Biology:Haplogroup K1a1b1a (mtDNA)

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Haplogroup K1a1b1a
Possible time of origin4,800 ± 3,600 Years Ago
Possible place of originEurope
AncestorK1a1b1
Defining mutations(114) 10978 12954 16234[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 states, "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.

A new study and recent updates to the mtDNA tree uses three markers to define K1a1b1a, (114), 10978 and 16234. The marker 12954 along with the previous three markers mentioned, are used to define a new mtDNA subclade called K1a1b1a1.[2] This new group consists of people who are either Ashkenazi or of non Ashkenazi European ancestry.

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.[3] 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.[4] 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,[5] including those led by Behar and Brook. Accordingly, based on the research of Behar,[3] 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 Turkey and southeastern Europe[6] along with Baghdadi Jews from India [6] and Paradesi Jews from India.[7] It is also present among the Xueta people of Spain.[8] 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[9] is the result of introgression into a Romani population.

Version 3 of van Oven's Phylotree[1] defines K1a1b1a by the highly polymorphic 114 in the second hypervariable region, 10978 and 12954 in the coding region, and 16234 in the first hypervariable region. This is supported by a growing number of GenBank samples. However, 12954 is not needed to define K1a1b1a as of 2013 and as mentioned above, is used to define K1a1b1a1.[2]

GenBank Submissions
GenBank ID Origin Ethnicity Author(s)
DQ301789 U/N Ashkenazi[10] Behar, D. et al.
DQ301795 U/N Ashkenazi[10] Behar, D. et al.
DQ301802 U/N Ashkenazi[10] Behar, D. et al.
DQ301803 U/N Ashkenazi[10] Behar, D. et al.
DQ301805 U/N Ashkenazi[10] Behar, D. et al.
DQ301813 U/N Ashkenazi[10] 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 Brest, Belarus 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[10] U/N Behar, D. et al.
JQ702245 U/N U/N Behar, D. et al.
JQ702671 Ukraine Ashkenazi[10] Behar, D. et al.
JQ702676 Uzbekistan Ashkenazi[10] Behar, D. et al.
JQ702755 Poland[10] U/N Behar, D. et al.
JQ702780 Belarus Ashkenazi[10] Behar, D. et al.
JQ702859 Lithuania[10] U/N Behar, D. et al.
JQ702945 Russia Ashkenazi[10] Behar, D. et al.
JQ703012 Russia Ashkenazi[10] Behar, D. et al.
JQ703069 U/N Ashkenazi[10] 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[10] U/N Behar, D. et al.
JQ703855 Germany[10] U/N Behar, D. et al.
JQ704216 U/N U/N Behar, D. et al.
JQ704654 Germany[10] U/N Behar, D. et al.
JQ704812 U/N U/N Behar, D. et al.
JQ705016 Poland Ashkenazi[10] Behar, D. et al.
JQ705204 Germany[10] U/N Behar, D. et al.
JQ705568 Ukraine Ashkenazi[10] Behar, D. et al.
JQ705628 Ukraine Ashkenazi[10] Behar, D. et al.
JQ705745 Lithuania Ashkenazi[10] Behar, D. et al.
JQ705951 U/N Ashkenazi[10] 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.[11]
KC878724 Campania, Italy[10] U/N Costa, M. et al.
KC914580 USA Ashkenazi Greenspan,B. (FTDNA)
KM047228 Poland U/N Skonieczna,K. et al.[12]
KR491936 USA Ashkenazi Greenspan,B. (FTDNA)
KT946594 Great Britain, UK U/N Lee,W.T.Y. et al.[13]
KX350098 Spain U/N Iglesias,E.
KY782247 Poland U/N Malyarchuk,B. et al.[14]
MH120573 Poland U/N Piotrowska-Nowak,A. et al.[15]
MH120671 Poland U/N Piotrowska-Nowak,A. et al.[15]
MN176259 Poland U/N Piotrowska-Nowak,A.
MZ386799 USA U/N Taylor,C.R. et al.[16]
MZ387869 USA U/N Taylor,C.R. et al.[16]
PP153372 Mumbai , India Baghdadi Jewish Brook,K.A. et al.[6]

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

  • Hypervariable region 1: 16224C, 16234T, 16311C, 16519C
  • Hypervariable region 2: 073G, 263G, 315.1C, 497T

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.[17]
I13862 Erfurt, Germany West Knaanic Jewish (Erfurt-EU) 14th century Waldman,S. et al.[17]
I13866 Erfurt, Germany West Knaanic Jewish (Erfurt-EU) 14th century Waldman,S. et al.[17]
I13867 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.[17]
I13870 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.[17]
I14736 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.[17]
I14741 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.[17]
I14846 Erfurt, Germany Jewish 14th century Waldman,S. et al.[17]
I14851 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.[17]
I14899 Erfurt, Germany Jewish 14th century Waldman,S. et al.[17]
I14903 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman,S. et al.[17]

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. Newer research has further updated the phylogenetic tree of haplogroup K subclades.[2] However, the K1a1b1a1 subclade has yet to be approved and does not appear in the Build 17 PhyloTree as of February 18, 2016.

  • K1a1b1 11470G
  • K1a1b1a 10978G 12954C 16234T
  • K1a1b1b 593C 2483C
  • K1a1b1b1 789C 11620G
  • K1a1b1c 5585A 16222T
  • K1a1b1d 14388G 16092C 16223T
  • K1a1b1e 9932A
  • K1a1b1f 4823C 6528T 8842C
  • K1a1b1g 5583T 12007A

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

References

  1. ↑ 1.0 1.1 1.2 "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–94. Feb 2009. doi:10.1002/humu.20921. PMID 18853457. 
  2. ↑ 2.0 2.1 2.2 "A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages". Nat Commun 4: 2543. 2013. doi:10.1038/ncomms3543. PMID 24104924. Bibcode: 2013NatCo...4.2543C. 
  3. ↑ 3.0 3.1 "The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event". American Journal of Human Genetics 78 (3): 487–97. Mar 2006. doi:10.1086/500307. PMID 16404693. 
  4. ↑ Hurst, William R.. "mtDNA Haplogroup K: K1a1b1a Subclade Haplotypes" (JPG). mtDNA Haplogroup K Project. http://freepages.genealogy.rootsweb.ancestry.com/~wrhurst/mtdna-k/kpk1a1b1a.jpg. 
  5. ↑ Hurst, William R.. "A history of the early days of this project". mtDNA Haplogroup K Project. https://www.familytreedna.com/groups/mt-dna-k/about/background. 
  6. ↑ 6.0 6.1 6.2 Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. p. 72. doi:10.2307/j.ctv33mgbcn. ISBN 978-1644699843. 
  7. ↑ Chaubey, Gyaneshwer; Singh, Manvendra; Rai, Niraj; Kariappa, Mini; Singh, Kamayani; Singh, Ashish; Singh, Deepankar Pratap; Tamang, Rakesh et al. (2016-01-13). "Genetic affinities of the Jewish populations of India". Scientific Reports 6: 6, Supplementary Table 5. doi:10.1038/srep19166. PMID 26759184. Bibcode: 2016NatSR...619166C. 
  8. ↑ 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. doi:10.1038/s41598-020-78487-9. PMID 33293675. Bibcode: 2020NatSR..1021428F. 
  9. ↑ 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. 
  10. ↑ 10.00 10.01 10.02 10.03 10.04 10.05 10.06 10.07 10.08 10.09 10.10 10.11 10.12 10.13 10.14 10.15 10.16 10.17 10.18 10.19 10.20 10.21 10.22 10.23 10.24 Costa, Marta D. et al. (8 October 2013). "A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages". Nature Communications 4: Supplementary Data 3. doi:10.1038/ncomms3543. PMID 24104924. Bibcode: 2013NatCo...4.2543C. https://repositorio-aberto.up.pt/bitstream/10216/109253/5/Costa2013NatureCommunications-s4.xls. 
  11. ↑ Raule, Nicola 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. PMID 24341918. 
  12. ↑ Skonieczna, Katarzyna; Malyarchuk, Boris; Jawień, Arkadiusz; Marszałek, Andrzej; Banaszkiewicz, Zbigniew; Jarmocik, Paweł; Borcz, Marcelina; Bała, Piotr et al. (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. 
  13. ↑ Lee, W.T.Y.; Cain, J.E.; Cuddihy, A.; Johnson, J.; Dickinson, A.; Yeung, K-Y.; Kumar, B.; Johns, T.G. et al. (2016). "Mitochondrial DNA plasticity is an essential inducer of tumorigenesis". Cell Death Discovery 2: 16016. doi:10.1038/cddiscovery.2016.16. PMID 27551510. 
  14. ↑ Malyarchuk, Boris; Litvinov, Andrey; Derenko, Miroslava; Skonieczna, Katarzyna; Grzybowski, Tomasz; Grosheva, Aleksandra; Shneider, Yuri; Rychkov, Sergei et al. (2017). "Mitogenomic diversity in Russians and Poles". Forensic Science International. Genetics 30: 51–56. doi:10.1016/j.fsigen.2017.06.003. PMID 28633069. 
  15. ↑ 15.0 15.1 Piotrowska-Nowak, Agnieszka; Elson, Joanna L.; Sobczyk-Kopciol, Agnieszka; Piwonska, Aleksandra; Puch-Walczak, Aleksandra; Drygas, Wojciech; Ploski, Rafal; Bartnik, Ewa et al. (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. PMID 30671084. 
  16. ↑ 16.0 16.1 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: 1290. doi:10.3390/genes11111290. PMID 33138247. 
  17. ↑ 17.00 17.01 17.02 17.03 17.04 17.05 17.06 17.07 17.08 17.09 17.10 Waldman, Shamam; Backenroth, Daniel; Harney, Éadaoin; Flohr, Stefan; Neff, Nadia C.; Buckley, Gina M.; Fridman, Hila; Akbari, Ali et al. (2022-12-08). "Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century" (in en). Cell 185 (25): Data S2, Table 1. doi:10.1016/j.cell.2022.11.002. ISSN 0092-8674. PMID 36455558. 
  18. ↑ Gates Jr., Henry Louis (2015). Finding Your Roots: The Official Companion to the PBS Series. The University of North Carolina Press. p. 18. 
  19. ↑ Nadine Epstein (September–October 2012). "The Moment Magazine Great DNA Experiment". Moment Magazine: 44. https://momentmag.com/the-moment-magazine-great-dna-experiment/. Retrieved 2024-01-27. 
  20. ↑ 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. 

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