Haplogroup K1a1b1a (mtDNA)
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| Haplogroup K1a1b1a | |
| Possible time of origin | 3976 YBP (0-9366)[1] |
| Possible place of origin | |
| Ancestor | K1a1b1 |
| Defining mutations | (114) 10978 12954 16234[2] |
In human mitochondrial genetics, Haplogroup K1a1b1a is a human mitochondrial DNA (mtDNA) haplogroup.
The K1a1b1a subclade is found in Ashkenazi Jews. It is a subclade under Haplogroup K.
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[edit] Origin
The origin of the subclade is unknown but it is speculated that it might have its origin in Europe or the Middle East. Estimates of the age of the subclade vary, depending on the mutation rates used. The age of the k1a1b1a subclade has been estimated at 3976 years before the present (YBP) with a confidence interval range of between 0 and 9366 years before present.[1]
[edit] Distribution
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 haplogroup is distributed in Europe and the Middle East.[4] Estimates suggest approximately 1,600,000 Jews worldwide would be K1a1b1a.
The recently evolving field of genetic genealogy and DNA sequencing has permitted people of unknown ancestry to make use of DNA testing to establish some evidence for their ancestral origins. Accordingly, based on the research of Behar,[3] some connection has been established between the K1a1b1a subclade and Jewish ancestry.
Version 3 of van Oven's Phylotree[2] 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.
| Genbank ID | Origin | Ethnicity | Author |
|---|---|---|---|
| FJ228404 | Falticeni, Romania | Ashkenazi | Greenspan,B. (FTDNA) |
| EU926147 | USA | Jewish | Greenspan,B. (FTDNA) |
| EU523126 | U/N | U/N | Greenspan,B. (FTDNA) |
| EU327782 | Zitomer, Ukraine | Ukrainian | Greenspan,B. (FTDNA) |
| EU259709 | U/N | U/N | Greenspan,B. (FTDNA) |
| EU170362 | U/N | U/N | Greenspan,B. (FTDNA) |
| EU052292 | U/N | U/N | Greenspan,B. (FTDNA) |
| EU862197 | USA | European | Greenspan,B. (FTDNA) |
| DQ301803 | U/N | U/N | Behar, D. |
It may be recognized in hypervariable only samples by essential mutations:
- Hypervariable region 1: 16224C, 16234T, 16311C, 16519C
- Hypervariable region 2: 073G, 263G, 315.1C, 497T
[edit] Subclades
[edit] Tree
This phylogenetic tree of haplogroup H subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[2] and subsequent published research.
- K1a1b1 11470
- K1a1b1a (114) 10978 12954 16234
- K1a1b1b 2483
[edit] See also
- Genealogical DNA test
- Genetic Genealogy
- Human mitochondrial genetics
- Population Genetics
- Human mitochondrial DNA haplogroups
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Evolutionary 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 | A | S | R | I | W | X | Y | |||||||||||||||||||||
| C | Z | B | F | R0 | pre-JT | P | U | |||||||||||||||||||||||||
| HV | JT | K | ||||||||||||||||||||||||||||||
| H | V | J | T | |||||||||||||||||||||||||||||
[edit] References
- ^ a b Behar, Doron; Ene Metspalu, Toomas Kivisild, Saharon Rosset, Shay Tzur, Yarin Hadid, Guennady Yudkovsky, Dror Rosengarten, Luisa Pereira, Antonio Amorim, Ildus Kutuev, David Gurwitz, Batsheva Bonne-Tamir, Richard Villems, Karl Skorecki (April 30, 2008). MacAulay, Vincent. ed. "Counting the Founders: The Matrilineal Genetic Ancestry" (PDF). PLoS ONE 3 (4): e2062. doi:10.1371/journal.pone.0002062. PMC 2323359. PMID 18446216. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0002062. Retrieved 2009-05-08.
- ^ a b c van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. http://www3.interscience.wiley.com/journal/121449735/abstract?CRETRY=1&SRETRY=0. Retrieved 2009-05-20.
- ^ a b Behar, Doron; Ene Metspalu, Toomas Kivisild, Alessandro Achilli, Yarin Hadid, Shay Tzur, Luisa Pereira, Antonio Amorim, Lluís Quintana-Murci, Kari Majamaa, Corinna Herrnstadt, Neil Howell, Oleg Balanovsky, Ildus Kutuev, Andrey Pshenichnov, David Gurwitz, Batsheva Bonne-Tamir, Antonio Torroni, Richard Villems, and Karl Skorecki (January 11, 2006). "The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event". American Journal of Human Genetics 78 (3): 487–497. doi:10.1086/500307. PMC 1380291. PMID 16404693. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1380291. Retrieved 2009-05-08.
- ^ Hurst, William. "mtDNA Haplogroup K: K1a1b1a Subclade Haplotypes" (JPG). mtDNA Haplogroup K Project. http://freepages.genealogy.rootsweb.ancestry.com/~wrhurst/mtdna-k/kpk1a1b1a.jpg. Retrieved 2009-05-08.
[edit] External links
- General
- Ian Logan's Mitochondrial DNA Site
- Mannis van Oven's Phylotree
- Charles Kerchner's mtDNA Haplogroups Page
- Haplogroup K
