PDA

View Full Version : Where did mt-haplogroup H4 originate?



Maciamo
17-01-17, 10:46
Haplogroup H is the most common maternal lineage in Europe today. It is made up of over a hundred basal subclades. Some were already present in Europe during the Mesolithic period (e.g. H10 and H11), while others came with Near Eastern Neolithic farmers (e.g. H5). Others still were spread from the Caucasus region (H2a1, H6, H8, H13, H15) to Europe by the Indo-European migrations and by Bronze and Iron Age migrations from the Near East to Greece and Italy.

Very little is know about many minor subclades. Among more common subclades, the origins of H4 remain controversial. It hasn't been found in any Mesolithic European or Neolithic Near Eastern samples to date. No H4 emerged from the hundreds of Neolithic samples from Southeast or Central Europe. Its first appearance (as H4a1a) was in the Cardium Pottery culture in Spain and Portugal some 7,000 years ago. The Basques and the Sardinians have higher than average levels of H4, and both descend from Cardium Pottery farmers, but with relatively high Mesolithic South European ancestry. Could it be native to Southwest Europe? It is possible as very few Mesolithic samples have been tested from France, Iberia, or even Italy for that matter. I have longed argued that southern Mesolithic Europeans could have carried various H lineages, including H1 and H3, but also possibly H4.

The modern distribution of H4 doesn't provide a lot of clues about its origins either. Perhaps that is because data is so scarce at present, especially in France, Iberia, Italy and the Balkans. What we see is very conflicting data. On the one hand, a strong presence in northern Europe, especially Iceland, Ireland, Scandinavia, Poland and Lithuania, all places with very high Mesolithic European ancestry. But on the other hand H4 is also high in Northwest Africa, Turkey, Armenia and among Ashkenazi Jews.

Gauging their respective Mesolithic European ancestry (http://www.eupedia.com/forum/threads/33408-Percentage-of-European-Middle-Eastern-admixture-by-ethnic-group), Maghrebis are close to 0%, Armenians have only 5%, Turks 12% and Ashkenazi Jews 24%. What they do have in common though is Mediterranean ancestry, which in admixture calculator blends Neolithic Near Eastern with Mesolithic South European. Using Dodecad K12's Mediterranean admixture, Moroccans and Turks have 27%, Armenians 28%, Ashkenazi Jews 34%. Very similar ranges. Using K12b's Atlantic Med, Armenians 9.5%, Turks have 11.5%, Algerians have 21.5%, Moroccans have 24% and Ashkenazi Jews 25%. Both admixtures peak in Sardinians.

http://www.eupedia.com/images/content/mtDNA-H4-map.png



Behar et al., 2012b estimate that H4 appeared about 10,000 years ago (+-1,500 years), which matches either Mesolithic Europe or the Neolithic Near East. In terms of subclades, the vast majority of European H4 belong to H4a1. H4b is mostly found in the northern Middle East and Caucasus. So a split between a more European H4a and a more West Asian H4b is possible. If H4 originated, say in the Balkans or Anatolia at the end of the last Ice Age, H4a could have spread west to Europe and east to Armenia and Iran during the Mesolithic. Unfortunately too little data about subclades is available for the Balkans and Anatolia.

------------------

I would like to thank the administrator of the mt-haplogroup H4 Project (https://www.familytreedna.com/groups/mt-dna-h4/about/background) for the data on H4 frequencies that allowed me to make the above map.

Arbaso
18-01-17, 19:38
Thanks so much Maciamo for the information and the H4 map.
It is quite obvious that we H4s are few but all over the place. I agree with you that the present distribution of the haplogroup does not help much in determining its origins, and it might be due to scarcity of data.
In a scientific paper written by N.Izagirre et al. in 2005, I read that in the necropolis of Aldaieta (Basque Country), from the VI-VII centuries AD, they found many members with the mitochondrial haplogroup H-73G, which is otherwise known as H4a1a1a. The article is: Unravelling messages from the past: analysis of aDNA.
By the way, I have had my haplogroup updated and now they put me somewhere between H4a1a1a1a and H4a1a1a1a1. This is getting longer and longer!

Judith
19-01-17, 00:53
http://www.euskomedia.org/PDFAnlt/munibe/aa/200503327335.pdf this paper seems to be the one you have read Arbaso and my basic Spanish plus google translate will get used soon.
There are a few more too http://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0034417&type=printable

https://www.researchgate.net/profile/Neskuts_Izagirre/publication/7290903_Rare_Haplotypes_in_mtDNA_Applications_in_t he_Analysis_of_Biosocial_Aspects_of_Past_Human_Pop ulations/links/574421ab08ae298602f0fdf9.pdf

http://onlinelibrary.wiley.com/store/10.1046/j.1529-8817.2005.00170.x/asset/j.1529-8817.2005.00170.x.pdf?v=1&t=iy3aehph&6275b669

I am always hesitant about mtDNA without control region analysis because H4 is defined by 5004c in the control region and later to H4a1a1a needs 8269, & 10044 too.

G73A is part of the upstream subclades of H4a1a1a and then as you say 73G defines it. But I would need to spend a lot of time with the tree to be certain it was H4 because other subclades of Hx may use it too.

Arbaso
19-01-17, 16:42
Judith, as you told me, I uploaded my raw data to James Lick's analyser. The results were interesting, but haven't got a scientific formation, so it is difficult for me to understand them.
Since you belong to the same haplogroup as me, I will share with you the Lick results. Maybe yours are similar or maybe completely different:

My first haplogroup match was: H4a1a1a1a.
And there I had:

No calls (1): 14365T
Extras (2): 5318T and 6221C
Untested (2): 10044G and 15326G

Judith
20-01-17, 12:28
From this site http://haplogroup.org/page/4/?s=A73G you can see that a number of different H or HV subclades are defined by the A73G mutation. It is good that these sites exist because computers do the searching of databases more quickly and accurately than humans!

Arbaso
20-01-17, 19:13
You were right, A73G is not exclusive of this haplogroup...:sad-2:
I have been trying to upload data to Ian Logan's mitochondrial analyser but it seems it is too complicated for me.
Could you give me a link or something to the exact place?
Thanks Judith!

Judith
21-01-17, 23:14
There is his submission tool which I found Ok http://www.ianlogan.co.uk/checker/submission_maker.htm or you can try the written instructions http://www.ianlogan.co.uk/submission.htm
Both need you to have a FASTA file from the tester. I never checked that with you first. But without it the submission will not work, so it may not be you!

Traveler1
27-10-19, 01:41
I got H4d with two extra mutations when I run James Lick, my results are as follow:

Best mtDNA Haplogroup Matches:
1) H4d
Defining Markers for haplogroup H4d: HVR2: 263G 482C CR: 750G 1438G 3992T 4769G 5004C 8860G 9123A 15326G HVR1:
Marker path from rCRS to haplogroup H4d (plus extra markers): H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 3992T 5004C 9123A ⇨ H4 ⇨ 482C ⇨ H4d ⇨ (523G) 3027C 9540C (16519C)
Imperfect Match. Your results contained differences with this haplogroup: Matches(9): 263G 482C 750G 1438G 3992T 4769G 5004C 8860G 9123A Extras(2): (523G) 3027C 9540C (16519C) Untested(1): 15326