Haplogroup I-M170

Haplogroup I (M170) is a Y-chromosome DNA haplogroup. It is a subgroup of haplogroup IJ, which itself is a derivative of the haplogroup IJK. I-M170 is one of the most numerous haplogroups among European males.^[1] It can be found in most present-day European populations, with peaks in some Northern European and Southeastern European countries. Consequently, the haplogroup represents up to one-fifth of the male population of Europe, being the continent's second major Y-DNA haplogroup behind Haplogroup R. Haplogroup I-M170 Y-chromosomes have also been found among some populations of the Near East and Caucasus, Northeast Africa, America and Siberia. The haplogroup reaches its maximum frequency in the Dinaric Alps (with the highest concentration in present-day Herzegovina), where the men are on record as being the tallest in the world, with a male average height of 185.6 cm (6 ft 1.1 in).^[2]

An European point of origin for I-M170 is generally proposed as it is not found outside of Europe on Paleolithic remains. However, the discovery in 2012 of living examples of Haplogroup IJ* in Mazanderani from Iran and Persians from Fars, may indicate that IJ originated in Near East.^[3]

Origins

Spread of Cro-Magnons

European LGM refuges, 20 kya.

  Solutrean and Proto-Solutrean Cultures

  Epi-Gravettian Culture

Haplogroup IJ, carried by the Cro-Magnons was in the Middle East and/or Europe about 40,000 years ago. The TMRCA (time to most recent common ancestor) for the I clade was estimated by Karafet and colleagues in 2008 as 22.2 k.a. (22,200 years ago) with a confidence interval between 15.3-30.0 ka.,^[4] placing the Haplogroup I-M170 founding event approximately contemporaneous with the Last Glacial Maximum (LGM) which lasted from 26.5 ka to 19 or 20 ka.^[5] The TMRCA is an estimate of the time of subclade divergence. Rootsi and colleagues in 2004 also note two other dates for a clade, age of STR variation, and time since population divergence. These last two dates are roughly associated, and occur somewhat after subclade divergence. For Haplogroup I-M170 they estimate time to STR variation as 24±7.1 ky and time to population divergence as 23±7.7 ky.^[6] These estimates are consistent with those of Karafet 2008 cited above. However Underhill and his colleagues calculate the time to subclade divergence of I1 and I2 to be 28.4±5.1 ky, though they calculate the STR variation age of I1 at only 8.1±1.5 kya.^[7]

Semino (2000) speculated that the initial dispersion of this population corresponds to the diffusion of the Gravettian culture.^[8] Later the haplogroup, along with two cases of Haplogroup C, was found on human remains belonging to the culture and on individuals of the Magdalenian and Azilian cultures.^[9] Rootsi and colleagues in 2004 suggested that each of the ancestral populations now dominated by a particular subclade of Haplogroup I-M170 experienced an independent population expansion immediately after the last glacial maximum.^[6]

In 2016, the 31,210-34,580 year old remains of a hunter gatherer from Paglicci was found with haplogroup I.^[10] So far, only the ancestor of I Haplogroup F and Haplogroup C1b have been documented once each on older remains in Europe. The five known cases of haplogroup I from Paleolithic European human remains make it the most frequent haplogroup from that period.^[9] The leading frequency of I remains on Mesolithic European remains until ca. 6000 BC. Due to the arrival of the Early Farmers I is outnumbered by Haplogroup G representatives on Neolithic European remains and by Haplogroup R on later remains. The earliest documentation of I1 is from Neolithic Hungary, although it must have separated from I2 longer ago. An instance, on which haplogroup I was found outside of Europe was at 2,000 year old remains from Mongolia.^[11]

As of 2015 researches, the earliest light eyes and light hair of hominid (Homo Sapiens) individuals after the long extinct Neandarthals have been documented at 8,000 years old remains in Motala, Sweden, belonging to subclades of Haplogroup I2 and mitochondrial Haplogroup U5.^[12][13][14] An I2a1 carrier was a carrier of red hair and others of genes of blond/light hair, while all the Mortala hunter-gatherers were light skinned and blue eyed males. However, 8-9,000 years old R1a remains from Karelia belonged to a light skinned male, while 17,000 years old light skin genes have been found in Siberia on a Haplogroup R carrier.

It would seem to be that separate waves of population movement impacted Southeastern Europe. The role of the Balkans as a long-standing corridor to Europe from Southwestern Asia is shown by the phylogenetic origins of Haplogroups I and J in the parent haplogroup IJ and the M429 mutation. This common ancestry suggests that subclades of the ancestral Haplogroup IJ-M429 probably entered Europe through the Balkans sometime before the Last Glacial Maximum. I and J were subsequently distributed in Asia and Europe in a disjunctive phylogeographic pattern typical of "sibling" haplogroups. A natural geographical corridor like the Balkans is likely to have been used later by members of other subclades of IJ, as well as other haplogroups, including Early European Farmer.

The discovery of Haplogroup IJK – the ancestor of both haplogroups IJ and K (M9) – and its evolutionary distance from other subclades of Haplogroup F (M89), supports the inference that both IJ-M429 and K-M9 arose in Southwestern Asia. Living carriers of F-M89* and IJ-M429* have been reported in the Iranian plateau.^[3]

Haplogroups in Europe

Distribution

Frequencies of Haplogroup I:

Subgroups

The subclades of Haplogroup I-M170 with their defining mutations:^[98]

• I-M170 ( L41, M170, M258, P19_1, P19_2, P19_3, P19_4, P19_5, P38, P212, Page123, U179) Middle East, Caucasus, Europe.
  • I-M253 Haplogroup I1 (L64, L75, L80, L81, L118, L121/S62, L123, L124/S64, L125/S65, L157, L186, L187, M253,M307.2/P203.2, M450/S109, P30, P40, S63, S66, S107, S108, S110, S111) Typical of populations of Scandinavia and Northwest Europe, with a moderate distribution throughout Eastern Europe In Anatolia at 1%^[99]
  • I1 L64, L75, L80, L81, L118, L121/S62, L123, L124/S64, L125/S65, L157.1, L186, L187, L840, M253, M307.2/P203.2, M450/S109, P30, P40, S63, S66, S107, S108, S110, S111
    • I1a DF29/S438
      • I1a1 CTS6364/Z2336
        • I1a1a M227
          • I1a1a1 M72
        • I1a1b L22/S142
          • I1a1b1 P109
          • I1a1b2 L205
          • I1a1b3 L287
            • I1a1b3a L258/S335
              • I1a1b3a1 L296
          • I1a1b4 L300/S241
          • I1a1b5 L813/Z719
      • I1a2 S244/Z58
        • I1a2a S246/Z59
          • I1a2a1 S337/Z60, S439/Z61, Z62
            • I1a2a1a Z140, Z141
              • I1a2a1a1 Z2535
                • I1a2a1a1a L338
              • I1a2a1a2 F2642
            • I1a2a1b Z73
            • I1a2a1c L573
            • I1a2a1d L1248
              • I1a2a1d1 L803
          • I1a2a2 Z382
        • I1a2b S296/Z138, Z139
          • I1a2b1 Z2541
      • I1a3 S243/Z63
        • I1a3a L1237
    • I1b Z131 ^[100]
• I2 L68/PF3781/S329, M438/P215/PF3853/S31
  • I2a L460/PF3647/S238
    • I2a1 P37.2
      • I2a1a L158/PF4073/S433, L159.1/S169.1, M26/PF4056
        • I2a1a1 L160/PF4013
      • I2a1b L178/S328, M423
        • I2a1b1 M359.2/P41.2
        • I2a1b2 L161.1/S185
        • I2a1b3 L621/S392
          • I2a1b3a L147.2
      • I2a1c L233/S183
    • I2a2 L35/PF3862/S150, L37/PF6900/S153, L181, M436/P214/PF3856/S33, P216/PF3855/S30, P217/PF3854/S23, P218/S32
      • I2a2a L34/PF3857/S151, L36/S152, L59, L368, L622, M223, P219/PF3859/S24, P220/S119, P221/PF3858/S120, P222/PF3861/U250/S118, P223/PF3860/S117, Z77
        • I2a2a1 CTS616, CTS9183
          • I2a2a1a M284
            • I2a2a1a1 L1195
              • I2a2a1a1a L126/S165, L137/S166, L369
              • I2a2a1a1b L1193
          • I2a2a1b L701, L702
            • I2a2a1b1 P78
            • I2a2a1b2 L699, L703
              • I2a2a1b2a L704
          • I2a2a1c Z161
            • I2a2a1c1 L801/S390
              • I2a2a1c1a CTS1977
                • I2a2a1c1a1 P95
              • I2a2a1c1b CTS6433
                • I2a2a1c1b1 Z78
                  • I2a2a1c1b1a L1198
                    • I2a2a1c1b1a1 Z190
                      • I2a2a1c1b1a1a S434/Z79
            • I2a2a1c2 L623, L147.4
          • I2a2a1d L1229
            • I2a2a1d1 Z2054
              • I2a2a1d1a L812/S391
            • I2a2a1d2 L1230
        • I2a2a2 L1228
      • I2a2b L38/S154, L39/S155, L40/S156, L65.1/S159.1, L272.3
        • I2a2b1 L533
  • I2b L415, L416, L417
  • I2c L596/PF6907/S292, L597/S333

Note that the naming of some of the subgroups has changed, as new markers have been identified, and the sequence of mutations has become clearer..

I-M170

The composite subclade I-M170 contains individuals directly descended from the earliest members of Haplogroup I, bearing none of the subsequent mutations which identify the remaining named subclades.

Several haplogroup I*-M170 individuals who do not fall in known subclades, with some of the greatest Y-STR diversity, have significantly been found among the populations of Turkey (8/741), Adygea (2/138), and Iraq (1/176),even though as a whole Haplogroup I-M170 occurs at only very low frequencies among modern populations of the Middle East and Caucasus. This is consistent with the belief that the haplogroup first appeared in that region. Overall, the highest frequencies of Haplogroup I*-M170 appear to be found among the Andalusians (3/103), French (4/179), Slovenians (2/55), Tabassarans (1/30)^[101] and the Saami (1/35). The greatest figure so far for I* was among the Laks in Dagestan, at a rate of (3/21).^[101]

Neither study from which the previous figures were drawn excluded the present I2-M438 clade as a whole, but only certain subclades, so this I* may or may not belong to I2. A single Hazara from Afghanistan was found to carry I* excluding both I1-M253 and I2-M438.^[102]

I1-M253

Haplogroup I1-M253 (M253, M307, P30, P40) displays a very clear frequency gradient, with a peak frequency of approximately 35% among the populations of southern Norway, southwestern Sweden, and Denmark, and rapidly decreasing frequencies toward the edges of the historically Germanic-influenced world. A notable exception is Finland, where frequency in West Finns is up to 40%, and in certain provinces like Satakunta more than 50%.

Outside Fennoscandia, distribution of Haplogroup I1-M253 is closely correlated with that of Haplogroup I2a2-M436; but among Scandinavians (including both Germanic and Uralic peoples of the region) nearly all the Haplogroup I-M170 Y-chromosomes are I1-M253. Another characteristic of the Scandinavian I1-M253 Y-chromosomes is their rather low haplotype diversity (STR diversity): a greater variety of Haplogroup I1-M253 Y-chromosomes has been found among the French and Italians, despite the much lower overall frequency of Haplogroup I1-M253 among the modern French and Italian populations.

I2-M438

Haplogroup I2-M438, previously I1b, may have originated in southern Europe – it is now found at its highest frequencies in the western Balkans and Sardinia – some 15,000–17,000 years ago and developed into three main subgroups : I2-M438*, I2a-L460, I2b-L415 and I2c-L596.

I2a1a-M26

Haplogroup I2a1a-M26 is notable for its strong presence in Sardinia. Haplogroup I-M170 comprises approximately 40% of all patrilines among the Sardinians, and I2a1a-M26 is the predominant type of I among them.

Haplogroup I2a1a-M26 is practically absent east of France and Italy,^[103] while it is found at low but significant frequencies outside of Sardinia in the Balearic Islands, Castile-León, the Basque Country, the Pyrenees, southern and western France, and parts of the Maghreb in North Africa, Great Britain, and Ireland. Haplogroup I2a1a-M26 appears to be the only subclade of Haplogroup I-M170 found among the Basques, but appears to be found at somewhat higher frequencies among the general populations of Castile-León in Spain and Béarn in France than among the population of ethnic Basques. The M26 mutation is found in native males inhabiting every geographic region where megaliths may be found, including such far-flung and culturally disconnected regions as the Canary Islands, the Balearic Isles, Corsica, Ireland, and Sweden.^[103]

The distribution of I2a1a-M26 also mirrors that of the Atlantic Bronze Age cultures, which indicates a potential spread via the obsidian trade or a regular maritime exchange of some of metallurgical products.^[103]

I2a1b-M423

Haplogroup I2a1b-M423 is the most frequent Y-chromosome Haplogroup I-M170 in Central and Eastern European populations, reaching its peak in the Western Balkans, most notably in Dalmatia (50-60%^[26]) and Bosnia-Herzegovina (up to 71%,^[104] avg. 40-50%^[26]). A greater variance of this group has been found in Ireland and Great Britain, but overall frequency is very low (2-3%). Haplogroup I2a1b-M423 is virtually absent in Fennoscandia, Western and Southwestern Europe.

I2a2-M436

The distribution of Haplogroup I2a2-M436 (M436/P214/S33, P216/S30, P217/S23, P218/S32) is closely correlated to that of Haplogroup I1 except in Fennoscandia, which suggests that it was probably harbored by at least one of the Paleolithic refuge populations that also harbored Haplogroup I1-M253; the lack of correlation between the distributions of I1-M253 and I2a2-M436 in Fennoscandia may be a result of Haplogroup I2a2-M436's being more strongly affected in the earliest settlement of this region by founder effects and genetic drift due to its rarity, as Haplogroup I2a2-M436 comprises less than 10% of the total Y-chromosome diversity of all populations outside of Lower Saxony. Haplogroup I2a2-M436 has been found in over 4% of the population only in Germany, the Netherlands, Belgium, Denmark, England (not including Cornwall), Scotland, and the southern tips of Sweden and Norway in Northwest Europe; the provinces of Normandy, Maine, Anjou, and Perche in northwestern France; the province of Provence in southeastern France; the regions of Tuscany, Umbria, and Latium in Italy; and Moldavia and the area around Russia's Ryazan Oblast and Republic of Mordovia in Eastern Europe. One subclade of Haplogroup I2a2-M436, namely I2a2a1a1-M284, has been found almost exclusively among the population of Great Britain, which has been taken to suggest that the clade may have a very long history in that island. It is notable, however, that the distributions of Haplogroup I1-M253 and Haplogroup I2a2-M436 seem to correlate fairly well with the extent of historical influence of Germanic peoples. The punctual presence of both haplogroups at a low frequency in the area of the historical regions of Bithynia and Galatia in Turkey may be related to the Varangian Guard or rather suggests a connection with the ancient Gauls of Thrace, several tribes of which are recorded to have immigrated to those parts of Anatolia at the invitation of Nicomedes I of Bithynia. This suggestion is supported by recent genetic studies regarding Y-DNA Haplogroup I2b2-L38 have concluded that there was some Late Iron Age migration of Celtic La Tène people, through Belgium, to the British Isles including north-east Ireland.^[105]

Haplogroup I2a2-M436 also occurs among approximately 1% of Sardinians, and in Hazaras from Afghanistan at 3%.^[106]

Specifications of mutation

The technical details of U179 are:

Nucleotide change (rs2319818): G to A

Position (base pair): 275

Total size (base pairs): 220

Forward 5′→ 3′: aaggggatatgacgactgatt

Reverse 5′→ 3′: cagctcctcttttcaactctca

See also

• Haplogroup
• Human Y-chromosome DNA haplogroups
• Haplogroup I1 (Y-DNA)
• Haplogroup I2 (Y-DNA)
• Late Glacial Maximum
• Proto-Indo-Europeans

References

Notes

External links

Phylogenetic tree and distribution maps

• Y-DNA Haplogroup I-M170 and Its Subclades from the International Society of Genetic Genealogy (ISOGG)of 2013
• Phylogeography of Y-Chromosome Haplogroup I
• Frequency Distributions of Y-DNA Haplogroup I and its subclades - with Video Tutorial
• Frequency and Variance of I1b (now considered I2a2-M26)
• Map of 'I1a' (now considered I-M253)
• Map of 'I1b' (now considered I2a-P37.2)
• Map of 'I1c' (now considered I2b-M223)
• Rescalled Haplogroup I Tree (K. Nordtvedt 2011).

Projects

• I Project at FTDNA
• I1 Project at FTDNA
• I2* Project at FTDNA
• I2a project at FTDNA
• I2b project at FTDNA
• I2b2 L38+ project at FTDNA
• The Scandinavian yDNA Genealogical Project at FTDNA
• The Finland Genealogical Project at FTDNA

Other

• Study of Y-Haplogroup I and Modal Haplotypes
• The Y Chromosome Consortium (YCC)
• Example haplotypes from I1* "y cluster"
• YCC Haplogroup I page - I1a (now considered I-M253), I1b (now considered I-P37.2) and I1c (now considered I-M223)
• Haplo-I Subclade Predictor
• Spread of Haplogroup I, from National Geographic
• I2b2 Y-DNA found in Bronze Age skeletons of Lichtenstein Cave
• Haplogroup I-L38 (I2b2) In Search of the Origin of I-L38 (aka I2b2)