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This project is a meeting place for users who share the H1bw Mitochondrial DNA haplogroup, which means they are related along their maternal lines. Users in this group may want to share their family trees with each other to find overlaps and merge duplicate profiles in order to join or expand the World Family Tree and discover new relatives.
Contents
- Introduction to Mitochondrial DNA
- About the mtDNA H1bw Haplotype
- A Deeper Tree Analysis
- Supporting Notes
- More Resources
Introduction to Mitochondrial DNA
Are you new to the use of mitochondrial DNA (mtDNA) in genetic genealogy? Need an introduction? Here are some links that can help:
- Mitochondrial DNA tests, at the ISOGG WIki
- Understanding mitochondrial DNA testing, by Steve Handy
- DNA testing for genealogy: Mitochondrial DNA, by CeCe Moore
- Intro to mitochondrial DNA for genealogy, Video presentation, by Maurice Gleeson
- H1 mtDNA haplotype @ Wikipedia
- H mtDNA haplotype @ euPedia There is additional introductory and background material below, under "Supporting Notes."
About the mtDNA H1bw Haplotype
The H1bw mitochondrial DNA haplotype is a branch of the H1 mtDNA haplotype, so all people who are H1bw are also in the H1 haplogroup. H1bw was established -- i.e. the defining mutation appeared -- roughly 6000 years ago (source). That defining mutation is named "C8478T" which means that in the mtDNA sequence at position 8478, the "C" has been mutated to a "T" in people who've inherited this particular mtDNA variant. There is currently too little data about H1bw to estimate the geographical location where it originated. However, the modern distribution of people in the parent H1 haplogroup is primarily within Europe and Northern Africa, so H1bw most likely originated in this region.
The H1bw haplotype was first characterized in a genetics research paper, Behar et al (2012), and is defined by these mutations, listed cumulatively since "mitochondrial Eve" (as documented at the RSRS mtDNA Community haplotype tree). HVR1 mutations are in bold and HVR2 mutations are in bold italic:
RSRS ("mitochondrial Eve")
↳L1'2'3'4'5'6 = C146T, C182T, T4312C, T10664C, C10915T, A11914G, G13276A, G16230A
↳L2'3'4'5'6 = C152T, A2758G, C2885T, G7146A, T8468C
↳L2'3'4'6 = C195T, A247G, A825T, T8655C, A10688G, C10810T, G13105A, T13506C, G15301A, A16129G, T16187C, C16189T
↳L3'4'6 = G4104A, A7521G
↳L3'4 = T3594C, T7256C, T13650C, T16278C
↳L3 = A769G, A1018G, C16311T
↳N = G8701A, C9540T, G10398A, C10873T
↳R = T12705C, T16223C
↳R0 = G73A, A11719G
↳HV = T14766C
↳H = G2706A, T7028C
↳H1 = G3010A
↳H1bw = C8478T
Written in breadcrumb path format, this is: "mitochrondrial Eve" RSRS > C146T, C182T, T4312C, T10664C, C10915T, A11914G, G13276A, G16230A = L1’2’3’4’5’6 > C152T, A2758G, C2885T, G7146A, T8468C = L2’3’4’5’6 > C195T, A247G, A825t, T8655C, A10688G, C10810T, G13105A, T13506C, G15301A, A16129G, T16187C, C16189T = L2’3’4’6 > G4104A, A7521G = L3’4’6 > T182C!, T3594C, T7256C, T13650C, T16278C = L3’4 > A769G, A1018G, C16311T = L3 > G8701A C9540T G10398A C10873T A15301G! = N > T12705C, T16223C = R > G73A, A11719G = R0 > T14766C = HV > G2706A, T7028C = H > G3010A = H1 > C8478T = H1bw
The breadcrumb path from the rCRS mtDNA reference to H1bw is: H2a2a1(rCRS) > 263G = H2a2a > 8860G, 15326G = H2a2 > 750G = H2a > 4769G = H2 > 1438G = H > 3010A = H1 > 8478T = H1bw
If you have the H1bw mitochondrial haplotype, as determined by testing at Family Tree DNA, you should consider joining the mtDNA Haplotype H Project there in order to help us conduct deeper research into the history of this haplotype. With enough participants we can, for example, use so-called "private mutations" to determine the most likely tree branch structure (i.e. history of cumulative mutations) within the H1bw haplogroup itself after it was established.
If you have done a complete sequencing of your mtDNA, you may also consider adding the data to the mtDNA Community website established by the authors of the research paper behind the RSRS. NOTE: As of Oct 2016, the automatic Family Tree DNA upload process may not be working (error is "The request failed with an empty response.").
A Deeper Tree Analysis
"Private mutations" (aka "extra mutations") are mutations that happened after the H1bw founding, and can be used to define further branches within the haplogroup. The branch labels given below specify the mutation or mutations that define the branch -- everyone on branches below it also has that mutation. An identifier for the person or people identified with those mutations is given in parentheses.
- C8478T = H1bw
This data comes from the results of the mtDNA-H1 project at ftDNA & the mtDNA phylogeny results at mtDNA Community. If you wish to help expand this tree with more detail, please join one or both of these research projects.
Supporting Notes
Haplotype or Haplogroup. A haplotype is set of genes or mutations in genes that are inherited together, typically named by a defining gene or marker in the set. Because gene mutations arise cumulatively in a lineage, the final mutation in a particular lineage implies the presence of all the ones appearing earlier to it. A haplogroup, as the term is used in genetic genealogy, is the group of all people who inherited and carry that haplotype. The same label is used to define both, so the "H1bw haplotype" defines who is in the "H1bw haplogroup."
HVR1 & HVR2. The two hypervariable regions on the mitochondrial chromosome show higher mutation rates than the rest of the mtDNA. However, it is still a very, very low mutation rate compared to autosomal DNA. HVR1 runs from nucleotide 16001 to nucleotide 16569, and HVR2 runs from nucleotide 00001 to nucleotide 00574. Because most of the mutations that define H1bw are not within those two regions, only full mitochondrial sequencing can definitively place a person in the H1bw haplogroup. HVR1+HVR2 sequencing alone can typically only generate a prediction for a person's major haplogroup (e.g. "H").
RSRS or rCRS. The RSRS and rCRS are standardized mitochondrial DNA (mtDNA) sequences that are used as common references for comparing with other mtDNA sequences. By using a reference sequence, other mtDNA sequences can then be described more simply by just a list of the differences vs. the reference sequence, instead of by their whole sequence.
The "RSRS" is the Reconstructed Sapiens Reference Sequence, was introduced in 2012, and is generally considered the current, superior standard. The "rCRS" is the Revised Cambridge Reference Sequence and was the major human mtDNA reference sequence for many years, but generally has been superseded by the RSRS.
The RSRS keeps the same numbering system as the rCRS, but represents the ancestral genome of Mitochondrial Eve, from which all currently known human mitochondria descend. RSRS mutations are usually named as a letter (the "ancestral" value, from the reference sequence) followed by a number (the location) followed by a letter (the mutated or "derived" value). rCRS mutations are usually presented as a number followed by a letter (the derived value), without the ancestral value prefixed. Mutation names like "309.1C" indicate a DNA insertion of one "C" at location 309.
The Mitosearch database uses rCRS values, and therefore does not easily lend itself to the type of tree/breadcrumb display used above. To compare rCRS mutations to the ones listed above, you must first convert the rCRS results to RSRS format.
More Resources
- H1 mtDNA haplotype @ Wikipedia
- H mtDNA haplotype @ euPedia
- How rare am I?
- H1 mtDNA haplotype project @ FamilyTreeDNA.com
- mtDNA-H1bw @ haplogroup.org
- RSRS mtDNA Community haplotype tree
- phyloTree mt
- mitoMAP (uses rCRS)
- MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium
- EMPOP mtDNA database
- Haplofind mtDNA analysis (uses rCRS)
- mtDNA @ UCSC Genome Browser
- RSRS research paper: Behar, D.M., van Oven, M., Rosset, S., Metspalu, M., Loogväli, E.-L., Silva, N.M., Kivisild, T., Torroni, A., Villems, R. (2012). A “Copernican” reassessment of the human mitochondrial DNA tree from its root. American Journal of Human Genetics 90(4):675–684. [DOI: 10.1016/j.ajhg.2012.03.002]. Note: The H1bw haplotype was first defined in this paper, which was also the paper in which the new RSRS reference sequence was defined.
- Phylotree.org research paper: van Oven M, Kayser M. 2009. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Human Mutation 30(2):E386-E394.