Haplogroup K1a1b1a (mtDNA)
Encyclopedia
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
.
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.
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 haplogroup is distributed in Europe and the Middle East. 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, some connection has been established between the K1a1b1a subclade and Jewish ancestry.
Version 3 of van Oven's Phylotree 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.
It may be recognized in hypervariable only samples by essential mutations:
Human mitochondrial genetics
Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
, Haplogroup K1a1b1a is a human mitochondrial DNA (mtDNA) haplogroup.
The K1a1b1a subclade is found in Ashkenazi Jews
Ashkenazi Jews
Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim , are the Jews descended from the medieval Jewish communities along the Rhine in Germany from Alsace in the south to the Rhineland in the north. Ashkenaz is the medieval Hebrew name for this region and thus for Germany...
. It is a subclade under Haplogroup K
Haplogroup K (mtDNA)
In human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA haplogroup, defined by HVR1 mutations 16224C and 16311C.-Origin:It is the most common subclade of haplogroup U8, and it has an estimated age of c. 12,000 years BP....
.
Origin
The origin of the subclade is unknown but it is speculated that it might have its origin in EuropeEurope
Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...
or the Middle East
Middle East
The Middle East is a region that encompasses Western Asia and Northern Africa. It is often used as a synonym for Near East, in opposition to Far 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.
Distribution
It is hypothesized that the subclade represents one of four major founding maternal lineages ("founding mothers") of Ashkenazi JewsAshkenazi Jews
Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim , are the Jews descended from the medieval Jewish communities along the Rhine in Germany from Alsace in the south to the Rhineland in the north. Ashkenaz is the medieval Hebrew name for this region and thus for Germany...
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 haplogroup is distributed in Europe and the Middle East. Estimates suggest approximately 1,600,000 Jews worldwide would be K1a1b1a.
The recently evolving field of genetic genealogy
Genealogy
Genealogy is the study of families and the tracing of their lineages and history. Genealogists use oral traditions, historical records, genetic analysis, and other records to obtain information about a family and to demonstrate kinship and pedigrees of its members...
and DNA sequencing
DNA sequencing
DNA sequencing includes several methods and technologies that are used for determining the order of the nucleotide bases—adenine, guanine, cytosine, and thymine—in a molecule of DNA....
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, some connection has been established between the K1a1b1a subclade and Jewish ancestry.
Version 3 of van Oven's Phylotree defines K1a1b1a by the highly polymorphic 114 in the second hypervariable region
Hypervariable region
A hypervariable region is a location within nuclear DNA or the D-loop of mitochondrial DNA in which base pairs of nucleotides repeat or have substitutions...
, 10978 and 12954 in the coding region, and 16234 in the first hypervariable region. This is supported by a growing number of Genbank
GenBank
The GenBank sequence database is an open access, annotated collection of all publicly available nucleotide sequences and their protein translations. This database is produced and maintained by the National Center for Biotechnology Information as part of the International Nucleotide Sequence...
samples.
| Genbank ID | Origin | Ethnicity | Author |
|---|---|---|---|
| FJ228404 | Falticeni, Romania | Ashkenazi | Greenspan,B. (FTDNA FamilyTreeDNA Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples... ) |
| EU926147 | USA | Jewish | Greenspan,B. (FTDNA FamilyTreeDNA Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples... ) |
| EU523126 | U/N | U/N | Greenspan,B. (FTDNA FamilyTreeDNA Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples... ) |
| EU327782 | Zitomer, Ukraine | Ukrainian | Greenspan,B. (FTDNA FamilyTreeDNA Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples... ) |
| EU259709 | U/N | U/N | Greenspan,B. (FTDNA FamilyTreeDNA Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples... ) |
| EU170362 | U/N | U/N | Greenspan,B. (FTDNA FamilyTreeDNA Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples... ) |
| EU052292 | U/N | U/N | Greenspan,B. (FTDNA FamilyTreeDNA Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples... ) |
| EU862197 | USA | European | Greenspan,B. (FTDNA FamilyTreeDNA Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples... ) |
| 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
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 and subsequent published research.- K1a1b1 11470
- K1a1b1a (114) 10978 12954 16234
- K1a1b1b 2483
See also
- Genealogical DNA testGenealogical DNA testA genealogical DNA test examines the nucleotides at specific locations on a person's DNA for genetic genealogy purposes. The test results are not meant to have any informative medical value and do not determine specific genetic diseases or disorders ; they are intended only to give genealogical...
- Genetic GenealogyGenetic genealogyGenetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
- Human mitochondrial geneticsHuman mitochondrial geneticsHuman mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
- Population GeneticsPopulation geneticsPopulation genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
- Human mitochondrial DNA haplogroupsHuman mitochondrial DNA haplogroupsIn human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree...
External links
- General
- Ian Logan's Mitochondrial DNA Site
- Mannis van Oven's Phylotree
- Charles Kerchner's mtDNA Haplogroups Page
- Haplogroup K
- mtDNA Haplogroup K Project at Family Tree DNAFamilyTreeDNAFamily Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...
- mtDNA Haplogroup K Project at Family Tree DNA