Haplogroup K1a1b1a (mtDNA)
| Haplogroup K1a1b1a | |
|---|---|
| Possible time of origin | 4,800 ± 3,600 Years Ago |
| Possible place of origin | Europe |
| Ancestor | K1a1b1 |
| Defining 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
[edit]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,[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
[edit]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 ID | Origin | Ethnicity | Author(s) |
|---|---|---|---|
| DQ301789 | U/N | Ashkenazi[9] | Behar, D. et al. |
| DQ301795 | U/N | Ashkenazi[9] | Behar, D. et al. |
| DQ301802 | U/N | Ashkenazi[9] | Behar, D. et al. |
| DQ301803 | U/N | Ashkenazi[9] | Behar, D. et al. |
| DQ301805 | U/N | Ashkenazi[9] | Behar, D. et al. |
| DQ301813 | U/N | Ashkenazi[9] | 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[9] | U/N | Behar, D. et al. |
| JQ702245 | U/N | U/N | Behar, D. et al. |
| JQ702671 | Ukraine | Ashkenazi[9] | Behar, D. et al. |
| JQ702676 | Uzbekistan | Ashkenazi[9] | Behar, D. et al. |
| JQ702755 | Poland[9] | U/N | Behar, D. et al. |
| JQ702780 | Belarus | Ashkenazi[9] | Behar, D. et al. |
| JQ702859 | Lithuania[9] | U/N | Behar, D. et al. |
| JQ702945 | Russia | Ashkenazi[9] | Behar, D. et al. |
| JQ703012 | Russia | Ashkenazi[9] | Behar, D. et al. |
| JQ703069 | U/N | Ashkenazi[9] | 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[9] | U/N | Behar, D. et al. |
| JQ703855 | Germany[9] | U/N | Behar, D. et al. |
| JQ704216 | U/N | U/N | Behar, D. et al. |
| JQ704654 | Germany[9] | U/N | Behar, D. et al. |
| JQ704812 | U/N | U/N | Behar, D. et al. |
| JQ705016 | Poland | Ashkenazi[9] | Behar, D. et al. |
| JQ705204 | Germany[9] | U/N | Behar, D. et al. |
| JQ705568 | Ukraine | Ashkenazi[9] | Behar, D. et al. |
| JQ705628 | Ukraine | Ashkenazi[9] | Behar, D. et al. |
| JQ705745 | Lithuania | Ashkenazi[9] | Behar, D. et al. |
| JQ705951 | U/N | Ashkenazi[9] | 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[9] | 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.[14] |
| 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.[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:
- Hypervariable region 1: 16224C, 16234T, 16311C, 16519C
- Hypervariable region 2: 073G, 263G, 315.1C, 497T
Pre-Modern K1a1b1a Samples
[edit]| 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.[16] |
| I13866 | Erfurt, Germany | West Knaanic Jewish (Erfurt-EU) | 14th century | Waldman,S. et al.[16] |
| I13867 | Erfurt, Germany | Ashkenazi Jewish (Erfurt-ME) | 14th century | Waldman,S. et al.[16] |
| I13870 | Erfurt, Germany | Ashkenazi Jewish (Erfurt-ME) | 14th century | Waldman,S. et al.[16] |
| I14736 | Erfurt, Germany | Ashkenazi Jewish (Erfurt-ME) | 14th century | Waldman,S. et al.[16] |
| I14741 | Erfurt, Germany | Ashkenazi Jewish (Erfurt-ME) | 14th century | Waldman,S. et al.[16] |
| I14846 | Erfurt, Germany | Jewish | 14th century | Waldman,S. et al.[16] |
| I14851 | Erfurt, Germany | Ashkenazi Jewish (Erfurt-ME) | 14th century | Waldman,S. et al.[16] |
| I14899 | Erfurt, Germany | Jewish | 14th century | Waldman,S. et al.[16] |
| I14903 | Erfurt, Germany | Ashkenazi Jewish (Erfurt-ME) | 14th century | Waldman,S. et al.[16] |
Notable individuals with Haplogroup K1a1b1a
[edit]- Singer and pianist Harry Connick Jr.[17]
- Actress and singer Tovah Feldshuh[18]
- Novelist and journalist Keith A. Gessen[19]
- Broadcaster and journalist Ramona Koval[20]
- Futurist Donald Prell[citation needed]
Subclades
[edit]Tree
[edit]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.
- 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
[edit]- Genealogical DNA test
- Genetic Genealogy
- Human mitochondrial genetics
- Population Genetics
- Human mitochondrial DNA haplogroups
|
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
[edit]- ^ a b c 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.
- ^ a b c 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.
- ^ Hurst, William R. "mtDNA Haplogroup K: K1a1b1a Subclade Haplotypes". mtDNA Haplogroup K Project. Archived from the original (JPG) on 2015-11-22.
- ^ Hurst, William R. "A history of the early days of this project". mtDNA Haplogroup K Project.
- ^ a b c 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ a b c d e f g h i j k l m n o p q r s t u v w x y 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ a b 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.
- ^ a b 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.
- ^ a b c d e f g h i j k 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.
- ^ Gates Jr., Henry Louis (2015). Finding Your Roots: The Official Companion to the PBS Series. The University of North Carolina Press. p. 18.
- ^ Nadine Epstein (September–October 2012). "The Moment Magazine Great DNA Experiment". Moment Magazine. p. 44. Retrieved 2024-01-27.
- ^ 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.
- ^ Koval, Ramona (2015). Bloodhound: Searching For My Father. Text Publishing. p. 183.
External links
[edit]- Websites
- Mannis van Oven's PhyloTree [1]
- Ian Logan's Mitochondrial DNA Site's K1a1b1 Page
- YFull's K1a1b1a MTree
- mtDNA Haplogroup K Project at Family Tree DNA
- The Genographic Project by National Geographic