine (including the Galician region), Poland, and Lithuania and his "Ashkenazi Diaspora" ethnic component level in Family Tree DNA's myOrigins screen is 100%.
"John Doe" a.k.a. Guy J. Jacks, another Ashkenazi (whom I also discuss further up this page), was told by the Eurogenes ANE K=7 test that he's 0.31% East Eurasian, as he wrote in a comment here.
P. F., another person who knows his recent ancestors were Ashkenazi, and whose Ashkenazi ethnic component level in 23andMe is about 95% on standard view and about 99% on speculative view, was told by the Eurogenes ANE K=7 test that he's 4.08% East Eurasian, as he wrote in a comment here.
However, the Eurogenes ANE K=7 test in its version housed at GEDmatch is known to be partly defective at least for wildly overestimating some people's ANE scores.
Peter B. Golden told me he tested his autosomal DNA through National Geographic's Geno 2.0 and learned he has 2% of the "Northeast Asian" component (that includes the peoples of China, Japan, and Mongolia in their definition). Peter's recent ancestors and relatives were Ashkenazim who lived in Belarus and Russia proper. Geno's admixture detection technique traces a person's ancestry several thousand years back. That's much further back than 23andMe can trace.
Likewise, Brian wrote here and here that his ancestors were mostly Ashkenazim from the Galician region of western Ukraine except for one Jewish family line from Germany and that Geno 2.0 informed him he's 2% "Northeast Asian".
David, posting under the pseudonym "Phyllis Sharon", wrote here that all his recent ancestors were Ashkenazim and that Geno 2.0 told him he's 3% "Northeast Asian".
Boyce told me that an Ashkenazi woman in his project who carries N9a3 is reported to be 2% "Northeast Asian" by Geno 2.0 and that her family's oral history claims her great-great-great-grandmother (the ancestor she inherits N9a3 from) came from Mongolia.
Martin Davis' recent ancestors were all Ashkenazim. The New York Genome Center's DNA.LAND interpreted Martin to be 2% "Northeast Asian: Siberian", as he wrote inside GEDmatch's Native American discussion subforum. This category is derived from population samples from the Chukchi, Itelmen, Koryak, Chaplin, Naukan, and Sireniki peoples.
"Targum", whose recent ancestors were all Ashkenazim, wrote here that he is estimated by WeGene.com according to their algorithm in place as of January 2017 to have 1.77% of his ancestry stemming from peoples of China, including 1.04% Uygur (northwestern China) + 0.57% Lahu (a people in Yunnan province in southwestern China, south of Sichuan province) + 0.14% Hmong-Mien.
Ted Kandell's four grandparents were Ashkenazim from Ukraine, Belarus, and Romania. Professor Doug McDonald analyzed Ted's raw data and suggested that "East Asia" ancestry exists on portions of his chromosomes 3, 5, 6, 8, 9, and 16, as Ted showed us here. The trouble is McDonald also identified a few other segments as "America" in origin which can't be right but must instead refer to descent from Eurasian people who are related to Amerindians.
Ted Kandell wrote here that "Ashkenazi Jews and South Chinese" sometimes share some "autosomal segments". However, I have never seen an autosomal segment shared between Ashkenazim and Chinese that properly triangulates in a cluster, and in any event these segments are small in size.
The ABCC11 gene includes the SNP rs17822931 whose allele settings determine whether a person's ear wax is dry or wet. A person carrying genotype AA (equal to TT) has dry ear wax. Although not all East Asians have the dry type of wax, and not all European Christians have the wet type, the general trend is that the dry type is much more prevalent among East Asians. On January 6, 2021, Daniel Nussbaum II, M.D. told JewishGen's mailing list about his comparisons between Ashkenazic Jews and other Caucasoid people: "This is purely anecdotal, but once I learned of the two different types of ear wax, I noticed a higher incidence of flaky dry ear wax in my Jewish patients."