Haplogroup I-M438

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Haplogroup I-M438

I Distribution.jpg
Possible time of origin probably >15 kya (see subclade descriptions)
Possible place of origin Poland[citation needed]
Ancestor I-M170
Descendants I-L460, I-L1251
Defining mutations M438/P215/S31
Highest frequencies I2a2 Croatia, Herzegovina, Serbia, I2a1 Sardinia,[1] Basques; I2b1 Denmark, Germany, Sweden

In human genetics, Haplogroup I-M438 is a Y-chromosome haplogroup. Until 2008, it was known as Haplogroup I1b, but it is now named I2 (ISOGG 2013). Haplogroup I-M438 might have originated in Southeastern Europe some 15,000 - 17,000 years ago and developed into three main subgroups : I-M438*, I-L460, and I-L1251.

Contents

Origin and prehistoric presence [edit]

Haplogroup I Distribution (note that the northern coverage area is composed of mostly of I-M253 while the southern one by I-M438).

Haplogroup I-P37.2 has been identified in neolithic human remains in Europe. Two samples of ancient Y-DNA from Treilles, the type-site of a Late Neolithic group of farmers in the South of France, dated to about 3000 BC tested positive for M438 and P37.2. The culture predates the Bell Beaker and Corded Ware Culture in Europe. The remains were found in association with others testing positive for Haplogroup G2a (p15+).[2] A study of earlier Neolithic human remains at Derenburg Meerenstieg II in Germany linked to the Linear Band Culture dated to 5500-4900 BC found two remains that tested positive for Haplogroup F, but negative for haplogroup G,H,I,J or K (positive for M89 but negative for markers M201,M69, M170, M304, and M9). These remains were found in association with remains testing positive for G2a3 (SNP S126 or L30).[3]

Subclades [edit]

Note: The systematic subclade names have changed several times in recent years, and they are likely to change again, as new markers are discovered which clarify the sequential branching of the tree. The scheme below is taken from ISOGG,[4] which updates (Ytree 2013) Karafet et al. (2008).[5]

  • I-M438 (L68 {rs35547782}, M438/P215/S31 {rs17307294}) Low frequency in Armenia, Georgia and Turkey.[6]
    • I-L460 (L460)
      • I-P37.2 (P37.2)
        • I-M26 (L158, L159.1/S169.1, M26) Typical of the population of the so-called "archaic zone" of Sardinia; also found at low frequencies among populations of Southwest Europe, particularly in Castile, Béarn, and the Basque Country
          • I-L160 (L160)
            • I-M161 (M161) Very rare (1 in Puerto Rico)
          • I-L247 (L247,L277.2)
        • I-M423 (L178, M423)
          • I-L621 (Former I2a2a in the Y2010 tree) (L69.2, L621) low frequency in Great Britain (aka I2a Disles)
            • I-L147.5 (L147.5) Typical of the Balkan Slavic-speaking populations, especially the populations of Bosnia and Herzegovina and Croatia; also found with high frequency in Moldavia and Romania and high haplotype diversity values, but lower overall frequency, among the populations of Slovakia and the Czech Republic (aka I2a Dinaric)
              • I-P41.2 (P41.2/M359.2) Very rare (2 in Bosnia and Herzegovina, 1 in Turkey, 1 in England and 1 in Croatia)
          • I-L161 (L161) low frequency in Ireland and Great Britain (aka I2a Isles)
        • I-L233 (L233)
      • I-P214 (L35/S150, L37/S153, L181, M436/P214/S33, P216/S30, P217/S23, P218/S32)
        • I-M223 (L34/S151, L36/S152, L59, L368, M223, P219/S24, P220/S119, P221/S120, P222/U250/S118, P223/S117) Occurs at a moderate frequency among populations of Northwest Europe, with a peak frequency in the region of Lower Saxony in central Germany; offshoots appear in Romania, Moldova and Russia (especially around Vladimir, Ryazan, Nizhny Novgorod, and the Republic of Mordovia)
          • I-M284 (M284) Generally limited to a low frequency in Great Britain
            • I-L126 (L126/S165, L137/S166)
              • I-L369 (L369)
          • I-L701 (L701) I2a2a1b (ISOGG 2013).
            • I-P78 (P78). Makes the Continental 3 subclade.
            • I-L699 (L699/L703) I2a2a1b2 (ISOGG 2013)
              • I-L704 I2a2a1b2a (ISOGG 2013)
          • I-Z161 (Z161) I2a2a1c (ISOGG 2013). Makes the continental subclade of Haplogroup I2.
            • I-L801 (L801) I2a2a1c1 (ISOGG 2013). L801 seems to be equivalent to Z76.
              • I-CTS1977 (CTS1977) I2a2a1c1a (ISOGG 2013). Includes some of the Continental 2b subclade.
                • I-P95 (P95) I2a2a1c1a1 (ISOGG 2013)
              • I-CTS6433 (CTS6433) I2a2a1c1b (ISOGG 2013). Includes the Continental 1+2a and some of the 2b subclades.
                • I-Z78 (Z78) I2a2a1c1b1 (ISOGG 2013)
                  • I-L1198 (L1198) I2a2a1c1b1a (ISOGG 2013)
                    • I-Z190 (Z190) I2a2a1c1b1a1 (ISOGG 2013)
                      • I-Z79 (Z79) I2a2a1c1b1a1a (ISOGG 2013)
            • I-L623 (L623) I2a2a1c2 (ISOGG 2013). Makes the Continental 2c subclade.
        • I-L40(L38/S154, L39/S155, L40/S156, L65.1/S159.1, L272.3)
    • I-L415 (L415, L416, L417)
    • I-L596 (L596/S292, L597/S333)


I-P37.2 [edit]

The subclade divergence for I-P37.2 occurred 10.7±4.8 kya. The age of YSTR variation for the P37.2 subclade is 8.0±4.0 kya[1]

I-L158 [edit]

Haplogroup I-L158 (L158, L159.1/S169.1, M26) accounts for approximately 40% of all patrilines among the Sardinians.[7] It is also found at low to moderate frequency among populations of the Pyrenees (9.5% in Bortzerriak, Navarra; 9.7% in Chazetania, Aragon; 8% in Val d'Aran, Catalunya; 2.9% in Alt Urgell, Catalunya; and 8.1% in Baixa Cerdanya, Catalunya) and Iberia, and it has been found in 1.6% of a sample of Albanians living in the Republic of Macedonia[8] and 1.2% (3/257) of a sample of Czechs.[9] The age of YSTR variation for the M26 subclade has been calculated at 8.0±4.0 kya.[1]

I-L178 [edit]

I-L178 is very rare, but has been found in two persons from Germany and one from Poland. The age of YSTR variation for the M423 subclade is 8.8±3.6 kya.[10] Pericic places its expansion to have occurred "not earlier than the YD to Holocene transition and not later than the early Neolithic”.[11]

Haplogroup I-L178 Distribution
I-L69.2 [edit]

I-L69.2 (L69.2(=T)/S163.2) {rs9786274} is typical of the South Slavic populations of south-eastern Europe, being highest in Bosnia-Herzegovina (>50%).[12] Haplogroup I-L69.2 is also commonly found in north-eastern Italians.[13] There is also a high concentration of I-L69.2 in north-east Romania, Moldova and western Ukraine. In 2010 has Ken Nordtvedt argued that I-L69.2 is too young not to have been a result of a sudden expansion.[14] According to him I2a1b1 arose not earlier than 2500 years ago in Eastern Europe. He has presumed this to be a consequence from the Slavic invasion of the Balkans, from the area north-east of the Carpathians since 500 CE.[15] In 2011 Nordtvedt has confirmed I-L69.2 is not older than 2,800 years.[16] In his last comments about Haplogroup I tree and the conjectured spread map, he locates the start of the I-L69.2 lineage around the middle course of the Vistula.[17]

I-L161 [edit]

I-L161 has been found in low frequency in Ireland and Great Britain. Nordtvedt has supposed that around 15,000 years ago the two branch-lines of I-M423 eventually leading to I-L69.2 and I-L161 separated.

Famous I-P37.2 [edit]


I-M223 [edit]

The age of YSTR variation for the I-M223 subclade is 13.2±2.7 kya[1] and 12.3±3.1 kya.[10] I-M223 has a peak in Germany and another in eastern Sweden, but also appears in Romania/Moldova, Russia, Greece, Italy and around the Black Sea due to movement of Alans/Sarmatians/Scythians.[19] Haplogroup I2a2a has been found in over 4% of the population only in Germany, the Netherlands, Belgium, Denmark,probably moving tribes of Dacians. England (excluding Cornwall), Scotland, possibly descendants of the Iazyges, Legio VI Victrix, ] 175 410 AD, also 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; Moldavia and the area around Russia's Ryazan Oblast and Republic of Mordovia in Eastern Europe maybe Agathyrsi, Khazars. Of historical note, both haplogroups I-M253 and I-M223 appear at a low frequency in the historical regions of Bithynia and Galatia in Turkey, possibly descendants of the Thracians, Cataphract of Alexander the Great at 334 BC, and Varangians, who are historically recorded to have invaded those parts of Anatolia from the 9th to 11th centuries. They ventured southwards along the rivers of Eastern Europe, connecting Scandinavia with Constantinople and Byzantine Empire.[20] Haplogroup I2a2a also occurs among approximately 1% of the Sardinians - Vandals. The subclade divergence for M223 occurred 14.6±3.8 kya (Rootsi 2004).

Haplogroup I-M223 can be further subdivided in several subclades designated in the Y2012 ISOGG tree as follows: Haplogroup I-M223* with no further known polymorphisms, Haplogroup I-M284 defined by M284 polymorphism and including an undergroup Haplogroup I-L126 reserved for individuals derived for the L126/S165, L137/S166 polymorphisms, Haplogroup I-L701 associated with L701 polymorphism, and Haplogroup I-Z161 denoting individuals derived for the Z161 polymorphism.

I-Z161 is further subdivided into I-Z161* with no known polymorphisms, I-L801 defined by L801 polymorphism, and I-L623 designated by L623 polymorphism. I-L801 (L801) is further subdivided into I-L801* and I-P95, the latter being associated with the P95 polymorphism. Recently, several new SNPs have been identified including Z76, which is believed to be phyloequivalent with L801, and L812 Roots polymorphism. The recently added L801 Continental is estimated to be around 3000 years old. Other SNPs currently being investigated for placement in the tree include: Z78, Z79, Z190, and L1198, all of which are believed to be downstream of both Z161 and L801.[21]

I-M284 [edit]

I-M284 has been found almost exclusively among the population of Great Britain, suggesting that the clade may have arisen in that island. I-M284 is comparatively rare in Ireland except in the north-east. In regard to north-east Ireland, the presence of this subclade "provides some tentative evidence of ancient flow with eastern areas that could support the idea that the La Tene cultural package was accompanied by some migration."[22] Where it is found in those of Irish descent with Gaelic surnames, this suggests an ancestor who arrived in Ireland from Celtic Britain.[22] Men with several Gaelic surnames such as McGuinness and McCartan bear this subclade, family groups that have a historically recorded 6th-century common ancestor, thus it is not the result of known recent gene flow between Britain and Ireland.[22] While subclades of I-M284 are atypical of Ireland they are relatively common in continental Europe.[22] The observed mutational divergence between men with this subclade suggests its foundation very approximately at 300 BC, thus dates and geography are circumstantially associated but not securely with Iron Age continental Europe.[22]

Famous I-M223 [edit]

I-L38 [edit]

Present day distribution is generally limited to the Upper Rhine and British Isles.[23] Starting from the Upper Rhine, I-L38 spread during the Early Bronze Age in an area between Rhine, Danube and Elbe and I-L38 migrated in the Late Iron Age with the Celtic La Tène people, through Belgium, to the British Isles.[24]

Haplogroup I-L38 was found in the skeletal remains of Lichtenstein Cave, a Bronze Age archaeological site in central Germany associated with artifacts of the Urnfield culture.[25] Of the 19 males represented in the cave, 15 yielded the full 12 tested STR values, with twelve showing I-L38, one R1b, and two R1a. Of the 21 females in the cave, the majority were mtDNA H, with mtDNA U5b the runner-up. No radio-carbon dating was discussed and no metrics were assigned based on the adult remains, which are thought to be about 3000 years old. The small sample and their possible familial connections do not permit drawing conclusions regarding the overall contemporary population mixture.

The distribution and diversity of continental I-L38 samples with known geographical origin suggests that the Upper Rhine area (Rhineland–Palatinate) is the most likely point of origin of I-L38.[26]

Almost half of all present I-L38 (aka I2a2b) samples (49%) has a MCRA that goes back to time frames corresponding with Late Bronze Age (in casu Urnfield culture: 26%) and Iron Age cultures (23%). The core of the La Tène culture matches with the continental heartland of I-L38. From this area the La Tène culture spread to the British Isles.[27]

All network analyses of the I-L38 group contain a star-structure, indicating a demographic explosion and/or migration. Looking at the Rhineland demographics this could indicate a major migration in the times of the Great Migrations. It is a known fact that Ripuarian Francs migrated from the Rhine area to the west.[28]

German, French and Flemish I-L38 forefathers came to the British Isles with the Norman invasion of the 11th century. This also explains the presence of I-L38 in the Norman kingdom Sicily.[27]

In the 12th century I-L38 travelled to Eastern Europe in a migration called the Ostsiedlung. The bulk of these colonists, travelling to Hungary, came from Luxembourg, the Moselle region, the Rhineland, and the southern Low Countries.[29]

In the 17th century the Thirty Years' War shuffled the I-L38 heartland, leading to migrations to Britain, Ireland and North America. This war also made fleeing farmers nomadic (known as the white gypsies or Yenishe/Jenische).[27]

Most Dutch samples have a demonstrable and relatively recent German or Flemish background.[27]

Famous I-L38 [edit]


I-L596 [edit]

Haplogroup I-L596 is uncommon yet one of the oldest haplogroups within haplogroup I, with three main clades: (A) primarily in North West Europe, particularly Scotland and Ireland; (B) in the Caucasus region, with most members in Turkey and Armenia; and (C) in Central Europe. About 8000 years ago the I-L596 line split into the three groups A, B and C. The TMRCAs of these 3 groups are believed to be about 2000 to 5000 years ago (approx 50 to 80 generations). More recently a younger Jewish group (J) has branched from group B, which has a TMRCA of centuries (up to 30 plus generations).[30][31]

Famous I-L596 [edit]

See also [edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A0 A1
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
G H IJK
IJ K
I J LT K(xLT)
L T M NO P S
N O Q R

References [edit]

  1. ^ a b c d Rootsi, Siiri et al. (2004). "Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe" (PDF). American Journal of Human Genetics 75: 128–137. 
  2. ^ Marie Lacan, Christine Keyser, François-Xavier Ricaut, Nicolas Brucato, Francis Duranthon, Jean Guilaine, Eric Crubézy, and Bertrand Ludes, Ancient DNA reveals male diffusion through the Neolithic Mediterranean route, Proceedings of the National Academy of Sciences of the USA, online May 31, 2011 before print.
  3. ^ Haak, Wolfgang; et al (November 2010). "Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities". PLoS Biology 8 (11). doi:10.1371/journal.pbio.1000536. PMC 2976717. PMID 21085689. 
  4. ^ ISOGG Haplogroup I
  5. ^ Tatiana M. Karafet et al., New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree, Genome Research, doi:10.1101/gr.7172008 PMID 18385274 (2008)
  6. ^ ISOGG 2011
  7. ^ Rootsi, S. (2006). "Y-chromosome haplogroup I prehistoric gene flow in Europe" (PDF). Documenta Praehistorica 33: 17–20. 
  8. ^ Y-chromosomal evidence of the cultural diffusion of agriculture in Southeast Europe 17 (6). June 2009. pp. 820–830. doi:10.1038/ejhg.2008.249. PMC 2947100. PMID 19107149.  figure 2: Phylogeny of Y-chromosome haplogroups and their frequencies (%) in the examined populations.
  9. ^ Luca, F.; Giacomo, F. Di; Benincasa, T. et al. (2007). "Y-Chromosomal Variation in the Czech Republic". American Journal of Physical Anthropology 132: 132–139. 
  10. ^ a b Peter Underhill et al., New phylogenetic relationships for Y-chromosome haplogroup I: Reappraising its Phylogeography and Prehistory, in Rethinking the Human Evolution, ed. P. Mellars et al. (2007), pp. 33-42.
  11. ^ -1#Marijana, Peričić et al. (2005). "High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations". Molecular Biology and Evolution 22 (10): 1964–1975. 
  12. ^ Peričić, Marijana et al.. "High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations". Molecular Biology and Evolution 22 (10): 1964–1975.  Figure 3
  13. ^ "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe". European Journal of Human Genetics 17 (6). doi:10.1038/ejhg.2008.249. PMC 2947100. PMID 19107149. 
  14. ^ Genetics of Jews, 6 Jun 2010, Ken Nordtvedt
  15. ^ Russian I2a2a-Dinaric TMRCA, 2010.04.10 by Ken Nordtvedt.
  16. ^ Artificiality of Coalescence Age,6 Jun 2011, Ken Nordtvedt.
  17. ^ K. Nordtvedt's comments about Haplogroup I Tree and conjectured spread map.
  18. ^ Eupedia: Searching for famous I2 carriers
  19. ^ Jacques Chiaroni et al., Y chromosome diversity, human expansion, drift, and cultural evolution, PNAS (2009), corrected supplementary information.
  20. ^ http://books.google.com/books?id=H8R9LKwsM8AC&pg=PA7&dq=vikings+baghdad&hl=no&ei=NEnETdXJE8Tk4gbl8qWpBQ&sa=X&oi=book_result&ct=result&resnum=8&ved=0CFsQ6AEwBw#v=onepage&q=vikings%20baghdad&f=false
  21. ^ http://knordtvedt.home.bresnan.net/Tree%20for%20M223+.pdf
  22. ^ a b c d e McEvoy and Bradley, Brian P and Daniel G (2010). Celtic from the West Chapter 5: Irish Genetics and Celts. Oxbow Books, Oxford, UK. pp. 117 They identify this haplogroup subclade as a mutation of I1c, using the old nomenclature. ISBN 978-1-84217-410-4. 
  23. ^ In Search of the Origin of I-L38 (aka I2a2a)
  24. ^ De Beule, Hans (2010). "Early Bronze Age Origin and Late Iron Age (La Tène) Migrations of I-L38". The Russian Journal of Genetic Genealogy 1 (2): 47–55. Retrieved 8 May 2011. 
  25. ^ Lichtenstein Cave Data Analysis | Ken Nordtvedt: "The Lichtenstein cave ydna haplotypes show three from the new S23+(xM223) I2b* (ISOGG 2008) tree"
  26. ^ In Search of the Origin of I-L38 (aka I2a2b)
  27. ^ a b c d http://rjgg.molgen.org/index.php/RJGG/article/view/92
  28. ^ Https://sites.google.com/site/haplogroupil38/summary/expansion
  29. ^ Https://sites.google.com/site/haplogroupil38/summary/the-east-european-connection
  30. ^ World Families Surnames I2
  31. ^ K. Nordtvedt slides on haplogroup I

External links [edit]

Projects [edit]

Relationship to haplogroups and subclades [edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A0 A1
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
G H IJK
IJ K
I J LT K(xLT)
L T M NO P S
N O Q R
Haplogroup I
I1

I1a


I1b


I1c


I1d


I1e


I2

I2a


I2b


I2*



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