Haplogroup K1a1b1a (mtDNA)

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Haplogroup K1a1b1a
Possible time of origin 1835 ± 821 years
Possible place of origin Europe
Ancestor K1a1b1
Descendants None at present
Defining mutations (114) 10978 12954 16234[1]

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

The K1a1b1a 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. Estimates of the age of K1a1b1a vary, depending on the mutation rates used. The age of K1a1b1a has been estimated at 1835 years before the present with a range of ± 821 years, according to the Genographic project.

This subclade is under the U'K haplogroup. Haplogroup K falls under the old U8 grouping, which is one of the oldest haplogroup in Europe. The Basque people of Spain and France fall under the U8a subclade. K1a1b1a is a U8b subclade, with several downstream variations. Newer mutations in the U'K group include K1a and K1a1b1, which are both thought to have originated in Italy.

Otzi the Iceman, a 5000 year old mummy, found in the Alps is haplogroup K. The Romani also can fall under the k1a1b1a subclade. The founding population for K1a1b1a is unknown at this time. It is interesting to note that Otzi has mtDNA marker 10978G in common with the Ashkenazi population and others who fall under the K1a1b1a subclade.

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 haplogroup is distributed in Europe and the Middle East.[3] 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,[2] some connection has been established between the K1a1b1a subclade and Jewish ancestry.

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.

Genbank Submissions
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 Zhitomir, 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

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.

  • K1a1b1 11470
    • K1a1b1a (114) 10978 12954 16234
    • K1a1b1b 2483

See also

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

References

  1. ^ 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. Retrieved 2009-05-20. 
  2. ^ 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. Retrieved 2009-05-08. 
  3. ^ Hurst, William. "mtDNA Haplogroup K: K1a1b1a Subclade Haplotypes" (JPG). mtDNA Haplogroup K Project. Retrieved 2009-05-08. 

External links