mtDNA C1e haplogroup (2026 update) (and C1f & C1g too)

I first posted about a unique and rare mtDNA haplogroup C1e found only in Iceland, back in 2014, hinting at a Neanderthal origin. Recently, I mentioned mythical voyages of mythical King Arthur to Iceland. Today I will review publications that mention C1e, since 2015.

C1e in Central Asia

This rare haplogroup has been reported in a paper by Järve, Mari et al. (2019), Shifts in the Genetic Landscape of the Western Eurasian Steppe Associated with the Beginning and End of the Scythian Dominance. Current Biology, Volume 29, Issue 14, 2430 - 2441.e10. The article mentions this lineage casually, and then includes data in its Supplementary file, as Table 2: "All of the 31 individuals were successfully haplotyped (Table S2). Despite the small sample size, the 31 samples of this study exhibit a remarkable heterogeneity of mtDNA haplogroups (hgs) (Table S2)... with a few representatives of the rare hgs X, W and C1e (5/31)". Only one sample of the 31, was C1e, it is sample MJ-43, identified as ScySar_Su (Scythians and Sarmatians from the Southern Urals).

This sample belongs to a woman from the Early Prokhorovka period (4th century BC) from Sibai-1 from the northern periphery of the Prokhorovka area in Russia (more details on MJ-43 here) this spot can be seen in this map. These people were nomads who bred sheep and cattle, and were great horse riders. They buried their dead in large mounds.

The article describes this group: "Scythians and Sarmatians of the Southern Urals (group ScySar_SU) Due to its geographic position, the Southern Urals region became a contact zone of different ethnic groups at the beginning of the Early Iron Age. The prominent natural feature of the region is the mountain range of the Urals that divides the Eurasian steppe zone into its European and Asian parts. The relative proximity to the nations of Central Asia and the Near East, the abundance of natural resources and the existence of large centers of metallurgy made the region attractive for nomads, which culminated in the formation of a large-scale union of nomads in the 5th–4th century BC." How did the C1e go to Iceland from here, or reach this area from Iceland?

C1e in Xinjiang, China

Then there is the paper by Wang W, et al. (2021) (Ancient Xinjiang mitogenomes reveal intense admixture with high genetic diversity. Sci Adv 7: eabd6690) who mention the C1e haplogroup in its Supplementary file Table S1 as follows "WTL_M3B, Wutulan (WTL), Nilka County", China. This place can be seen in this Google map. It is dated at 2425-1942 BP. This is far from Iceland, and roughly 1,250 miles or 2,000 km from the Russian site, and very far from America.

A paper published last year by Cabrera V. (2025) suggests a back-migration from America into Asia: "Hg C1 comprises four common and well spread sub lineages, three of them (C1b, C1c, C1d) practicably exclusive of the Americas and one (C1a) with a wide Asian range, and several rare clades/isolates, the most ancient of which is represented by two identical sequences from Brazil (Simão et al. 2021) and Paraguay (Avila et al. 2019) that carries twelve mutations in its basal stem (Supplementary_Fig_S3.xls). Curiously, the other isolates have been detected in northwestern Eurasia instead of East Asia: C1e in Iceland (Ebenesersdóttir et al. 2011), western Russia (Järve et al. 2019), and western China (Wang et al. 2021); C1f in Tajikistan (Peng et al. 2018) and C1g in Mesolithic remains from western Russia (Der Sarkissian et al. 2014). As the oldest clades are found in the New World, the most parsimonious conclusion is that all the C1 branches in Eurasia resulted from retro migrations from America."

Name Change C1f → C1g

Cabrera refers to a C1g haplotype reported in 2014, in Russia, by Der Sarkissian et al. I quote this paper below. But note that the nomenclature has changed between this 2014 paper and now. The former C1f of 2014 is now C1g (Source).

A paper by Clio Der Sarkissian, et al.(2014) reporting another rare variant, mtDNA C1f haplogroup, found in Yuzhnyy Oleni Ostrov (see map), in NW Russia, discusses the American origin of the C1f and C1e variants:

"The Americas also remain under-sampled for complete mtDNA genomes and could be suggested as a potential geographical origin for the C1f lineage, as it has been for the Iceland-restricted C1e sub-clade. For C1e, an American origin through mating of Viking explorers with Native American women sometime earlier than 300 years ago was proposed. Among other hypotheses including that of a European origin, an American origin was favoured on the basis that most of the hg C1 diversity is found on the American continent, despite the fact that no sequence belonging to hg C1e could be detected in the Americas (or anywhere else). This lack of match was explained by under-sampling of the American mtDNA genome diversity. In any case, if admixture between Native Americans and Vikings did occur, it must have been limited, as no other American-specific lineage (e.g. hg A2, B2, D1, C1b, C1c, C1d) was detected in Iceland.
As for Mesolithic Europe, the possibility of a direct prehistoric genetic influence from the Americas is highly unlikely. However, in the eventuality that further sampling of complete mtDNA genomes in the Americas reveals the presence of additional haplotypes belonging to C1f, it would suggest an evolutionary history similar to that of mtDNA hg X2. Like hg C1, hg X2 displays relatively low frequencies albeit with a global distribution in the Northern hemisphere. For example, clade X2a was observed in Europe in the West, in the Near East, Europe, Central Asia, Siberia as well as North America [43]. One model for the present-day distribution of hg X2 suggests that clade X2a split early from the rest of the X2 lineages in the Near East, and reached east Siberia before participating in the second wave of migration into the Americas through admixture with Beringian populations [44]. A similar scenario involving an early split of the different C1 clades in Asia followed by their spread and subsequently isolated evolution could be considered as an explanation for the wide geographical distribution of hg C1 in general. However, this scenario currently lacks substantial support."

But the authors favor an Eurasian origin: "we suggest that the Icelandic-specific C1e sub-clade could have had a recent origin in northern Europe rather than an American origin. This hypothesis is relevant with regard to the origins of the Icelandic population, as Iceland was discovered and first settled by Scandinavian Vikings around 1,130 years ago. Vikings raids extended as far from their homeland in Scandinavia as France, Spain and Sicily, but their main expansion range comprised western Russia, the Baltic region, Scandinavia, and the British Isles [16]. The study of the mtDNA diversity of present-day Icelanders identified that most of the Icelandic mtDNA lineages had Norse (from Scandinavia) or Gaelic origins (from the British Isles) and that the Icelandic gene pool had strongly been impacted by genetic drift... Considering the Scandinavian origins of Icelanders and the identification of the sister clade C1f in Mesolithic North East Europe, it can be proposed that the Icelandic-specific C1e and C1f sub-clades might have both split from the common ancestors of the C1 lineages somewhere in Eurasia and later reached northern Europe during independent or similar migrations (before the Mesolithic for C1f). Therefore, the rare occurrence of the C1e and C1f sub-clades in Europe could be the result of their dilution within the pre-existing European mtDNA diversity when these lineages reached Europe... C1e might have been brought in by the Vikings who first colonised Iceland... While the C1e sub-clade might have been preserved at detectable frequencies in the Icelandic population due to the effects of founder event, it most likely has gone extinct in the source population in northern Europe as a consequence of its low frequency."

More Recent Developments

With the surge in genetic analysis, there have been more reports of C1f (see this source) that reports: 4 individuals in Iceland, 2 Native American, 1 German, and 5 individuals in another two countries (Italy and Tajikistan). A blog post from 2023. C1g has been reported in one ancient male individual, from Karelia (close to the Yuzhnyy Oleni Ostrov location), dated to 8,800-7,950 BP (Source).

A 2017 paper by Ming-Sheng Peng et al. adds some more C1g individuals to the map. In its Supplementary Table S4 it mentions two individuals with C1g haplogroup, PT35 and HM804483 the second has a note that reads "Origin_locality: USA Family Tree". Table S1 identifies the origin of PT35 as Pamir Tajik, the other sample seems to be an older one, used as a reference. This source gives full details, it is a C1, and back in 2009 it was a C1f (Source), now reanamed C1g.

More information is provided by https://www.yfull.com/mtree/C/, with 2021 data showing:

• C1f1, two individuals from Tajikistan, Gorno Badakhshan which includes Pamir.
• C1f2, one individual from India, Marathi, the other (id: YF132247) unspecified.
• C1g, one individual from Bolivia, ancient sample c.826-1049 BP, the other (id:JQ705835.1) unspecified.

I must admit, however, that I am confused by the nomenclagure, the Tajiks and the Indian are classed as C1f, but we have seen above that they are C1g! (?) geneticists have this persistent issue with changing codes and causing confusion!. Anyway the point is that this ratifies the Tajiks as C1g -or f- variants, and mentions an Indian subject, and a new ancient C1g in Bolivia, pre-Hispanic by its age.

2021 data on C1f and C1g. Source

The ages of the C1f branches in Asia are 4700 years BP are much younger than the 16200 years assigned to C1g, however, I must point out that Postillone and Pérez (2017) says that the Bolivian sample mentioned further up -it has the same id code- is C1c and not C1g! "KU523335.1 245.C1c C1c Bolivia." It also appears as C1c in the National Center for Biotechnology​database. So I have my doubts about it being C1g.

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Patagonian Monsters - Cryptozoology, Myths & legends in Patagonia Copyright 2009-2026 by Austin Whittall © 

The Inca Child from Argentina and a new haplogroup C1bi

The third and last post of the day deals with a novel mtDNA sub clade found in the mummified (due to the high dry altitude of the Andes) remains of a child sacrificed by the Inca people about 500 years ago. The child's mtDNA is similar to that found in some very old remains in Upward Sun River, Alaska.

The paper (see below [1]), reports that this new variety of C1b haplogroup and that it is very ancient: The authors believe it originated some 14,000 years ago along the Andes in South America. As it is rare nowadays they suggest that either (a) it is due to a bias in sampling -so it has not been detected in large frequencies, or (b) it has become extinct in many parts due to the mass deaths caused by the turmoil of European discovery and conquest during th 1500s. They write:

" the phylogenetic patterns of C1bi point to a geographic origin in the Andean side of the South American sub-continent approximately 14 kya. The haplotype found in the Inca child from the Cerro Aconcagua, interpreted in the light of present-day variation in South America and together with the different archaeological and anthropological findings, supports the existence of demographic movements along the Pacific coastline during the Inca period. The fact that C1bi is very uncommon in present-day populations from South America could be explained by insufficient sampling of modern populations (although the present-day haplotype databases of mitogenomes and partial mtDNA sequences are very large). Alternatively, this rarity could reflect important changes in the gene pool of South America since the period of the Inca civilization. Further research on modern and ancient South American populations" [1]

Regarding the age, those 14 kya are maybe even too recent, their confidence intervals are rather wide, from 5 to 23.6 kya. The child was sacrificed 500 years ago during an Inca rite on the highest mountain located outside of Asia, the Aconcagua.

They point out that " C1b most likely arose relatively early, either in Beringia or at a very initial stage of the Paleoindian southward migration [...] While some C1b sub-clades were exclusively observed in Mesoamerica or in South America, a few of them were found in both territories." The map published in the paper shows the distribution of C1b across America: it is strongly concentrated in Mexico, Peru and strangely, in Puerto Rico.

C1b distribution heat map. From [1]

The child has a new clade named C1bi (where "i" stands for "Inca") and is similar to the clade "C1b13. The TMRCA of this sub-clade is 11.8 (8.6–15.1) kya; it is virtually absent from North-Central America and its geographic location is mainly centered in Chile", which fits in the same geograpic area of C1bi.

The clade is very rare: "By querying large databases of control region haplotypes (>150,000), we found only a few C1bi members in Peru and Bolivia (e.g. Aymaras), including one haplotype retrieved from ancient DNA of an individual belonging to the Wari Empire (Peruvian Andes)." [1]

I have already written about the loss of diversity in America not because of a Beringinan or Out of Asia bottleneck but due to the high death toll that virtually wiped out the Native Americans when they were contacted by the European navigators after 1492. Interestingly, my post cites a paper which points out that Hg C suffered a greater impact of lost diversity (with Hg D) than either haplogroups A or B.

In another post I tried to link mtDNA hg. C1 with the Neanderthals. In this post I mention that hg C1 spans Eurasia and America, closely following the Neanderthal homeland.

In [1], the authors found one sample "...that belongs to haplogroup C1b13b sampled in a Spanish individual, although born in Talagante (Chile); therefore we labeled it here as originating in America" [1], in other words a person of European origin born in America carried a European variant of C1. They assumed perhaps that this individual had some Amerindian admixture, I believe that it is just a coincidence that this man has C1 and by chance his ancestors migrated to America.

The hot spot in Puerto Rico is very interesting and requires some explanation. The local Carib - Taino natives were wiped out early during the discovery period. So where did the C1b found there come from?

Sources
[1] The complete mitogenome of a 500-year-old Inca child mummy Alberto Gomez-Carballa, Laura Catelli, Jacobo Pardo-Seco, Federico Martinon-Torres, Lutz Roewer, Carlos Vullo y Antonio Salas Scientific Reports 5, Article number: 16462 (2015). Nature, Nov. 12, 2015 doi:10.1038/srep16462

Patagonian Monsters - Cryptozoology, Myths & legends in Patagonia Copyright 2009-2015 by Austin Whittall © 

mtDNA C1 haplogroup in Europe a Post Script (The X2a hg)

A note to add to my previous post on the mtDNA C1 haplogroup in Europe, and new data regarding X2 haplogroup.

Before her 2014 paper (cited in my post on C1 hg), Der Sarkissian had studied the mtDNA sequenced from Northwestern Russian remains in her 2011 doctorate thesis [1]. Her comments were prescient because in 2014 they were classified as a new hg: C1f; she wrote: "the Uznyi Oleni Ostrov C1 haplotype may in fact represent a distinct European-specific lineage" not linked to the C1 found among Western Siberians.

This Russian C1 was described as "a genetic outlier at the periphery of its proposed origin" (in South Western Central Asia) and its "absence... in other ancient and modern-day European populations suggests that the spread of haplogroup C did not reach further west into central Europe". [1]

She underlines its antiquity when she gives the reason that this haplotype survived for so long: the isolation of this group and maybe, the "closed mating system in isolation with other Mesolithic populations of Scandinavia" [1]

But orthodoxy imposes its imprint on the thesis, and the Amerindian C1b, C1c and C1d lineages are shown as "newer" (the image below shows this clearly) than the "older" Eurasian C1e and C1f lineages from Iceland and the Uznyi Oleni Ostrov site:

Phylogenetic tree for C1 mtDNA haplogroup. From [1]

But the really interesting part is that Der Sarkissian points out that another mtDNA haplogroup X2 is very similar to the mtDNA C1 hg in that:

• It is found at relatively low frequencies in contemporary populations
• It has a very wide geographic range (from North America to Europe and also Siberia, the Middle East, North Africa and Central Asia)

These similarities suggest a similar evolutionary history for both X2 and C1.

Furthermore X2a (the Amerian clade) split early from the other ones; the split took place in the Middle East and from there the X2a carriers swiftly moved on into Siberia and accessed America in a second migratory wave, not long after the first wave. [2]

The X2 haplogroup

I recall reading about X2 when I was researching for my book (Monsters of Patagonia) back in 2009, and at that time thought that it was most likely due to admixture from contact with Europeans post-1492 discovery of America. This was founded on the idea that it was an Old World haplogroup and that it was only found among certain North American tribes that had been in direct contact with the French and English colonies in Canada and what would later become the US.

Furthermore I was reluctant to engage in further investigations because I found the Solutrean hypothesis as a source for the X2 mtDNA population was rather weak, and some theories regarding ancient Greek admixture into the Cherokees and other North American natives as too flimsy (I omit the Mormon theories and quack Atlanteans as totally non-scientific). There were no serious papers on these subjects and mostly posts in questionable - racist - supremacist forums made me drop further research, until now.

Encouraged by Der Srakissian's thesis I decided to look into the X2 hg once again, and came up with the following details, summarized below: [2][3][4]

mtDNA X haplogroup, range and entry to America. Copyright © 2014 by Austin Whittall

• Haplogroup X has a wide geographic range covering Europe, North Africa, Asia and North America
• It descends from the ancient N haplogroup, dating back to at least 30 kya. It evolved from N in the Near East and surrounding areas of Western Eurasia
• It is currently found at very low frequencies in Europe (less than 5% of all MtDNA)
• Three populations carry it at high frequencies: Orkney Islanders (7%), Georgians 8%, Druze (11%) -The Druze have the greatest diversity of X lineages of any population X1a, X1c, X2b, X2e, X2f, X2h and X3 and their territory is very likely a refugia of the original X population [4].
• It is found among Neolithic Europeans at surprisingly high rates: Elau, Germany (4,6 kya), at 22.2%, [5] and 12.5% at Calden, Germany (3000 cal BC), [6]. In these sites all carriers were X2 hg.

• It is split into two clades, X1 and X2: [2]
  
  • X1 is found in North and East Africa, with entry routes along the coasts of the Red and Mediterranean seas
  • X2 spans Eurasia and is also found in North American natives (X2a haplotype)
• X1 is higherst in Africa (36.8% of the X carriers there are X1)
• X2 prevails in the Middle East, Europe and South Caucasus (97.2% of X hg carriers are X2) and in Central Asia and Siberia (100%)
• X2a (the Amerindian clade) does not have any close relative in the Old World, including Siberia (Altaian X2e2a is another haplotype which is more recent). Was it lost due to genetic drift?
• X2a split very early from all other X2 haplotypes in the Middle East, right after X began to expand at the time of the Last Glacial Maximum (LGM)
• Coalescence time for X2a is 18,000 +⁄- 6,800 ya.
• X2a occurs only at a 3% frequency among North American Natives, so it is quite uncommon
• Its range in US and Canada is centered in the Great Lakes and the Western Plains, and has some outliers in Washington State and Arizona. Perego explains this range as caused by a central dispersion corridor from Beringia to the Great Lakes after the ice sheets receded [7]
• X2a prevails among the Algonquian natives such as the Ojibwe and Chipewa (25% frequency), and is strong among other natives to the West of them: Sioux (15%), Nuu-Chah-Nulth (13%), Navajo (7%), and Yakima(5%). The presence in the Navajo (Southern Na-Dene) is most probably due to recent admixture with other northern Native Americans
• It has not yet been detected in Central or South America

• The American haplotypes are: [*]
  ♦X2a1
     - X2a1a: Sioux and Tanoan speakers
       - X2a1a1
     - X2a1b: Ojibwe people
       - X2a1b1
        - X2a1b1a
     - X2a1c: Ojibwe people
  ♦X2a2: Nova Scotia and Newfoundland

Comments

[*] Perhaps there is even more diversity among Amerindians: Perego [7] classified an outlier X2g, that lacked the markers of X2a1 and was different from the other Old World X2 branches, suggesting another extremely rare founder line in America.

An interesting point regarding X's antiquity is "that the basic phylogenetic structures of the [X and U] mtDNA haplogroups in West Eurasia and North Africa are as ancient as the beginning of the spread of anatomically modern humans in this region." [2], which in this paper is dated as 23 - 36 kya, close to the LGM. X is believed to have undergone "a long incubation period coinciding with and following the most recent out of Africa expansion" [4] placing it even further back in time.

Time for my wild hypothesis...

It is old, Neanderthal old. It appeared in the heart of their Eurasian realm. Its current low frequency is due to sucessive overlays of modern human mtDNAs. It was more frequent in the past as shown by the German Neolithic remains. Some refugial areas on the fringes of Europe (Orkney Islands, the Caucasus and the Druze highlands) retained a higher frequency.

The eastern Neanderthals moved on, across Asia following the animals they hunted perhaps long before the H. sapiens OOA move. These Neanderthal peopled the New World. None remained in Siberia that is why it is not found there now. They entered America along the only available corridor open to them reaching the Great Lakes area.

I checked when this corridor was open earlier than 20 kya to provide an entry date into America and came up with the Sangamonian period 125 to 75 kya [8], so it is not so far fetched.

The Neanderthals settled there (perhaps their migration followed specific prey whose range ended there). They never moved on, further South. These were cold-climate people. Later waves of migrants occupied the rest of the New World, sealing these X2a carriers off in their current range.

But... X2 is a Homo sapiens mtDNA haplogroup, not a Neanderthal one. So the theory outlined above is wrong.

Yes, if we accept current timelines for mtDNA evolution. But if we consider that the times are underestimated, that the coalescense time for X2 is not 40 kya but 150 kya and that the African Eve is not so recent, and maybe even found in Eurasia... that perhaps the coalescense leadst to a non sapiens hominin, then it could be possible to accept the scenario outlined above.

I already mentioned something similar regarding the Y chromosome evolution, and am still trying to figure out how to write a post on this subject. The main objection I find is that the real Neanderhtal mtDNA that has been sequenced until now is very different to ours and lies on a distinct phylogenetic branch. Definitively more analysis is needed before I can post on this subject!

Sources

[1] Der Sarkissian, Clio, (2011). Mitochondrial DNA in Ancient Human Populations of Europe Doctorate Thesis Univ. of Adelaide, South Australia.
[2] Maere Reidla et al., (2003). Origin and Diffusion of mtDNA Haplogroup X Am J Hum Genet. Nov 2003; 73(5): 1178–1190. Oct 20, 2003. doi: 10.1086/379380
[3] Europedia, Haplogorup X (mtDNA) www.europedia.com
[4] Shlush LI, Behar DM, Yudkovsky G, Templeton A, Hadid Y, et al., (2008). The Druze: A Population Genetic Refugium of the Near East. PLoS ONE 3(5): e2105. doi:10.1371/journal.pone.0002105
[5] Haak et al., (2008). Ancient DNA, Strontium isotopes, and osteological analyses shed light on social and kinship organization of the Later Stone Age. PNAS November 25, 2008 vol. 105 no. 47 18226-18231 10.1073/pnas.0807592105
[6] Lee, E.J., et al., (2012). Collective burials among agro-pastoral societies in later Neolithic Germany: perspectives from ancient DNA. Journal of Archaeological Science.
[7] Ugo A. Perego et al., (2009). Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare mtDNA Haplogroups. Current Biology Volume 19, Issue 1, 13 January 2009, Pages 1–8. doi: 10.1016/j.cub.2008.11.058
[8] Peter C. Lent, Muskoxen and Their Hunters: A History. pp 18

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Patagonian Monsters - Cryptozoology, Myths & legends in Patagonia Copyright 2009-2014 by Austin Whittall © 

mtDNA C1 haplogroup and Neanderthals

In today's post we will let the Y chromosome take a rest for a while because we will be looking into the female contribution to our ancestry, our mitochondrial DNA (mtDNA), and in particular, the interesting distribution of the C1 haplogroup in America and Eurasia.

While I was writing my previous posts on the Y chromosome Q haplogroup in Scandinavia, I came across a paper on the presence of mtDNA haplogroup C1 in Iceland, and recalling that it was considered -until now- an almost exclusively Amerindian haplogroup (with very low frequencies in Asia), I was intrigued, and decided to research the matter. This post is the result.

C1 haplogroup in America

The Native American people belong to five mtDNA haplogroups, which are almost exclusive to America (there have been some minor back-migrations from America into Asia): A2, B2, C1, D1 and X2a.

Of these, haplogroup C1 is widespread across the Americas, from Tierra del Fuego to central northern Canada (it is absent among the Innuit in northernomost Canada and Alaska).

A Map showing the mtDNA C1 haplogroup current and probable archaic range
Copyright © 2014 by Austin Whittall

C1 hg has in mutated in America and originated four subclades (C1a, C1b, C1c and C1d), of which C1b to C1d are found exclusively in America, and C1a is found in Asia where it back-migrated from the New World. These subclades, in turn have branched into other sublineages.

The Age

The coalescent age of these subclades is shown below [1]:

• C1a: 7.7 +⁄- 1.9 kya (Siberian Branch)
• C1a: 18.0 +⁄- 7.9 kya (Founder age)
• C1b: 17.9 +⁄- 2.3kya
• C1c: 22.2 +⁄- 3.3 kya
• C1d: 20.1 +⁄- 4.4 kya

C4 is also present, in Asia and has been recently been detected in two individuals North and South America [1], (C4c) it has a similar age (20 to 25 ky).

I have already written about my doubts regarding the age and coalescence calculations which are based on estimated mutation rates and mtDNA clocks, which I believe are not too reliable (see my post mtDNA clock ticks out of time).

These mutation rates are fit "by hand" by geneticists to coincide with the data provided by the archaeological scientists, which firmly believe in a late peopling of America. So this is a self-fulfilling-prophecy where the mutations found in populations obviously coincide with the arrival dates of those populations in their current territories, since one is based on the other and no external corroboration is provided.

As an example see a criticism againt an "old" age proposed by Fagundes et al., 2008 [4] which states: "The older dates also require additional explanation for the absence of archaeological evidence in the Americas during this phase and for why populations should beshowing significant signals of expansion under such unfavorable climatic conditions" [3], where the unfavorable climate is the last Ice Age however the previous beningn periods are not even considered because they are too old and the archaeological evidence, when provided is not even taken seriously because it is too old!.

Interesingly, C1 has a high values for nucleotide diversity indices, and show a South to North cline (with most variations in South America), indicating that it has deeper roots in the southern part of the New World or that bottlenecks reduced its diversity in the North. In my opinion in points at an older date of entry into America than those mentioned above.

But back to orthodoxy: Just before entering America, there already was intra-haplogroup variation originating the C1b, C1c and C1d subclades [1]. Regarding C1a, it is also found in diverse populations in Asia, but is quite rare there: Southern Siberia where it is found among the Daurs (2.2%), Ulchi (1.1%), Bashkirs (1.5%), Kazakhs (0.8%), Kirghiz (0.5%), Buryat (0.7%), Kalmyk (0.9%), Orok (11.5%), Mongolians (1.3%), Nanai (1.2%) and Japanese (0.3%) [8]. This presence in Asia is the result from a back migration from America [1] or from "the same ancestral population" that originated the Amerindian haplotypes. [7] As additional proof, you will find that several groups mentioned above figure in my post on a back migration of Y chromosome Q hg into Asia, maybe clans with Q and C1a moved back to Asia.

mtDNA C1 haplogroup in Iceland

A Thesis written in 2010 (Sigríður Sunna Ebenesersdóttir) [5], followed by a paper (Sigríður Sunna Ebenesersdóttir et al., 2011) [2] disclosed the presence of a novel C1 haplogroup in Iceland; it was named C1e.

• It is not the result of recent gene flow from Native Americans or Asians. [2][5]
• It does not belong to any of the four known Native American (C1b, C1c, and C1d) or Asian (C1a) subclades of haplogroup C1. [2]
• The Viking settlers in Iceland had brief and bellicose contact with the Native Americans but could have kidnapped women and taken them to Iceland thus originating the local haplogroup C mtDNA lineage, but the differences between Amerindian C1 lineages and the Icelandic one are considerable.
• Since Aleut, Inuit and Eskimos are not carriers of C1 hg, they are not the vector. [2]
• C1 is quite infrequent among the North American Na-Dene speaking Native-Americans (Apache, Navajo, Haida and Tlingit). [2]
• Amerindian haplotypes are very rare in post 1492 Europe, suggesting limited Euro-Amerindian admixture. [2]
• It is found at very low frequencies in Iceland: about 0.3 %

An Eurasian origin for Iceandic C1e

The likely source arrived in Iceland with the original Viking settlers ca. 900 CE; since these were Europeans, it is possible "that C1e is a very rare European branch". [2] This is corroborated with another line of evidence: "one of the thirteen HVS1 sequences that potentially belong to sub-clade C1e was found in Germany" [2] and that the female settlers brought by the Scandinavian men were women from the British Isles and as "the vast majority of mtDNA lineages observed in contemporary Icelanders are descended from the original set of mtDNA lineages present in the female settlers" [2], this haplogroup was surely present in the X^th century Great Britain.

mtDNA C1 haplogroup in Northern Europe

Only recently was the C1 hg found in the remains of a prehistoric North European (Clio Der Sarkissian et al., 2014) [6], reinforcing the theory of a European source for the Icelandic haplotype. But, surprisingly, it belongs to yet another distinct clade, named C1f, distinct from all other haplotypes.

It was detected in the remains of three individuals retrieved from a Mesolithic site in North Western Russia, on the Kola Peninsula, at the Yuzhnyy Oleni Ostrov site.

This places C1f in Europe 7,500 years ago. But, it has not been detected in current population mtDNA data-bases.

The apparent absence in modern populations may be due to its extinction and replacement by other mtDNA haplogroups introduced by more recent migrations into Europe or a very low frequency among contemporary Europeans leading to its non-detection in the samplings that have been made.

Though C1f has not been found, "HVR-I diversity has revealed extremely low frequencies of hg C1, with very few haplotypes found in Germans, Canarians, Icelanders and Bashkirs. These sequences lack HVR-I Single Nucleotide Polymorphisms (SNPs) diagnostic of the sub-clades C1a (T16356C) and C1d (A16051G)." [6] Meaning that they do not belong to the current East Asian or Amerindian groups (C1a and C1d Hg.)

Comment: The Bashkirs are surely C1a and the Icelanders C1e; the Canarian C1 may be Amerindian: it was a port of call on the way to Southern South America, and had very strong links to the New World during the Spanish colonial period. The German C1 is very probably archaic.

The most widespread haplogroup

So here we have a very interesting mtDNA haplogroup spanning the globe: Northern Europe, Iceland, East - Central Asia ⁄ Siberia and the Americas. What does this tell us?

It apparently entered America via Beringia from Siberia, but it is virtually absent there, where it is believed to have originated as a back-flow from America or an expansion from the ancestral population. It is found in Iceland but the source is apparently European.

It is reasonable to assume that the source for C1 is located in Eurasia (or maybe in America?).

Let's look a the C1f from the Yuzhnyy Oleni Ostrov site. Did they arrive via the invasions of Asian hordes? (we have already seen this hypothesis when we analyzed the Y chromosome Q haplogroup in Europe): Mongols, Huns, Cimmerians (100 BCE to 1,295 CE). It seems unlikely because "the common Asian C1a clade is characterised by the HVR-I transition T16356C, which has not been found in any European C1 haplotype" [6].

The age of these remains (7,500 ya) means that they could not have arisen from European - Native American admixture post-discovery of America in 1492. This clade is definitively an Old World one.

This leaves us with only one option: C1f is very old and has been in Europe at least since Mesolithic times. Its age and location could imply that it is ancestral to the C1e taken by the Vikings (actually by the British women they wed) to Iceland. It also means that C1f and C1a (the East Asian) branches split long ago from the C1 tree, evolving along separate routes. [6] This is shown in the map above where C1f splits from the one leading into America (C1b, C1c, C1d) in Central Asia, and C1a is a back flow from the New World. The pale blue area is the possible range once occupied by the primitive basal C1 root in Eurasia, which later disappeared.

As mentioned above, it has not found in the modern populations in Europe or Asia where it may still exist but has not yet been detected in genetic samplings of the populations. In depth and large scale samples may be required to find it because its originally low frequency may have been further diluted it making it even more uncommon now than it was in the recent past.

To get an idea of its rarity, C1 has appeared only once in Germany, and its presence in Siberia is very low (4 individuals among 1,432 tested) [9]. Interestingly, "The Baltic coast of Europe and Poland also contains a unique C lineage, which may have expanded north from the Black Sea" [9], unfortunately no details are given about it.

The other Mesolithic remains that have been sequenced in Europe did not yield any C1 haplogroup samples [6], this means that even at that time it was quite rare or restricted to certain geographical locations, perhaps as part of relict groups of Paleolithic populations.

And this brings us to... yes! the Neanderthals.

Europe and Central Asia, Western Siberia were the homeland of Neanderthals for hundreds of thousands of years. The Amerindians carry the highest proportion of Neanderthal ancestry suggesting an intimate admixture with them in the New World. The region covered by C1 haplotypes coincides with the range of the Neanderthal people. They were later incorporated by cross-breeding into the modern humans that left Africa 70 kya, this effectively eliminated them by absorption.

But, for this to be true, C1 would have to be a Neanderthal mtDNA haplogroup, and we know (mainstream version) that this is not possible because Neanderthal mtDNA that we have sequenced is too different from ours, furthermore, it would lie on separate branches of the tree, not in one that sprouts from the first modern humans in Africa.

The "Wild" theory

Since this is just a blog and not a peer-reviewed paper and I have no academic career to protect, I can concoct wild ideas and post them here for further criticism and analysis. This is one of them:

The persistence of archaic hominins in modern human genomes

I have already given exactly the same explanation for the Neanderthal's Y chromosome haplogroups which are expected to be different branches, joined at the root by Neanderthal and H. sapiens common ancestor but actually may not be so.

I have expressed my doubts about the ages of the lines and the mutation rates employed to calculate coalescence: maybe mtDNA and Y chromosomes mutate far slower than assumed and the apparent African Modern Humans at the root of the haplo-trees are not human at all, they are H. erectus or H. habilis (the A, B Y chromosome hgs. and the L and M mtDNA lineages within Africa are not the oldest mordern men, they are our ancestors).

This means that the notion of branches splitting like roads and ending in dead-ends is mistaken. Branches criss-cross and mutate and the individuals carrying the mutations change along the branches.

The "tree" below tries to show this, by Analog evolution in (b) I mean many hues and colours due to admixture and introgression, not only discrete lineages that mutate like clocks and die out or survive in a "digital" or binary (black and white, yes - no) fashion, but instead with a full range of options in between).

An approach to the admixture in human evolution. "Analog" evolution
Copyright © 2014 by Austin Whittall

So the paths we see now out of Africa into the rest of the World are not that of H. sapiens, it is the first Hominids to leave Africa and occupy Asia (the Y chromosome C hg, in India and SE Asia and... maybe even into America) or Europe (H. antecessor, Homo heidelbergensis) and later Neanderthals as they spread out across the Middle East, and Western Eurasia.

Only later do the haplogroups (both female and male) follow the trail of Modern Humans, perhaps the Y Chromosome hg is the into Africa path of the modern Humans that originated out of Africa.

I will polish this theory a little and post on it soon.

The point is that both the Y chromosome Q haplogroup and the mtDNA C1 haplogroup span the same region, are found in low frequencies across Northern Eurasia and America, have been detected also at very low frequencies among Mesolithic people and are now rare in the Old World. Both are absent in Africa. Q is found in Oceania (I have no data regarding C1 there). So both display a similar behavior and (orthodox) time frame hinting at a common origin and source population. Both were later overlain by more recent arrivals, diluting them to near oblivion in the Old World.

To me that spells: Neanderthal admixture and dismissal after encountering modern Humans.

It also means: Neanderthals did reach America and were probably present there at the time of arrival of modern humans (within the last 40 - 50 ky), the encounter led to myths regarding ogres and wid men that persist until nowadays among Native American people.

Sources

[1] Satish Kumar et al., (2011), Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins. BMC Evolutionary Biology 2011, 11:293
[2] Sigríður Sunna Ebenesersdóttir et al., (2011). A new subclade of mtDNA haplogroup C1 found in icelanders: Evidence of pre-columbian contact?. Am. J. Phys. Anthropol., 144: 92–99. doi: 10.1002/ajpa.21419
[3] Simon Y.W. Ho and Phillip Endicott, Letter. The Crucial Role of Calibration in Molecular Date Estimates for the Peopling of the Americas. The American Journal of Human Genetics 83, 127–147, July 2008 pp. 142
[4] Fagundes, N.J., et al., (2008). Mitochondrial population genomics supports a single pre-Clovis origin with a coastal route for the peopling of the Americas. Am. J. Hum. Genet. 82, 583–592.
[5] Sigríður Sunna Ebenesersdóttir (2010). Faculty of Social Science. MA-thesis, Anthropology. The origin of Icelandic mtDNA lineages from haplogroup C
[6] Clio Der Sarkissian et al., (2014). Mitochondrial Genome Sequencing in Mesolithic North East Europe Unearths a New Sub-Clade within the Broadly Distributed Human Haplogroup C1. PLoS One. 2014; 9(2): e87612. Feb 4, 2014. doi: 10.1371/journal.pone.0087612
[7] Tamm E, Kivisild T, Reidla M, Metspalu M, Smith DG, et al., (2007). Beringian Standstill and Spread of Native American Founders. PLoS ONE 2(9): e829. doi:10.1371/journal.pone.0000829
[8] Derenko M, Malyarchuk B, Grzybowski T, Denisova G, Rogalla U, et al., (2010). Origin and Post-Glacial Dispersal of Mitochondrial DNA Haplogroups C and D in Northern Asia. PLoS ONE 5(12): e15214. doi:10.1371/journal.pone.0015214
[9] Jeremy R. Newton, (2011). Ancient Mitochondrial DNA From Pre-historic Southeastern Europe: The Presence of East Eurasian Haplogroups Provides Evidence of Interactions with South Siberians Across the Central Asian Steppe Belt. Master Thesis Paper 5.
 

On the 70^th anniversary of D-Day. Long live the heroes of that glorious day, who layed down their lives for freedom.

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Patagonian Monsters - Cryptozoology, Myths & legends in Patagonia Copyright 2009-2014 by Austin Whittall ©