Haplogroup I is a human mitochondrial DNA (mtDNA) haplogroup. It is largely distributed in Europe and West Asia, and is also found among some Afroasiatic-speaking populations in Africa. The clade is believed to have evolved in West Asia (see Origin and Distribution).
Origin
Haplogroup I is a descendant (subclade) of haplogroup N1e'I (Behar 2012b) and sibling of haplogroup N1e (Behar 2012b). It is believed to have arisen somewhere in West Asia between 17,263 and 24,451 years before present (Behar 2012b). It has been suggested that its origin may be in Iran or more generally the Near East (Terreros 2011).
It is noteworthy that, with the exception of its northern neighbor Azerbaijan, Iran is the only population in which haplogroup I exhibits polymorphic levels. Also, a contour plot based on the regional phylogeographic distribution of the I haplogroup exhibits frequency clines consistent with an Iranian cradle... Moreover, when compared with other populations in the region, those from the Levant (Iraq, Syria and Palestine) and the Arabian Peninsula (Oman and UAE) exhibit significantly lower proportions of I individuals... It should be noted that this haplogroup has been detected in European groups (Krk, a tiny island off the coast of Croatia (11.3%), and Lemko, an isolate from the Carpathian Highlands (11.3%)) at comparable frequencies to those observed in the North Iranian population. However, the higher frequencies of the haplogroup within Europe are found in geographical isolates and are likely the result of founder effects and/or drift... it is plausible that the high levels of haplogroup I present in Iran may be the result of a localized enrichment through the action of genetic drift or may signal geographical proximity to the location of origin.
Terreros 2011
A similar view puts more emphasis on the Persian Gulf region of the Near East (Fernandes 2012).
Haplogroup I ... dates to ∼25 ka ago and is overall most frequent in Europe..., but the facts that it has a frequency peak in the Gulf region and that its highest diversity values are in the Gulf, Anatolia, and southeast Europe suggest that its origin is most likely in the Near East and/or Arabia...
Fernandes 2012
Distribution
Projected frequencies of mtDNA haplogroup I.
Haplogroup I is found at moderate to low frequencies in East Africa, Europe, West Asia and South Asia (Fernandes 2012). The rare basal/paraphyletic clade I* has been observed in three individuals; two from Somalia and one from Iran (Olivieri 2013).
Africa
Outside of Europe, the highest frequencies of mitochondrial haplogroup I observed so far appear in the Cushitic-speaking El Molo (23%) and Rendille (>17%) in northern Kenya (Castrì 2008). The clade is also found at comparable frequencies among the Socotri (~22%).[1]
Asia
Haplogroup I is present across West Asia and Central Asia, and is also found at trace frequencies in South Asia. Its highest frequency area is perhaps in northern Iran (9.7%). Terreros 2011 notes that it also has high diversity there and reiterates past studies that have suggested that this may be its place of origin. Found in Svan population from Georgia(Caucasus) I* 4.2%."Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia."Alfonso-Sánchez MA1, Martínez-Bouzas C, Castro A, Peña JA, Fernández-Fernández I, Herrera RJ, de Pancorbo MM. The table below shows some of the populations where it has been detected.
Europe
Western Europe
In Western Europe, haplogroup I is most common in Northwestern Europe (Norway, the Isle of Skye, and the British Isles). The frequency in these areas is between 2 and 5 percent. Its highest frequency in Brittany, France where it is over 9 percent of the population in Finistere. It is uncommon and sometimes absent in other parts of Western Europe (Iberia, South-West France, and parts of Italy).
Eastern Europe
In Eastern Europe, the frequency of haplogroup I is generally lower than in Western Europe (1 to 3 percent), but its frequency is more consistent between populations with fewer places of extreme highs or lows. There are two notable exceptions. Nikitin 2009 found that Lemkos (a sub- or co-ethnic group of Rusyns) in the Carpathian mountains have the "highest frequency of haplogroup I (11.3%) in Europe, identical to that of the population of Krk Island (Croatia) in the Adriatic Sea".[Footnote 1][Footnote 2]
Historic and Pre-Historic Samples
Haplogroup I has so far been absent from ancient European samples found in Paleolithic and Mesolithic grave sites. One early example has been found in Neolithic Spain (c. 5000 cal BC in Paternanbidea), but its subclade was not determined. Haplogroup I displays a strong connection with the Indo-European migrations; especially its I1, I1a1 and I3a subclades, which have been found in Poltavka and Srubnaya cultures in Russia (Mathieson 2015), among ancient Scythians (Der Sarkissian 2011), and in Corded Ware and Unetice Culture burials in Saxony (Brandt 2013). Haplogroup I (with undetermined subclades) has also been noted at significant frequencies in more recent historic grave sites (Melchior 2008 and Hofreiter 2010).
In 2013, Nature announced the publication of the first genetic study utilizing next-generation sequencing to ascertain the ancestral lineage of an Ancient Egyptian individual. The research was led by Carsten Pusch of the University of Tübingen in Germany and Rabab Khairat, who released their findings in the Journal of Applied Genetics. DNA was extracted from the heads of five Egyptian mummies that were housed at the institution. All the specimens were dated to between 806 BC and 124 AD, a timeframe corresponding with the Late Dynastic and Ptolemaic periods. The researchers observed that one of the mummified individuals likely belonged to the I2 subclade.[2]
Haplogroup I5 has also been observed among specimens at the mainland cemetery in Kulubnarti, Sudan, which date from the Early Christian period (AD 550-800).[3]
Samples with determined subclades
| Culture |
Country |
Site |
Date |
Haplogroup |
Source |
| Unetice | Germany | Esperstedt | 2050-1800 BC | I1 | Adler 2012; Brandt 2013 |
| Srubnaya | Russia | Rozhdestveno I, Samara Steppes, Samara | 1850-1600 BC | I1a1 | Mathieson 2015 |
| Unetice | Germany | Eulau | 1979-1921 BC | I1a1 | Brandt 2013 |
| Unetice | Germany | Plotzkau 3 | 2200-1550 BC | I1a1 | Brandt 2013 |
| Ancient Egyptian | Egypt | — | 806 BC-124 AD | I2 | Khairat 2013 |
| Scythian | Russia | Rostov-on-Don | 500-200 BC | I3 | Der Sarkissian 2011 |
| Unetice | Germany | Benzingerode-Heimburg | 1653-1627 BC | I3a | Brandt 2013 |
| Unetice | Germany | Esperstedt | 2131-1979 BC | I3a | Adler 2012; Brandt 2013; Haak 2015; Mathieson 2015 |
| Unetice | Germany | Esperstedt | 2199-2064 BC | I3a | Adler 2012; Brandt 2013; Haak 2015 |
| Poltavka | Russia | Lopatino II, Sok River, Samara | 2885-2665 BC | I3a | Mathieson 2015 |
| Karasuk | Russia | Sabinka 2 | 1416-1268 BC | I4a1 | Allentoft 2015 |
| Minoan | Greece | Ayios Charalambos | 2400-1700 BC | I5 | Hughey 2013 |
| Minoan | Greece | Ayios Charalambos | 2400-1700 BC | I5 | Hughey 2013 |
| Minoan | Greece | Ayios Charalambos | 2400-1700 BC | I5 | Hughey 2013 |
| Christian Nubia | Sudan | Kulubnarti | 550-800 AD | I5 | Sirak 2016 |
| Late Bronze Age | Armenia | Norabak | 1209-1009 BC | I5c | Allentoft 2015 |
| Mezhovskava | Russia | Kapova cave | 1598-1398 BC | I5c | Allentoft 2015 |
|
Samples with unknown subclades
| Populations |
N |
Frequency |
Source |
|---|
Roman Iron Age sites
Bøgebjerggård (AD 1–400)
Simonsborg (AD 1–200)
Skovgaarde (AD 200–400) |
3/24 |
12.5% |
Melchior 2008a, Hofreiter 2010 |
Viking Age burial sites
Galgedil (AD 1000)
Christian cemetery Kongemarken (AD 1000–1250)
medieval cemetery Riisby (AD 1250–1450) |
4/29 |
13.79% |
Melchior 2008, Hofreiter 2010 |
Anglo-Saxon burial sites
Leicester:6
Lavington:6
Buckland:7
Norton:12
Norwich:17 |
1/48 |
2.08% |
Töpf 2006 |
We have previously observed a high frequency of Hg I's among Iron Age villagers (Bøgebjerggård) and individuals from the early Christian cemetery, Kongemarken [16], [17]. This trend was also found for the additional sites reported here, Simonsborg, Galgedil and Riisby. The overall frequency of Hg I among the individuals from the Iron Age to the Medieval Age is 13% (7/53) compared to 2.5% for modern Danes [35]. The higher frequencies of Hg I can not be ascribed to maternal kinship, since only two individuals share the same common motif (K2 and K7 at Kongemarken). Except for Skovgaarde (no Hg I's observed) frequencies range between 9% and 29% and there seems to be no trend in relation to time. No Hg I's were observed at the Neolithic Damsbo and the Bronze Age site Bredtoftegård, where all three individuals harboured Hg U4 or Hg U5a (Table 1).
Hofreiter 2010
The frequency of haplogroup I may have undergone a reduction in Europe following the Middle Ages. An overall frequency of 13% was found in ancient Danish samples from the Iron Age to the Medieval Age (including Vikings) from Denmark and Scandinavia compared to only 2.5% in modern samples. As haplogroup I is not observed in any ancient Italian, Spanish [contradicted by the above, "early examples have been found in Neolithic Spain (c. 5000 cal BC in Paternanbidea)"], British, central European populations, early central European farmers and Neolithic samples, according to the authors "Haplogroup I could therefore have been an ancient Southern Scandinavian type “diluted” by later immigration events" (Hofreiter 2010).
Subclades
Phylogenetic tree of haplogroups I (left) and
W (right). Kya in the left scale bar stands for thousand years ago.
Tree
This phylogenetic tree of haplogroup I subclades with time estimates is based on the paper (van Oven 2008) and subsequent published research (Behar 2012b).
| Hg (April 2012) |
Time estimate (years) |
SD (years) |
| N1eI | 28'881 | 6'095 |
| I | 20'857 | 3'594 |
| I1 | 15'231 | 3'402 |
| I1a | 11'726 | 3'306 |
| I1a1 | 5'294 | 2'134 |
| I1a1a | 3'327 | 2'720 |
| I1a1b | 2'608 | 2'973 |
| I1a1c | 1'523 | 3'384 |
| I1a1d | 1'892 | 1'863 |
| I1b | 11'135 | 4'818 |
| I1c | 8'216 | 3'787 |
| I2-3 | 11'308 | 4'154 |
| I2 | 6'387 | 2'449 |
| I2a | 3'771 | 2'143 |
| I2a1 | 2'986 | 1'968 |
| I2b | 1'267 | 4'539 |
| I2c | 2'268 | 2'693 |
| I2d | 3'828 | 3'795 |
| I2e | 2'936 | 3'454 |
| I3 | 8'679 | 3'410 |
| I3a | 6'091 | 3'262 |
| I3a1 | 5'070 | 3'017 |
| I3b | 5'596 | 3'629 |
| I4 | 14'913 | 5'955 |
| I4a | 2'124 | 6'113 |
| I5 | 18'806 | 4'005 |
| I5a | 15'116 | 4'128 |
| I5a1 | 11'062 | 4'661 |
| I6 | - | - |
| I6a | - | - |
Distribution
I1
| Haplogroup I1 |
|---|
| Possible time of origin |
15,231 ± 3,402 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I |
|---|
| Defining mutations |
455.1T, G6734A, G9966A, T16311C! (Behar & Family Tree DNA 2012) |
|---|
I1a
| Haplogroup I1a |
|---|
| Possible time of origin |
11,726 ± 3,306 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I1 |
|---|
| Defining mutations |
T152C!, G207A (Behar & Family Tree DNA 2012) |
|---|
I1a1
| Haplogroup I1a1 |
|---|
| Possible time of origin |
5,294 ± 2,134 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I1a |
|---|
| Defining mutations |
G203A, C3990T, G9947A, A9966G!, T10915C! (Behar & Family Tree DNA 2012) |
|---|
I1a1a
I1a1b
I1a1c
I1a1d
| Haplogroup I1a1d |
|---|
| Possible time of origin |
About 1,892 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I1a1 |
|---|
| Defining mutations |
A1836G, T4023C, T13488C, T16189C! (Behar & Family Tree DNA 2012) |
|---|
I1b
I1c
| Haplogroup I1c |
|---|
| Possible time of origin |
8,216 ± 3,787 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I1 |
|---|
| Defining mutations |
G8573A, C16264T, G16319A, T16362C (Behar & Family Tree DNA 2012) |
|---|
I2'3
| Haplogroup I2'3 |
|---|
| Possible time of origin |
11,308 ± 4,154 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I |
|---|
| Defining mutations |
T152C!, G207A (Behar & Family Tree DNA 2012) |
|---|
Examples of this ancestral branch have not been documented.
I2
I2a
| Haplogroup I2a |
|---|
| Possible time of origin |
3,771 ± 2,143 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I2 |
|---|
| Defining mutations |
A11065G, G16145A (Behar & Family Tree DNA 2012) |
|---|
I2a1
Current available data indicates that this may be a Northwestern European branch.
I2b
| Haplogroup I2b |
|---|
| Possible time of origin |
About 1,267 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I2 |
|---|
| Defining mutations |
T6515C, 8281-8289d, A16166c (Behar & Family Tree DNA 2012) |
|---|
I2c
I2d
I2e
I3
I3a
| Haplogroup I3a |
|---|
| Possible time of origin |
6,091 ± 3,262 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Oldest sample from Poltavka culture (Russia-Lopatino II, Sok River, Samara, 2885-2665 BC) (Mathieson 2015) |
|---|
| Ancestor |
I3 |
|---|
| Defining mutations |
T16086C (Behar & Family Tree DNA 2012) |
|---|
I3a1
I3b
I4
I4a
I5
I5a
| Haplogroup I5a |
|---|
| Possible time of origin |
15,116 ± 4,128 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I5 |
|---|
| Defining mutations |
T5074C, C16148T (Behar & Family Tree DNA 2012) |
|---|
I5a1
| Haplogroup I5a1 |
|---|
| Possible time of origin |
11,062 ± 4,661 Before Present (Behar 2012b) |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I5a |
|---|
| Defining mutations |
8281-8289d, A12961G (Behar & Family Tree DNA 2012) |
|---|
I6
| Haplogroup I6 |
|---|
| Possible time of origin |
Insufficient Data |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I |
|---|
| Defining mutations |
T3645C (Behar & Family Tree DNA 2012) |
|---|
I6a
| Haplogroup I6a |
|---|
| Possible time of origin |
Insufficient Data |
|---|
| Possible place of origin |
Insufficient Data |
|---|
| Ancestor |
I6 |
|---|
| Defining mutations |
(G203A), G3915A, A6116G, A7804G, T15287C, (A16293c) (Behar & Family Tree DNA 2012) |
|---|
See also
Genetics
Backbone mtDNA Tree
References
Footnotes
- ↑ Nikitin 2009: 6/53 in Lemkos
"Lemkos shared the highest frequency of haplogroup I ever reported and the highest frequency of haplogroup M* in the region." - ↑ Cvjetan 2004: 15/133
Works Cited
Journals
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Websites
Further reading
- Černý, Viktor; Pereira, Luísa; Kujanová, Martina; VašÍková, Alžběta; Hájek, Martin; Morris, Miranda; Mulligan, Connie J. (2009). "Out of Arabia-The settlement of Island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity". American Journal of Physical Anthropology. 138 (4): 439–47. doi:10.1002/ajpa.20960. PMID 19012329.
- Fellner, Robert O (1995). Cultural change and the epipalaeolithic of Palestine. Tempus Reparatum. ISBN 9780860547754.
- Kitchen, A.; Ehret, C.; Assefa, S.; Mulligan, C. J. (2009). "Bayesian phylogenetic analysis of Semitic languages identifies an Early Bronze Age origin of Semitic in the Near East". Proceedings of the Royal Society B: Biological Sciences. 276 (1668): 2703–10. doi:10.1098/rspb.2009.0408. PMC 2839953. PMID 19403539.
- Petit-Maire, Nicole; Bouysse, Philippe (2000). "Geological records of the recent past, a key to the near future world environments" (PDF). Episodes. Geological Society of Indiana.
External links
- ↑ Non, Amy. "ANALYSES OF GENETIC DATA WITHIN AN INTERDISCIPLINARY FRAMEWORK TO INVESTIGATE RECENT HUMAN EVOLUTIONARY HISTORY AND COMPLEX DISEASE" (PDF). University of Florida. Retrieved 12 April 2016.
- ↑ Rabab Khairat, Markus Ball, Chun-Chi Hsieh Chang, Raffaella Bianucci, Andreas G. Nerlich, Martin Trautmann, Somaia Ismail; et al. (4 April 2013). "First insights into the metagenome of Egyptian mummies using next-generation sequencing" (PDF). Journal of Applied Genetics. doi:10.1007/s13353-013-0145-1. Retrieved 8 June 2016.
- ↑ Sirak, Kendra; Frenandes, Daniel; Novak, Mario; Van Gerven, Dennis; Pinhasi, Ron (2016). Abstract Book of the IUAES Inter-Congress 2016 - A community divided? Revealing the community genome(s) of Medieval Kulubnarti using next- generation sequencing. IUAES.