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 Society's Genographic Project, K1a1b1a has an unknown origin. Its website has 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.

By the time of Build 17, released on February 18, 2016, van Oven's phylogenetic tree PhyloTree 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. 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. 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, 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, 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 along with Baghdadi Jews from India and Paradesi Jews from India. It is also present among the Xueta people of Spain. 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 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 ID Origin Ethnicity Author(s) DQ301789 U/N Ashkenazi Behar, D. et al. DQ301795 U/N Ashkenazi Behar, D. et al. DQ301802 U/N Ashkenazi Behar, D. et al. DQ301803 U/N Ashkenazi Behar, D. et al. DQ301805 U/N Ashkenazi Behar, D. et al. DQ301813 U/N Ashkenazi 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 Pruzhany, Belarus Ashkenazi 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 Kraków, Poland Ashkenazi Greenspan, B. (FTDNA) HM101136 Netherlands Ashkenazi Greenspan, B. (FTDNA) HQ667591 Budapest, Hungary Ashkenazi Greenspan, B. (FTDNA) HQ901176 USA Jewish Greenspan, B. (FTDNA) JN990448 USA Ashkenazi Greenspan, B. (FTDNA) JQ702155 Hungary U/N Behar, D. et al. JQ702245 U/N U/N Behar, D. et al. JQ702671 Ukraine Ashkenazi Behar, D. et al. JQ702676 Uzbekistan Ashkenazi Behar, D. et al. JQ702755 Poland U/N Behar, D. et al. JQ702780 Belarus Ashkenazi Behar, D. et al. JQ702859 Lithuania U/N Behar, D. et al. JQ702945 Russia Ashkenazi Behar, D. et al. JQ703012 Russia Ashkenazi Behar, D. et al. JQ703069 U/N Ashkenazi 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 U/N Behar, D. et al. JQ703855 Germany U/N Behar, D. et al. JQ704216 U/N U/N Behar, D. et al. JQ704654 Germany U/N Behar, D. et al. JQ704812 U/N U/N Behar, D. et al. JQ705016 Poland Ashkenazi Behar, D. et al. JQ705204 Germany U/N Behar, D. et al. JQ705568 Ukraine Ashkenazi Behar, D. et al. JQ705628 Ukraine Ashkenazi Behar, D. et al. JQ705745 Lithuania Ashkenazi Behar, D. et al. JQ705951 U/N Ashkenazi 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. KC878724 Campania, Italy 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. KR491936 USA Ashkenazi Greenspan, B. (FTDNA) KT946594 Great Britain, UK U/N Lee, W.T.Y. et al. KX350098 Spain U/N Iglesias, E. KY782247 Poland U/N Malyarchuk, B. et al. MH120573 Poland U/N Piotrowska-Nowak, A. et al. MH120671 Poland U/N Piotrowska-Nowak, A. et al. MN176259 Poland U/N Piotrowska-Nowak, A. MZ386799 USA U/N Taylor, C.R. et al. MZ387869 USA U/N Taylor, C.R. et al. OL638845 Brazil U/N Speransa, P.A. et al. PP153372 Mumbai, India Baghdadi Jewish Brook, K.A. et al. PQ249398 Balta, Ukraine Ashkenazi Brook, K.A. et al. PQ435234 Staszów, Poland Ashkenazi Brook, K.A. et al. PV893137 Berezhnytsia, Ukraine Ashkenazi Brook, K.A. et al. PX114822 Romania Ashkenazi Brook, K.A. et al. PX238419 Kalvarija, Lithuania Ashkenazi Brook, K.A. et al. PX315730 Węgrów, Poland Ashkenazi Brook, K.A. et al. PX413589 Rotterdam, Netherlands Ashkenazi Brook, K.A. et al.

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. I13862 Erfurt, Germany West Knaanic Jewish (Erfurt-EU) 14th century Waldman, S. et al. I13866 Erfurt, Germany West Knaanic Jewish (Erfurt-EU) 14th century Waldman, S. et al. I13867 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman, S. et al. I13870 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman, S. et al. I14736 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman, S. et al. I14741 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman, S. et al. I14846 Erfurt, Germany Jewish 14th century Waldman, S. et al. I14851 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman, S. et al. I14899 Erfurt, Germany Jewish 14th century Waldman, S. et al. I14903 Erfurt, Germany Ashkenazi Jewish (Erfurt-ME) 14th century Waldman, S. et al. ROQ12 Tàrrega, Spain Catalonian Jew 14th century Pallarés-Viña, L. et al.

Notable individuals with Haplogroup K1a1b1a Singer and pianist Harry Connick Jr. Actress and singer Tovah Feldshuh Novelist and journalist Keith Gessen Broadcaster and journalist Ramona Koval Businessman and author Seth Godin Futurist Donald Prell

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 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 Genealogical DNA test Genetic Genealogy Human mitochondrial genetics Population Genetics Human mitochondrial DNA haplogroups

References

External links PhyloTree Mitochondrial DNA Site's K1a1b1 page at ianlogan.co.uk K1a1b1a MTree at YFull.com Haplogroup K1a1b1a on mitoLEAF Classic Mitotree View: K1a1b1a on Family Tree DNA's Discover mtDNA Haplogroup K Project at Family Tree DNA The Genographic Project by National Geographic Society (archived)