Haplogroup K1a1b1a (mtDNA) explained

K1a1b1a
Origin-Date:4,800 ± 3,600 Years Ago
Origin-Place:Europe
Ancestor:K1a1b1
Mutations:A10978G T12954C C16234T[1]

In human mitochondrial genetics, Haplogroup K1a1b1a is a human mitochondrial DNA (mtDNA) haplogroup.

The K1a1b1a mitochondrial DNA haplogroup subclade is found in Ashkenazi Jews and other populations. It is a subclade under haplogroup U'K.

Origin

According to National Geographic's Genographic Project, K1a1b1a has an unknown origin. The site stated, "Though the origin of this lineage is not clear, it is a founding population among some Jewish Diaspora groups. Among Ashkenazi Jews, it is about 19 percent of maternal lineages." Estimates of the age of K1a1b1a vary depending on the mutation rates used. The age of K1a1b1a has been estimated at 4,800 ± 3,600 Years Ago, according to the Genographic Project.

The K1a1b1a subclade is under the U'K haplogroup and descends from K1a1b1, which is thought to be an 11,500-year-old European subclade of mostly non Jewish origins. Haplogroup K falls under the old U8 grouping. Some of the Basque people of Spain and France fall under the U8a subclade within U8. K1a1b1a is a U8b subclade within U8, with several downstream variations.

Ötzi, a mummy who was found September 1991 in the Ötztal Alps, is subclade K1ö. Ötzi has mtDNA marker 10978 in common with the Ashkenazi population and others who fall under the K1a1b1a subclade.

By the time of Build 17, released on February 18, 2016, van Oven's phylogenetic tree, called the PhyloTree, updated its definition of K1a1b1a. Now, it requires the presence of the markers 10978 and 12954 in the coding region, and 16234 in the first hypervariable region (HVR1). The mutations involved are written out as A10978G (meaning A transitioned to G), T12954C (meaning T transitioned to C), and C16234T (meaning C transitioned to T). The definition of K1a1b1a no longer requires the mutation (C114T) on the highly polymorphic marker 114 in the second hypervariable region (HVR2). In Build 3, K1a1b1a had been defined by (114), 10978, and 16234 but did not need 12954. In Build 17, (C114T) appears as part of the definition of K1a1 instead. A minority of K1a1b1a carriers, such as JQ702155 and JQ703012, are missing (C114T).

Distribution

10% of Europeans fall under the K haplogroup. It is hypothesized that the subclade represents one of four major founding maternal lineages ("founding mothers") of Ashkenazi Jews which together account for 45% of all Ashkenazi mtDNA haplotypes. Approximately 19% of Ashkenazi Jews with ancestry from Poland are in mtDNA haplogroup K1a1b1a.[2] However, K1a1b1a has also been found in individuals of no known Jewish ancestry, and the explanation will require further research. The Genographic Project along with other research groups are looking into this phenomenon. The haplogroup is distributed in Europe and the Middle East.[3] Estimates suggest approximately 1,600,000 Jews worldwide would be K1a1b1a.

The field of genetic genealogy and DNA sequencing has permitted ordinary people to make use of DNA testing to establish some evidence for their ancestral origins. Thousands of Family Tree DNA customers have submitted their mtDNA sequences for use in scientific studies,[4] including those led by Behar and Brook. Additional samples were provided by the National Laboratory for the Genetics of Israeli Populations. Accordingly, based on the research of Behar, some connection has been established between the K1a1b1a subclade and Jewish ancestry. Aside from Ashkenazi Jews, K1a1b1a is also found in multiple communities of Sephardic Jews from Italy, Turkey, and southeastern Europe[5] along with Baghdadi Jews from India and Paradesi Jews from India.[6] It is also present among the Xueta people of Spain.[7] The notion of Romani origins for K1a1b1a is impossible, given the much greater genetic diversity of K1a1b1a in Jews and the fact that this haplogroup was already widespread in Jewish populations by the 14th century. The presence of K1a1b1a in Romani people in Poland[8] is the result of introgression into a Romani population.

A growing number of GenBank samples support the observations of mutations and population distributions described above.

GenBank Submissions
GenBank ID Origin EthnicityAuthor(s)
DQ301789 U/N Ashkenazi[9] Behar, D. et al.
DQ301795 U/N Ashkenazi Behar, D. et al.
DQ301802 U/N Ashkenazi Behar, D. et al.
DQ301803 U/N Ashkenazi Behar, D. et al.
DQ301805 U/N Ashkenazi Behar, D. et al.
DQ301813 U/N Ashkenazi Behar, D. et al.
EU052292 U/N U/N Greenspan,B. (FTDNA)
EU170362 U/N U/N Greenspan,B. (FTDNA)
EU259709 U/N U/N Greenspan,B. (FTDNA)
EU327782 Zhitomir, Ukraine Ukrainian Greenspan,B. (FTDNA)
EU523126 U/N U/N Greenspan,B. (FTDNA)
EU862197 USA European Greenspan,B. (FTDNA)
EU926147 USA Jewish Greenspan,B. (FTDNA)
FJ228404 Fălticeni, Romania Ashkenazi Greenspan,B. (FTDNA)
FJ938288 Ashkenazi Greenspan,B. (FTDNA)
GU320192 USA Romanian Greenspan,B. (FTDNA)
GU571200 Frankfurt am Main, Germany Ashkenazi Greenspan,B. (FTDNA)
GU585492 U/N U/N Greenspan,B. (FTDNA)
GU722599 Bonn, Germany Ashkenazi Greenspan,B. (FTDNA)
GU723693 USA Ashkenazi Greenspan,B. (FTDNA)
HM101136 USA U/N Greenspan,B. (FTDNA)
HQ667591 Budapest, Hungary Ashkenazi Greenspan,B. (FTDNA)
HQ901176 USA Jewish Greenspan,B. (FTDNA)
JN990448 USA Ashkenazi Greenspan,B. (FTDNA)
JQ702155 Hungary U/N Behar, D. et al.
JQ702245 U/N U/N Behar, D. et al.
JQ702671 Ukraine Ashkenazi Behar, D. et al.
JQ702676 Uzbekistan Ashkenazi Behar, D. et al.
JQ702755 Poland U/N Behar, D. et al.
JQ702780 Belarus Ashkenazi Behar, D. et al.
JQ702859 Lithuania U/N Behar, D. et al.
JQ702945 Russia Ashkenazi Behar, D. et al.
JQ703012 Russia Ashkenazi Behar, D. et al.
JQ703069 U/N Ashkenazi Behar, D. et al.
JQ703165 U/N U/N Behar, D. et al.
JQ703308 U/N U/N Behar, D. et al.
JQ703485 U/N U/N Behar, D. et al.
JQ703662 Ukraine U/N Behar, D. et al.
JQ703855 Germany U/N Behar, D. et al.
JQ704216 U/N U/N Behar, D. et al.
JQ704654 Germany U/N Behar, D. et al.
JQ704812 U/N U/N Behar, D. et al.
JQ705016 Poland Ashkenazi Behar, D. et al.
JQ705204 Germany U/N Behar, D. et al.
JQ705568 Ukraine Ashkenazi Behar, D. et al.
JQ705628 Ukraine Ashkenazi Behar, D. et al.
JQ705745 Lithuania Ashkenazi Behar, D. et al.
JQ705951 U/N Ashkenazi Behar, D. et al.
JQ705979 U/N U/N Behar, D. et al.
JQ706006 U/N U/N Behar, D. et al.
JX153534 Denmark U/N Raule,N. et al.[10]
KC878724 Campania, Italy U/N Costa, M. et al.
KC914580 USA Ashkenazi Greenspan,B. (FTDNA)
KF435080 USA Jewish Greenspan,B. (FTDNA)
KM047228 Poland U/N Skonieczna,K. et al.[11]
KR491936 USA Ashkenazi Greenspan,B. (FTDNA)
KT946594 Great Britain, UK U/N Lee,W.T.Y. et al.[12]
KX350098 Spain U/N Iglesias,E.
KY782247 Poland U/N Malyarchuk,B. et al.[13]
MH120573 Poland U/N Piotrowska-Nowak,A. et al.[14]
MH120671 Poland U/N Piotrowska-Nowak,A. et al.
MN176259 Poland U/N Piotrowska-Nowak,A.
MZ386799 USA U/N Taylor,C.R. et al.[15]
MZ387869 USA U/N Taylor,C.R. et al.
PP153372 Mumbai, India Brook,K.A. et al.

It may be recognized in hypervariable-only samples by the following essential mutations:

Pre-Modern K1a1b1a Samples

Medieval Jews
ID Origin Ethnicity Period Author(s)
I13861 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.[16]
I13862 Erfurt, Germany West Knaanic Jewish (Erfurt-EU) 14th century Waldman,S. et al.
I13866 Erfurt, Germany West Knaanic Jewish (Erfurt-EU) 14th century Waldman,S. et al.
I13867 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.
I13870 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.
I14736 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.
I14741 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.
I14846 Erfurt, Germany Jewish 14th century Waldman,S. et al.
I14851 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.
I14899 Erfurt, Germany Jewish 14th century Waldman,S. et al.
I14903 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.

Notable individuals with Haplogroup K1a1b1a

Subclades

Tree

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

See also

External links

Notes and References

  1. van Oven M, Kayser M . Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation . Human Mutation . 30 . 2 . E386–94 . Feb 2009 . 18853457 . 10.1002/humu.20921 . 27566749 . free .
  2. Behar DM, Metspalu E, Kivisild T, Achilli A, Hadid Y, Tzur S, Pereira L, Amorim A, Quintana-Murci L, Majamaa K, Herrnstadt C, Howell N, Balanovsky O, Kutuev I, Pshenichnov A, Gurwitz D, Bonne-Tamir B, Torroni A, Villems R, Skorecki K . The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event . American Journal of Human Genetics . 78 . 3 . 487–97 . Mar 2006 . 16404693 . 1380291 . 10.1086/500307 .
  3. Web site: mtDNA Haplogroup K: K1a1b1a Subclade Haplotypes. Hurst . William R. . JPG . mtDNA Haplogroup K Project . https://web.archive.org/web/20151122224934/http://freepages.genealogy.rootsweb.ancestry.com/~wrhurst/mtdna-k/kpk1a1b1a.jpg . 2015-11-22 .
  4. Web site: A history of the early days of this project . Hurst . William R. . mtDNA Haplogroup K Project .
  5. Book: Brook, Kevin Alan. 72. 2022. The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. 978-1644699843. 10.2307/j.ctv33mgbcn. 254519342 .
  6. Chaubey. Gyaneshwer. Singh. Manvendra. Rai. Niraj. Kariappa. Mini. Singh. Kamayani. Singh. Ashish. Singh. Deepankar Pratap. Tamang. Rakesh. Rani. Deepa Selvi. Reddy. Alla G.. Singh. Vijay Kumar. Singh. Lalji. Thangaraj. Kumarasamy. Genetic affinities of the Jewish populations of India . 2016-01-13 . Scientific Reports. 6. 6, Supplementary Table 5 . 26759184 . 10.1038/srep19166. 4725824 . 2016NatSR...619166C .
  7. Joana F. Ferragut . Cristian Ramon . Jose A. Castro . António Amorim . L. Alvarez . A. Picornell . Middle Eastern genetic legacy in the paternal and maternal gene pools of Chuetas . Scientific Reports . 8 December 2020 . 10 . 1 . 21428 . 10.1038/s41598-020-78487-9 . 33293675 . 7722846 . 2020NatSR..1021428F .
  8. Grzybowski. Tomasz. Malyarchuk. Boris A.. Derenko. Miroslava V.. Perkova. Maria A.. Bednarek. Jarosław. Woźniak. Marcin. 2007. 10.1016/j.fsigen.2007.01.010. Complex interactions of the Eastern and Western Slavic populations with other European groups as revealed by mitochondrial DNA analysis. Forensic Science International. Genetics. 1. 2. 141–147. 19083745.
  9. 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. Martin B.. Richards . A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages . 8 October 2013 . Nature Communications . 4 . Supplementary Data 3 . 10.1038/ncomms3543 . 24104924 . 3806353 . 2013NatCo...4.2543C . 10216/109253 . free .
  10. Raule. 2014. Nicola. Sevini. Federica. Li. Shengting. Barbieri. Annalaura. Tallaro. Federica. Lomartire. Laura. Vianello. Dario. Montesanto. Alberto. etal. The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific. Aging Cell. 13. 3. 401–407. 10.1111/acel.12186 . 24341918. 4326891 .
  11. Skonieczna. Katarzyna. Malyarchuk. Boris. Jawień. Arkadiusz. Marszałek. Andrzej. Banaszkiewicz. Zbigniew. Jarmocik. Paweł. Borcz. Marcelina. Bała. Piotr. Grzybowski. Tomasz. 2015. 10.1016/j.fsigen.2014.10.021. Heteroplasmic substitutions in the entire mitochondrial genomes of human colon cells detected by ultra-deep 454 sequencing. Forensic Science International. Genetics. 15. 16–20. 25465762.
  12. Lee. W.T.Y.. Cain. J.E.. Cuddihy. A.. Johnson. J.. Dickinson. A.. Yeung. K-Y.. Kumar. B.. Johns. T.G.. Watkins. D.N.. Spencer. A.. St John. J.C.. 2016. 10.1038/cddiscovery.2016.16. Mitochondrial DNA plasticity is an essential inducer of tumorigenesis. Cell Death Discovery. 2. 16016. 27551510 . free. 4979526.
  13. Malyarchuk. Boris. Litvinov. Andrey. Derenko. Miroslava. Skonieczna. Katarzyna. Grzybowski. Tomasz. Grosheva. Aleksandra. Shneider. Yuri. Rychkov. Sergei. Zhukova. Olga. 2017. 10.1016/j.fsigen.2017.06.003. Mitogenomic diversity in Russians and Poles. Forensic Science International. Genetics. 30. 51–56. 28633069.
  14. Piotrowska-Nowak. Agnieszka. Elson. Joanna L.. Sobczyk-Kopciol. Agnieszka. Piwonska. Aleksandra. Puch-Walczak. Aleksandra. Drygas. Wojciech. Ploski. Rafal. Bartnik. Ewa. Tonska. Katarzyna. 2019. 10.3389/fgene.2018.00702. New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis. Frontiers in Genetics. 9. 702. 30671084. 6332467 . free.
  15. Taylor. Cassandra R.. Kiesler. Kevin M.. Sturk-Andreaggi. Kimberly. Ring. Joseph D.. Parson. Walther. Schanfield. Moses. Vallone. Peter M.. Marshall. Charla . Platinum-Quality Mitogenome Haplotypes from United States Populations . 2020-10-29 . Genes (Basel) . 11 . 11 . 1290 . 33138247 . 10.3390/genes11111290 . free. 7716222.
  16. Waldman . Shamam . Backenroth . Daniel . Harney . Éadaoin . Flohr . Stefan . Neff . Nadia C. . Buckley . Gina M. . Fridman . Hila . Akbari . Ali . Rohland . Nadin . Mallick . Swapan . Olalde . Iñigo . Cooper . Leo . Lomes . Ariel . Lipson . Joshua . Cano Nistal . Jorge . Yu . Jin . Barzilai . Nir . Peter . Inga . Atzmon . Gil . Ostrer . Harry . Lencz . Todd . Maruvka . Yosef E. . Lämmerhirt . Maike . Beider . Alexander . Rutgers . Leonard V. . Renson . Virginie . Prufer . Keith M. . Schiffels . Stephan . Ringbauer . Harald . Sczech . Karin . Carmi . Shai . Reich . David . 2022-12-08 . Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century . Cell . en . 185 . 25 . Data S2, Table 1 . 10.1016/j.cell.2022.11.002 . 36455558 . 9793425 . 0092-8674. 10810/59534 . free .
  17. Book: Gates Jr., Henry Louis. 18. 2015. Finding Your Roots: The Official Companion to the PBS Series. The University of North Carolina Press.
  18. Nadine Epstein . September–October 2012 . The Moment Magazine Great DNA Experiment . 44 . Moment Magazine . 2024-01-27.
  19. Book: Gessen, Masha. 55. 2008. Blood Matters: From BRCA1 to Designer Babies, How the World and I Found Ourselves in the Future of the Gene. Houghton Mifflin Harcourt.
  20. Book: Koval, Ramona. 183. 2015. Bloodhound: Searching For My Father. Text Publishing.