mtDNA Tree

Swinging in the mtDNA Tree

In the Internet there are various charts and tables of information on the mtDNA Haplogroups. This information can be of detailed technical data and difficult to apply to genealogy. In order to better see how my family fits into the genealogy of Europe I have redrawn the charts in a way that adds time into the tree.

We all know that trees have their roots in the ground and the branches grow up and out. And that is the way I have drawn my trees, the trunk of the tree (which is the ancient past) is at the bottom of the page and the branches grow up and out. At the top of the chart are the people of the world today, you and me, and since the only mtDNA that is tested is of people of the recent past we will all be on the same level at the top of the page. Yes there are a few cases of mtDNA from teeth and bones old skeletons and mummies but I will ignore those. I started with published chart of mtDNA tree from page 3 of Ref. 1. It looks like this:

This is more than I needed so I trimmed the tree to be Haplogroup N [mostly European] and I rotated the tree with the trunk down and the branches up. Then I put a time scale in the vertical with TODAY at the top and 70,000 Years Before Present (YBP) at the bottom. I have used black circles to mark the approximate year when the "founding woman" of each group lived. If there is no black circle on a line I have not found an estimated time for that part of the mtDNA Tree.

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CRS

Toward the top of the chart there is a box CRS this is the Cambridge Reference Sequence. The CRS is the "standard" mtDNA sequence used to compare all other mtDNA samples. The person who's mtDNA was chosen as the reference is of Haplogroup H. This standard is not in the center of the Haplogroup H star but is out on one point. When one has their mtDNA tested the results will be reported as changes, called mutations, relative to the CRS. There are two types of test "course" which test the HVR1 section of your mtDNA and "fine" which tests both HVR1 and HVR2. The charts here have been made using the "fine" tests. I am in Haplogroup J and my report is this:
HVR1 haplogroup J, with mutations 16069T 16126C 16519C; HVR2 Mutations 73G 185A 228A 263G 295T 315.1C 462T 489C
There are some mutations that happen so often they are ignored. These sites are 303, 311, 315 and 16519
If these are a "usual" mutation the letter is left and we have this:
mtDNA mutations 16069 16126 73 185 228 263 295 462 489
The route on the chart below will start at the CRS then go down the tree from CRS to R (R is found toward the bottom middle of the page.) From R go right up the tree to JT then up to J.

This next chart adds in the mutations as found in Ref. 4.

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The mutations from CRS to J would be:

263 to move from CRS down (back in time) to H
[None] to move from H to HV
@73 to move from HV down to R - note these two mutations cover 60,000 years of human history
16126 will move up the tree from R to JT
16069, 489 and 205 will move up the tree to J - note these 4 mutations cover 40,000 years of human history.
The remaining three mutations, 185, 228 and 462, are part of the subdivision of J and can be seen in the J chart later.

So in going from CRS to the founding woman of Haplogroup J there are 6 mutations over a combined time of 100,000 years.
One would expect that the further away you are from CRS the more mutations you will see. This is true but only to a degree since the mutations are random and happen so slowly.

More Mutations

In this next chart I have added in the mutations from Ref. 5

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Haplogroups J and K

Because my parents were descendants of the women who founded Haplogroup J and Haplogroup K these have been expanded in more detail. The format is same, that is "today" is at the top, and the base of the tree is at the bottom. Over time we may get enough data to place a time on some of the mutations, but for now all we know is they happened between the time of the founder and today. There are very few samples that make up these charts so your results may not be included. These are redrawn from Refs. 4, 12 and 13. The chart was then expanded with data taken from mtbase.org. I have also added in haplotypes from various individuals as they have sent me their results.
The results shown in green are from the "French" study Ref. 13. While this study did test both HVR1 and HVR2 they did not test all of HVR2, they used only about half of HVR2 stopping at the value of 217. Thus there is some ambiguity as to where some of these values fit. The entries in blue are from the "Ashkenazi" study Ref 12. While this study has NO HVR2 data at all there is so much information and it could not be ignored. The major haplotypes from the study are placed as a best guess to match the current tree, the number of haplotypes reported by the study is included in the chart after the x. That is, x11, means the Ashkenazi study found this Haplotype 11 times.
The next addition to the J and K Haplogroup charts is shown in brown and comes from a German study in Ref. 15. This study had many more J haplotypes than K. But it did give a clue as to how K might be subdivied into K*, K1, and K2. Given the ambiguities I found in placing the haplotypes in the charts there may be some revisions needed in way the K network is structured. While the German data included HVR1 and HVR2 data they HVR2 stoped at 340. Thus it did not measure 497 which may be a major subdivision of K.

The J chart

To see this as a full page click here . [REMINDER: To get the latest version of the chart you may need to click the "Refresh" button after the chart is displayed.] Then use the "Back" button on your browser to return here.
For the J1 part of the chart click here .
Or for a Power Point version [70K bytes Note two pages] click here .
In this chart you can use the mutations 185, 228 and 462, from above to trace from J at the bottom to JSW at the top.
Note there is an exact match between JSW and the German data. In fact the German data found this haplotype five times in the population they sampled. The JSW genealogy traces this haplotype to London, England in 1830. There is no reason to believe that the family had been any other place other than in England for many years. However we do not know that for sure. In the case of the German data where we found the haplotype 5 times, thus it would be reasonable to assume it had also been in that area for possibly thousands of years. But again we do not know that.

The K chart

Other Haplogroups

You may wish to use the chart in Ref 4 (click here ) to trace your position in the mtDNA tree.
Or for the larger version click here (this is a 414 Kbytes image.)
Those interested in Haplogroup X might look at Ref. 9 page 239 ( pdf page 5)

Haplogroup Population Percentage

The listing below give the approximate percentage for the population for each Haplogoup. The pecent is for Europe unless noted as Native American (NA). See Ref. 11 for more detail on the locations within Europe.

A 42% NA
B 22% NA
C 18% NA
D 16% NA
F 4% Asia
H 39% Europe
H 52% England
I 5%
J 9%
K 8%
L 76% Africa
N1b Rare
R Rare
T 10%
U 11% Europe
U5b1 42% Sammi
V 5%
V 40% Sammi
W 2%
X 3% Europe
X 3% NA
Y
Z <1% [3% Saami]

Glossary

mtDNA: Mitochondrial DNA is DNA found in a mitochondrion.
CRS: Cambridge Reference Sequence, the standard used to report any differences (mutations) in HVR1 and HVR2
DNA: stands for deoxyribonucleic acid
HVR1: Hyper Variable Region 1 a small part of the mtDNA, 470 nucleotides (positions 16100 through 16569).
HVR2: Hyper Variable Region 2 a small part of the mtDNA, 290 nucleotides (positions 1 though 290).
NA: Native American

References

http://www.pnas.org/cgi/reprint/100/1/171.pdf
http://www.stats.ox.ac.uk/~macaulay/papers/richards_2000.pdf page 1258, 1266
http://www.census.gov/ipc/www/worldhis.html
http://www.journals.uchicago.edu/AJHG/journal/issues/v68n6/002593/002593.fg2.html [mutations shown in red]
http://www.stats.ox.ac.uk/~macaulay/founder2000/ag.html [mutations shown in blue]
MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2003 http://www.mitomap.org/cgi-bin/mitomap/tbl5gen.pl
http://www.tracegenetics.com/Malhi%20and%20Smith%202002.pdf [16123 is NA for X]
http://www.world-mysteries.com/sci_1.htm [X is 3% of NA population]
http://www.journals.uchicago.edu/AJHG/journal/issues/v69n1/012819/012819.web.pdf
http://www.skadi.net/forum/showthread.php?p=41963#post41963 [Percent of population]
http://www.journals.uchicago.edu/AJHG/journal/issues/v68n3/002146/002146.tb3.html [Percent of pop. Europe]
MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population.
Supplementary Data. Ashkenazi mtDNA haplogroups and HVS-1 sequence motifs. Full Artical: http://www.ftdna.com/pdf/Behar%202004%20mtDNA.pdf Data used: http://www.nature.com/ejhg/journal/vaop/ncurrent/extref/5201156x1.xls [J and K data shown in blue]
Name of the article: mtDNA polymorphisms in five French groups: importance of regional sampling.
Principal author: Vincent Dubut, Université Bordeaux
Journal: European Journal of Human Genetics
Published: Online, 2003. http://www.nature.com/ejhg/journal/vaop/ncurrent/extref/5201145x1.doc
http://aafs.micronexx.com/PDF/JOFS/JFS2001368476/JFS2001368476.pdf [J1, J2 and K1, K2 defining mutations]
Mitochondrial diversity of a northeast German population sample. Poetsch M, Wittig H, Krause D, Lignitz E. Forensic Sci Int. 2003 Nov 26;137(2-3):125-132. [German data for J and K]