Haplogroup K1a1b1a (mtDNA)

Last updated
Haplogroup K1a1b1a
Possible time of origin4,800 ± 3,600 Years Ago
Possible place of originEurope
Ancestor K1a1b1
Defining mutationsA10978G T12954C C16234T [1]

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

Contents

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 for Ötzi. 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, [1] 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, [2] 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 [2] [5] along with Baghdadi Jews from India [5] 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 IDOriginEthnicityAuthor(s)
DQ301789 U/NAshkenazi [9] Behar, D. et al.
DQ301795 U/NAshkenazi [9] Behar, D. et al.
DQ301802 U/NAshkenazi [9] Behar, D. et al.
DQ301803 U/NAshkenazi [9] Behar, D. et al.
DQ301805 U/NAshkenazi [9] Behar, D. et al.
DQ301813 U/NAshkenazi [9] Behar, D. et al.
EU052292 U/NU/NGreenspan,B. (FTDNA)
EU170362 U/NU/NGreenspan,B. (FTDNA)
EU259709 U/NU/NGreenspan,B. (FTDNA)
EU327782 Zhitomir, UkraineUkrainianGreenspan,B. (FTDNA)
EU523126 U/NU/NGreenspan,B. (FTDNA)
EU862197 USAEuropeanGreenspan,B. (FTDNA)
EU926147 USAJewishGreenspan,B. (FTDNA)
FJ228404 Fălticeni, RomaniaAshkenaziGreenspan,B. (FTDNA)
FJ938288 Brest, Belarus AshkenaziGreenspan,B. (FTDNA)
GU320192 USARomanianGreenspan,B. (FTDNA)
GU571200 Frankfurt am Main, GermanyAshkenaziGreenspan,B. (FTDNA)
GU585492 U/NU/NGreenspan,B. (FTDNA)
GU722599 Bonn, GermanyAshkenaziGreenspan,B. (FTDNA)
GU723693 USAAshkenaziGreenspan,B. (FTDNA)
HM101136 USAU/NGreenspan,B. (FTDNA)
HQ667591 Budapest, HungaryAshkenaziGreenspan,B. (FTDNA)
HQ901176 USAJewishGreenspan,B. (FTDNA)
JN990448 USAAshkenaziGreenspan,B. (FTDNA)
JQ702155 Hungary [9] U/NBehar, D. et al.
JQ702245 U/NU/NBehar, D. et al.
JQ702671 UkraineAshkenazi [9] Behar, D. et al.
JQ702676 UzbekistanAshkenazi [9] Behar, D. et al.
JQ702755 Poland [9] U/NBehar, D. et al.
JQ702780 BelarusAshkenazi [9] Behar, D. et al.
JQ702859 Lithuania [9] U/NBehar, D. et al.
JQ702945 RussiaAshkenazi [9] Behar, D. et al.
JQ703012 RussiaAshkenazi [9] Behar, D. et al.
JQ703069 U/NAshkenazi [9] Behar, D. et al.
JQ703165 U/NU/NBehar, D. et al.
JQ703308 U/NU/NBehar, D. et al.
JQ703485 U/NU/NBehar, D. et al.
JQ703662 Ukraine [9] U/NBehar, D. et al.
JQ703855 Germany [9] U/NBehar, D. et al.
JQ704216 U/NU/NBehar, D. et al.
JQ704654 Germany [9] U/NBehar, D. et al.
JQ704812 U/NU/NBehar, D. et al.
JQ705016 PolandAshkenazi [9] Behar, D. et al.
JQ705204 Germany [9] U/NBehar, D. et al.
JQ705568 UkraineAshkenazi [9] Behar, D. et al.
JQ705628 UkraineAshkenazi [9] Behar, D. et al.
JQ705745 LithuaniaAshkenazi [9] Behar, D. et al.
JQ705951 U/NAshkenazi [9] Behar, D. et al.
JQ705979 U/NU/NBehar, D. et al.
JQ706006 U/NU/NBehar, D. et al.
JX153534 DenmarkU/NRaule,N. et al. [10]
KC878724 Campania, Italy [9] U/NCosta, M. et al.
KC914580 USAAshkenaziGreenspan,B. (FTDNA)
KF435080 USAJewishGreenspan,B. (FTDNA)
KM047228 PolandU/NSkonieczna,K. et al. [11]
KR491936 USAAshkenaziGreenspan,B. (FTDNA)
KT946594 Great Britain, UKU/NLee,W.T.Y. et al. [12]
KX350098 SpainU/NIglesias,E.
KY782247 PolandU/NMalyarchuk,B. et al. [13]
MH120573 PolandU/NPiotrowska-Nowak,A. et al. [14]
MH120671 PolandU/NPiotrowska-Nowak,A. et al. [14]
MN176259 PolandU/NPiotrowska-Nowak,A.
MZ386799 USAU/NTaylor,C.R. et al. [15]
MZ387869 USAU/NTaylor,C.R. et al. [15]
PP153372 Mumbai, India Baghdadi Jewish Brook,K.A. et al. [5]

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

Pre-Modern K1a1b1a Samples

Medieval Jews
IDOriginEthnicityPeriodAuthor(s)
I13861 Erfurt, GermanyAshkenazi Jewish (Erfurt-ME)14th centuryWaldman,S. et al. [16]
I13862 Erfurt, Germany West Knaanic Jewish (Erfurt-EU)14th centuryWaldman,S. et al. [16]
I13866 Erfurt, Germany West Knaanic Jewish (Erfurt-EU)14th centuryWaldman,S. et al. [16]
I13867 Erfurt, GermanyAshkenazi Jewish (Erfurt-ME)14th centuryWaldman,S. et al. [16]
I13870 Erfurt, GermanyAshkenazi Jewish (Erfurt-ME)14th centuryWaldman,S. et al. [16]
I14736 Erfurt, GermanyAshkenazi Jewish (Erfurt-ME)14th centuryWaldman,S. et al. [16]
I14741 Erfurt, GermanyAshkenazi Jewish (Erfurt-ME)14th centuryWaldman,S. et al. [16]
I14846 Erfurt, GermanyJewish14th centuryWaldman,S. et al. [16]
I14851 Erfurt, GermanyAshkenazi Jewish (Erfurt-ME)14th centuryWaldman,S. et al. [16]
I14899 Erfurt, GermanyJewish14th centuryWaldman,S. et al. [16]
I14903 Erfurt, GermanyAshkenazi Jewish (Erfurt-ME)14th centuryWaldman,S. et al. [16]

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 [1] 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
HV JT K
H V J T

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<span class="mw-page-title-main">Haplogroup J (Y-DNA)</span> Human Y-chromosome DNA haplogroup

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<span class="mw-page-title-main">Haplogroup C (mtDNA)</span>

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References

  1. 1 2 3 van Oven M, Kayser M (Feb 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi: 10.1002/humu.20921 . PMID   18853457. S2CID   27566749.
  2. 1 2 3 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 (Mar 2006). "The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event". American Journal of Human Genetics. 78 (3): 487–97. doi:10.1086/500307. PMC   1380291 . PMID   16404693.
  3. ↑ Hurst, William R. "mtDNA Haplogroup K: K1a1b1a Subclade Haplotypes". mtDNA Haplogroup K Project. Archived from the original (JPG) on 2015-11-22.
  4. ↑ Hurst, William R. "A history of the early days of this project". mtDNA Haplogroup K Project.
  5. 1 2 3 Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. p. 72. doi:10.2307/j.ctv33mgbcn. ISBN   978-1644699843. S2CID   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 (2016-01-13). "Genetic affinities of the Jewish populations of India". Scientific Reports. 6: 6, Supplementary Table 5. Bibcode:2016NatSR...619166C. doi:10.1038/srep19166. PMC   4725824 . PMID   26759184.
  7. ↑ Joana F. Ferragut; Cristian Ramon; Jose A. Castro; António Amorim; L. Alvarez; A. Picornell (8 December 2020). "Middle Eastern genetic legacy in the paternal and maternal gene pools of Chuetas". Scientific Reports. 10 (1): 21428. Bibcode:2020NatSR..1021428F. doi:10.1038/s41598-020-78487-9. PMC   7722846 . PMID   33293675.
  8. ↑ Grzybowski, Tomasz; Malyarchuk, Boris A.; Derenko, Miroslava V.; Perkova, Maria A.; Bednarek, Jarosław; Woźniak, Marcin (2007). "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. doi:10.1016/j.fsigen.2007.01.010. PMID   19083745.
  9. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 Costa, Marta D.; Pereira, Joana B.; Pala, Maria; Fernandes, Verónica; Olivieri, Anna; Achilli, Alessandro; Perego, Ugo A.; Rychkov, Sergei; Naumova, Oksana; Hatina, Jiři; Woodward, Scott R.; Eng, Ken Khong; Macaulay, Vincent; Carr, Martin; Soares, Pedro; Pereira, Luísa; Richards, Martin B. (8 October 2013). "A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages". Nature Communications. 4: Supplementary Data 3. Bibcode:2013NatCo...4.2543C. doi:10.1038/ncomms3543. hdl: 10216/109253 . PMC   3806353 . PMID   24104924.
  10. ↑ Raule, Nicola; Sevini, Federica; Li, Shengting; Barbieri, Annalaura; Tallaro, Federica; Lomartire, Laura; Vianello, Dario; Montesanto, Alberto; et al. (2014). "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. doi:10.1111/acel.12186. PMC   4326891 . PMID   24341918.
  11. ↑ Skonieczna, Katarzyna; Malyarchuk, Boris; Jawień, Arkadiusz; Marszałek, Andrzej; Banaszkiewicz, Zbigniew; Jarmocik, Paweł; Borcz, Marcelina; Bała, Piotr; Grzybowski, Tomasz (2015). "Heteroplasmic substitutions in the entire mitochondrial genomes of human colon cells detected by ultra-deep 454 sequencing". Forensic Science International. Genetics. 15: 16–20. doi:10.1016/j.fsigen.2014.10.021. PMID   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). "Mitochondrial DNA plasticity is an essential inducer of tumorigenesis". Cell Death Discovery. 2: 16016. doi: 10.1038/cddiscovery.2016.16 . PMC   4979526 . PMID   27551510.
  13. ↑ Malyarchuk, Boris; Litvinov, Andrey; Derenko, Miroslava; Skonieczna, Katarzyna; Grzybowski, Tomasz; Grosheva, Aleksandra; Shneider, Yuri; Rychkov, Sergei; Zhukova, Olga (2017). "Mitogenomic diversity in Russians and Poles". Forensic Science International. Genetics. 30: 51–56. doi:10.1016/j.fsigen.2017.06.003. PMID   28633069.
  14. 1 2 Piotrowska-Nowak, Agnieszka; Elson, Joanna L.; Sobczyk-Kopciol, Agnieszka; Piwonska, Aleksandra; Puch-Walczak, Aleksandra; Drygas, Wojciech; Ploski, Rafal; Bartnik, Ewa; Tonska, Katarzyna (2019). "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. doi: 10.3389/fgene.2018.00702 . PMC   6332467 . PMID   30671084.
  15. 1 2 Taylor, Cassandra R.; Kiesler, Kevin M.; Sturk-Andreaggi, Kimberly; Ring, Joseph D.; Parson, Walther; Schanfield, Moses; Vallone, Peter M.; Marshall, Charla (2020-10-29). "Platinum-Quality Mitogenome Haplotypes from United States Populations". Genes (Basel). 11 (11): 1290. doi: 10.3390/genes11111290 . PMC   7716222 . PMID   33138247.
  16. 1 2 3 4 5 6 7 8 9 10 11 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. 185 (25): Data S2, Table 1. doi:10.1016/j.cell.2022.11.002. hdl: 10810/59534 . ISSN   0092-8674. PMC   9793425 . PMID   36455558.
  17. ↑ Gates Jr., Henry Louis (2015). Finding Your Roots: The Official Companion to the PBS Series. The University of North Carolina Press. p. 18.
  18. ↑ Nadine Epstein (September–October 2012). "The Moment Magazine Great DNA Experiment". Moment Magazine. p. 44. Retrieved 2024-01-27.
  19. ↑ Gessen, Masha (2008). Blood Matters: From BRCA1 to Designer Babies, How the World and I Found Ourselves in the Future of the Gene. Houghton Mifflin Harcourt. p. 55.
  20. ↑ Koval, Ramona (2015). Bloodhound: Searching For My Father. Text Publishing. p. 183.
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