Haplogroup I-M438
Possible time of originprobably >15 kya (see subclade descriptions)
Possible place of originSoutheastern Europe
AncestorI-M170
DescendantsI2a, I2b
Defining mutationsM438/P215/S31
Highest frequenciesI2a2 Bosnia and Herzegovina, Croatia, 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. Haplogroup I-M438 might have originated in Southeastern Europe some 15,000 - 17,000 years ago and developed into three main subgroups : I-M438*, I2a, and I2b.

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

Origin and prehistoric presence

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

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 2011) Karafet et al. (2008).[5]

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..

I2

Haplogroup I2 (L68 + M438/P215/S31) is the least common 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. Over the last several years Haplogroup I2 and subclades I2a, I2b and I2c have been confirmed and continue to be developed. However, there is still a group of results that have been classified or predicted as I2*. The Timeline for this split appears to be around 14000 years ago that the I2a split, and shortly thereafter I2a2b and I2a2a parted ways. About 8000 years ago the I2* 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). The actual timeline of the split between groups B and J have not yet been identified.[7][8]

I-P37.2

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

Haplogroup I-L158 (L158, L159.1/S169.1, M26) accounts for approximately 40% of all patrilines among the Sardinians.[9] 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[10] and 1.2% (3/257) of a sample of Czechs.[11] The age of YSTR variation for the M26 subclade has been calculated at 8.0±4.0 kya.[1]

I-L178

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.[12] Pericic places its expansion to have occurred "not earlier than the YD to Holocene transition and not later than the early Neolithic”.[13]

File:HaplogroupI2.png
Haplogroup I-L178 Distribution

I-L69.2

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%).[14] Haplogroup I-L69.2 is also commonly found in north-eastern Italians.[15] 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.[16] 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.[17] In 2011 Nordtvedt has confirmed I-L69.2 is not older than 2,800 years.[18] 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.[19]

I-L161

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.

I-M223

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.[20] Haplogroup I2a2a has been found in over 4% of the population only in Germany, the Netherlands, Belgium, Denmark, England (excluding 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; Moldavia and the area around Russia's Ryazan Oblast and Republic of Mordovia in Eastern Europe. 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 Varangians, who are historically recorded to have invided 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.[21] Haplogroup I2a2a also occurs among approximately 1% of the Sardinians. The subclade divergence for M223 occurred 14.6±3.8 kya (Rootsi 2004). Haplogroup I2a2a can be further subdivided in several subclades designated in the Y2012 ISOGG tree as follows: Haplogroup I2a2a* with no further known polymorphisms, Haplogroup I2a2a1 defined by M284 polymorphism and including an undergroup Haplogroup I2a2a1a reserved for individuals derived for the L126/S165, L137/S166 polymorphisms, Haplogroup I2a2a2 associated with L701 polymorphism, and Haplogroup I2a2a3 denoting individuals derived for the Z161 polymorphism. I2a2a3 is further subdivided into I2a2a3* with no known polymorphisms, I2a2a3a defined by L801 polymorphism, and I2a2a3b designated by L623 polymorphism. I2a2a3a (L801) is further subdivided into I2a2a3a* and I2a2a3a1, the latter being associated with the P95 polymorphism. The age of YSTR variation for the M223 subclade is 13.2±2.7 kya[1] and 12.3±3.1 kya.[12] 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.[22]

Famous I2a2a

I-M284

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."[23] Where it is found in those of Irish descent with Gaelic surnames, this suggests an ancestor who arrived in Ireland from Celtic Britain.[23] 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.[23] While subclades of I-M284 are atypical of Ireland they are relatively common in continental Europe.[23] 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.[23]

I-L38

Present day distribution is generally limited to the Upper Rhine and British Isles.[24] 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.[25]

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.[26] 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.[27]

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.[28]

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.[29]

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.[28]

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.[30]

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).[28]

Most Dutch samples have a demonstrable and relatively recent German or Flemish background.[28]

See also

References

  1. ^ a b c d Siiri Rootsi et al., Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe, American Journal of Human Genetics, vol. 75 (2004), pp. 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 (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. ((cite journal)): Unknown parameter |coauthors= ignored (|author= suggested) (help); Unknown parameter |month= ignored (help)CS1 maint: unflagged free DOI (link)
  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. ^ World Families Surnames I2
  8. ^ K. Knordtvedt slides on haplogroup I
  9. ^ S. Rootsi, Y-chromosome haplogroup I prehistoric gene flow in Europe, Documenta Praehistorica, vol. 33 (2006), pp. 17-20.
  10. ^ Vincenza Battaglia et al, Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe, European Journal of Human Genetics, vol. 17, no. 6 (June 2009), pp. 820–830, figure 2: Phylogeny of Y-chromosome haplogroups and their frequencies (%) in the examined populations.
  11. ^ F. Luca, F. Di Giacomo, T. Benincasa et al., Y-Chromosomal Variation in the Czech Republic, American Journal of Physical Anthropology 132:132–139 (2007).
  12. ^ 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.
  13. ^ Marijana Peričić et al., High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations, Molecular Biology and Evolution, vol. 22, no. 10 (October 2005), pp. 1964-1975.
  14. ^ Marijana Peričić et al., High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations, Molecular Biology and Evolution, vol. 22, no. 10 (October 2005), pp. 1964-1975, Figure 3
  15. ^ Vincenza Battaglia et al., Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe, European Journal of Human Genetics advance online publication 24 December 2008.
  16. ^ Genetics of Jews, 6 Jun 2010, Ken Nordtvedt
  17. ^ Russian I2a2a-Dinaric TMRCA, 2010.04.10 by Ken Nordtvedt.
  18. ^ Artificiality of Coalescence Age,6 Jun 2011, Ken Nordtvedt.
  19. ^ K. Nordtwedt's comments about Haplogroup I Tree and conjectured spread map.
  20. ^ Jacques Chiaroni et al., Y chromosome diversity, human expansion, drift, and cultural evolution, PNAS (2009), corrected supplementary information.
  21. ^ 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
  22. ^ http://knordtvedt.home.bresnan.net/Tree%20for%20M223+.pdf
  23. ^ 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.
  24. ^ In Search of the Origin of I-L38 (aka I2a2a)
  25. ^ 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.
  26. ^ Lichtenstein Cave Data Analysis | Ken Nordtvedt: "The Lichtenstein cave ydna haplotypes show three from the new S23+(xM223) I2b* (ISOGG 2008) tree"
  27. ^ In Search of the Origin of I-L38 (aka I2a2b)
  28. ^ a b c d http://rjgg.molgen.org/index.php/RJGG/article/view/92
  29. ^ https://sites.google.com/site/haplogroupil38/summary/expansion
  30. ^ https://sites.google.com/site/haplogroupil38/summary/the-east-european-connection

External links

Projects

Relationship to haplogroups and subclades

Haplogroup I
I1

I1a

I1b

I1c

I1d

I1e

I2

I2a

I2b

I2*

Category