Improved resolution of E-M215 (aka E3b / E1b1b)

A new paper has appeared with a a focus on Haplogroup E, and mostly focused on E-M215 and E-M35, with a moderate level of improvement in resolution from what we used to know.

Basically, at first glance, the major novelty with respect to E-M215 is that all E-Z830 (x M123) lineages are united under a new mutation dubbed V1515, and that the former solo lineages of E-M35, i.e. E-V92 and E-V6, now have a home and are included within this unification. In addition, the above named unifying mutation, V1515, apparently has a bifurcated structure itself, with one younger branch having the sole representation in the Southern parts of Ethiopia and further South, and the more diverse (hence ancient) branch being represented in the Northern parts of Ethiopia and further North.

New basal haplogroup E mutations were also apparently found.

The paper is Open access , and I will analyze it further in the coming days , but I just wanted to plot the Eastern African E-M215 variant frequencies for now.
 

UPDATE (6/26/15) - Added NAfrica E-M215 frequencies

UPDATE (6/26/15) - Added new mutation rate
The new fossil calibrated mutation rate has been added to the TMRCA Calulator, unfortunately 95% CI values have not been given (or at least I could not find where they have been given), in any event, central TMRCA estimates for this new mutation rate are a bit slower than mutation rates derived from the other ancient DNA calibrated sources, specifically,  ~ 4%  and 12% slower than Karmin (2015) and Fu (2014) respectively.

UPDATE (6/27/15) - Comparison with YFull TMRCAs

I have created a table for the TMRCA of the major nodes in E-M215, in order to compare with YFull’s estimates so that we can ‘fill in the gaps’ for the Nodes that have not been given estimates in Trombetta (2015). YFull uses a mutation rate that is almost exactly identical to Fu (2014)’s  Ust-Ishim calibrated rates, so naturally some of the TMRCA’s would be closer to today than the Trombetta estimates, as pointed out above.

	TMRCA (KYA)
	Trombetta	YFull
E-M215	39	35
E-M35	25	24
E-V68	20	20
E-M78	15	13
E-Z827	?	24
E-V257	?	14
E-Z830	20	19
E-M34	?	15
E-V1515	12	?

Sudan MTDNA

Find below relative frequencies for Sudanese MTDNA from a thesis entitled "Genetic Patterns of Y-chromosome and Mitochondrial DNA Variation, with Implications to the Peopling  of the Sudan", the entire thesis can be downloaded from here. The thesis also includes YDNA data, but those same results have been already covered in this blog post. Additionally, some interesting ancient YDNA data is also included in the thesis.

Note, I wrote a small script that can enable sorting of the relative frequencies by clicking the haplogroups, you can find the script @ JSFiddle, if you find the script useful and would like to use it for other relative frequency charts, please cite the JSFiddle link from above.

More Ethiopian Uniparental Data (More resolution.. less clarity)

A new paper attempting to decipher the out of Africa exit route by focusing on Ethiopian and Egyptian autosomal genetics was published a couple of weeks ago. Putting aside the 'hocus pocus' autosomal analysis for a moment, I was quite intrigued by the more concrete uniparental relative frequency images published in the supplemental material, not a lot of clarity is attached with these images however as the actual numbers are not given.

Note that the phylogeny they reference for the results here, is from Phylotree Y.

Below I have attempted to interpret some of the colors from the image into Numerical approximations, note these are only approximations and not a substitute for the real data, of which I am not privy to.

	Amhara	Eth Somali	Gumuz	Oromo	Wolayta
A-M13	27%	0%	55%	19%	48%
B-M150	0%	0%	4%	0%	0%
B-M8495	0%	0%	35%	0%	0%
E-M96	3%	4%	0%	6%	12%
E-M215	3%	0%	0%	0%	0%
E-V22	9%	0%	0%	5%	3%
E-Z1902	8%	80%	4%	20%	0%
E-Z830	0%	0%	0%	0%	3%
E-M34	3%	0%	0%	5%	13%
EM4145	17%	0%	0%	25%	20%
J	25%	11%	0%	19%	0%
T	3%	4%	0%	0%	0%

A-M13 :

The prevalence of this haplogroup in Ethiopia has always been known to us, however the extremely high frequency in the Wolayta is quite a surprise, this could be due to the relatively small sample size however, as the much higher sample size of the Wolayta found in the Plaster thesis, only showed 13% of A-M13.

B-M150 and  B-M8495 :

Only found in the Gumuz, we have known for a while that B is not prevalent at all in the wider Ethiopian population, rather it is a continuation of the much larger B frequencies found in Niloitic Sudan. Still, it is good to see a finer resolution of B, and that the majority of B clades in Ethiopia belong to the small B-M8495 branch.

E-M96:

This could potentially be a wide variety of things, but my money would be on E-M329, sister clade to E-M2 and  child clade of E-V38, which in turn is a sister clade to E-M215, the most prevalent YDNA lineage in Ethiopia.

E-M215

As this is showing only in Northern Ethiopia, I would think it maybe E-V92, it still could however be a basal "E3b" lineage.

E-V22

A variant of E-M78, this lineage has always been found in low amounts in Ethiopia, with moderate amounts in Sudan and Egypt.

E-Z1902

This is a lineage that is found downstream of E-M78, but unites E-V12 with E-V65, which means the results would include E-V32 , a sublineage of E-V12 and the most frequent YDNA lineage in Somalis, I would wager that all of the E-Z1902 is actually E-V32, since E-V65 has never been found in Ethiopia thus far. There is a chance that some E-V12* could be in the mix as well.

E-Z830

This lineage has been discussed before, it unites many lineages in Ethiopia, including E-M34,E-M293 and E-V42. It looks like they did not test for E-V42 from the image however, so it could be E-V42.

E-M34

The prevalence of this lineage in southern Ethiopia from the image above, could be further confirmation of the high frequency of E-M34 found in the omotic speaking Maale from the plaster thesis.

EM4145

This is a tricky one, I am not sure what it is , I have searched for SNPs named as such and came back empty handed, to complicate things further, it is shaded a similar color as E-M293, but I discounted that lineage based on the fact that the lineage they report here is found in relatively high frequency in Ethiopia, whereas previous data shows that E-M293 is only found in low to moderate  frequencies in Ethiopia. My best guess for this SNP would be something equivalent to E-V6, if not that then E-P2(x E-M215), but with less confidence for the latter, as if that was the case, I would think they would have given it a more basal presence in the hierarchy of YDNA lineages from the image above.

J and T

These F belonging lineages look both to be inline with what we already know in terms of frequency distribution throughout Ethiopia.

refs:
http://ethiohelix.blogspot.com/2010_12_01_archive.html
http://ethiohelix.blogspot.com/2012/01/e1b1b-update.html 
http://ethiohelix.blogspot.com/2012/11/extensive-doctoral-thesis-on-ethiopian.html
http://ethiohelix.blogspot.com/2013/05/another-extensive-thesis-on-east.html

Update 06/07/2015 - MTDNA