More East African mtDNA Charts

Below are more East African mtDNA bar graphs from the Hirbo Thesis, the complementary YDNA charts can be seen in this post, along with the Boattini paper featured here, this gives us a more complete picture of East African mtDNA with a reasonable amount of detail.

Google Visualization API has been having problems for the past couple of months, so the tool tips as well as other functionalities of Google charts may not work, this post will be updated if they fix some of these issues.

With respect to some of the data points, the populations labeled with a * had their total number of samples adjusted in order for the percentages shown in Table 3.4.1 to make sense, that is, Orma has been adjusted from 20 to 21, Marakwet from 22 to 23, Pokot from 39 to 38, San from 11 to 12 and Bamoun from 18 to 20.

African Sahel YDNA

Multiple and differentiated contributions to the male gene pool of pastoral and farmer populations of the African Sahel

ABSTRACT

The African Sahel is conducive to studies of divergence/admixture genetic events as a result of its population history being so closely related with past climatic changes. Today, it is a place of the co-existence of two differing food-producing subsistence systems, i.e., that of sedentary farmers and nomadic pastoralists, whose populations have likely been formed from several dispersed indigenous hunter-gatherer groups. Using new methodology, we show here that the male gene pool of the extant populations of the African Sahel harbors signatures of multiple and differentiated contributions from different genetic sources. We also show that even if the Fulani pastoralists and their neighboring farmers share high frequencies of four Y chromosome subhaplogroups of E, they have drawn on molecularly differentiated subgroups at different times. These findings, based on combinations of SNP and STR polymorphisms, add to our previous knowledge and highlight the role of differences in the demographic history and displacements of the Sahelian populations as a major factor in the segregation of the Y chromosome lineages in Africa. Interestingly, within the Fulani pastoralist population as a whole, a differentiation of the groups from Niger is characterized by their high presence of R1b-M343 and E1b1b1-M35. Moreover, the R1b-M343 is represented in our dataset exclusively in the Fulani group and our analyses infer a north-to-south African migration route during a recent past.

Closed Access

Y(x CF)  Phylogeny, Red = SNPs Tested, Blue =Presumed Tested 

CF Phylogeny, Red = SNPs Tested, Blue =Presumed Tested

A speculative superimposition of E-M35 variants onto Afroasiatic.

Here is a speculative superimposition of the variants of YDNA E-M215/M35 (E1b1b/1) onto an Afroasiatic internal classification, Lionel Bender's (1997) classification. 

The red question marks represent a less unsure fit.

Intra African Genome-Wide Analysis, V2

See Also : Intra African Genome-Wide Analysis, V1


Population References and First Pass K10 Analysis

Finally got some more badly needed genome-wide data from East Africa. 12 sets of populations were added, 9 Afroasiatic (3 Omotic, 4 Cushitc, 2 Semitic) and 3 Nilo Saharan.

I updated my Africa reference map and table below where the newer populations are to be found indexed from 46-57,

 

In addition the data was merged with the older dataset, the bad news is that the genotyping rate for all the 26,129 SNPs dropped by about 7% to 92.4%, the good news off-course is that the data I was eagerly anticipating, especially Nilotic from South Sudan and Omotics from Ethiopia are now available.

When I re-run the model-based analysis with the same settings, i.e ADMIXTURE K10, the major shifts in the cluster allocations were that the Mbuti and Biaka Pygmy clusters combined and formed one Pygmy cluster, the West-Central African cluster disappeared, and in their place a Nilotic and an Omotic cluster were formed. There were quite major shifts in the ADMIXTURE proportions for all the populations except South AFRICA, including the FST distances where the previous major East African cluster (East Africa 2) is shifted much closer to the North African cluster:

 

This is also seen in the ADMIXTURE proportions where the East African proportion in North Africans is sgnificantly higher. I will look to update this post with more analysis but for now:

K2 - K10 Analysis

UPDATE:

Had a chance to rerun the exact same intra-African dataset as above, but this time for K=2-10, while at the same time checking for the Cross Validation Error values:

K, CV Error

1 0.58753

2 0.56519

3 0.55874

4 0.55554

5 0.55379

6 0.55315

7 0.55269

8 0.55239

9 0.55215

10 0.55201

As can be seen, the CV Error is still decreasing, meaning I still have some room to go in my K selection beyond K=10 for this Dataset.

I have uploaded the full set of results and processed output (mean, median, standard deviation) for anybody that may be interested here, but since I do not have time to plot out each K's results like I did for K10 earlier, I will post the peaking population breakdowns for each K run as my program tells me, as well as the Median Values for 3 selected populations: EtA-P (26), ARI-B (17) and South-Sudan (24):

Afrasans in a Genome-Wide context.

A subset of the Intra-African dataset I have includes Afrasans, or Afroasiatic speakers. Afroasiatic is typically divided into 6 major categories or groups; Semitic, Berber, Egyptian, Chadic, Cushitic and Omotic. A 7^th, but nearly extinct group, known as Ongota is contentious, but is by some included as its own branch within the Afroasiatic phylum. All of these Language groups, with the exception of Semitic, are exclusively found in Africa. The 211 Afrasan samples in the dataset belong to 4 or 5 of those groups mentioned, depending on how one accounts for any language shifts (that is shifts within the wider Afrasan phylum) that might have occurred. A rough table is shown below associating the 211 samples with current, and in some cases previously spoken language or language groups of Afroasiatic.

 

In general, Afroasiatic is thought to have emerged somewhere in the North Eastern section of Africa, anywhere from Ethiopia to Southern Egypt, in the genetic (Autosomal) sense, this area can perhaps be viewed as where such populations inhabiting that area in Africa, lie along a diagonal axis of the C1 vs C3 Intra- African MDSplot (at ~ 34^°

from the horizontal), as highlighted below:

MDS plots

After extracting the 211 AA speaking samples from the 1065 sample African Dataset, I performed an MDS Analysis on it as seen below.

Component 1 separates Berber/Semitic/Egyptian speakers from Chadic speakers, with Ethiopian Semitic/Cushitic speakers plotting somewhere in between, but closer to the former in this separation. Component 2, separates Ethiopians+Egyptians from the rest.

 

Component 3 Separates the Mozabites from the Rest, with Ethiopians again retaining an intermediate position.

Model Based Analysis

The Logical value for a K selection would be 6, i.e. equivalent to the number of known Afroasiatic subgroups, however, since Omotic speakers are not present in the Dataset, I went ahead and run a K=5 unsupervised ADMIXTURE Analysis for the Afrasan Dataset.

The K=5 ADMIXTURE run produced the following FST distances,

 

The biggest separation for both Axis is for the cluster I nicknamed Cushitic, while the Berber, Semitic and Mozabite clusters appear pretty close, with the Mozabites looking a bit isolated.

The Median proportions for the clusters can be seen below.

 

The fact that the mozbites formed their own cluster, is intriguing, although one would suspect that inbreeding may play a role, since it can also be seen how the Mozabites cluster away from other North Africans in the 3D MDS plot, almost forming their own group. 

Therefore, to see what this analysis would look like without the Mozabites, I took all 27 of them out, leaving me with 184 AA speaking samples.

I repeated the same analysis as above on the newer Dataset.

MDS Plots

Components 1 and 2 behaved the same way as when the Mozabites were included, Component 3 however, without the Mozabites, separates Berber and Cushitic speakers from the rest to almost the same degree, unlike when the Mozabites were included.

Model Based Analysis

This second iteration of the Afrasan dataset that did not include the Mozabites created a Cushitic, Chadic, Berber and Egyptian clusters, with a 5^th cluster which looked like a relic that is present in trace amounts in all the Afrasan samples except the Mada and Hausa. The Egyptian cluster is also found in highland Ethiopians, it also shows a more frequent occurrence of high Standard Deviation relative to all the other clusters;

 

So the Egyptian cluster looks like it gives less of a linguistic signal than the other clusters, it could potentially be inclusive of a Semitic signal as well as maybe other types of non-Afroasiatic Eurasian affinities.

It would be of great interest to see where Omotic speakears would fit into this analysis.