Haplogroup I-M438

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Haplogroup I-M438
Possible time of origin probably >15 kya (see subclade descriptions)
Possible place of origin Southeastern Europe
Ancestor I-M170
Descendants I-L460, I-L1251
Defining mutations M438/P215/S31
Highest frequencies I2a2: Bosnia and Herzegovina,[1] I2a1: Sardinia[2]
The northern coverage area is mainly composed of the related I-M253 (I1) while I-M438 (I2) dominates in the south; both descendants of Haplogroup I-M170.

Haplogroup I2 (Y-DNA) is Continental Europe's Mesolithic paternal lineage. 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.

Origin and prehistoric presence[edit]

Haplogroup I-P37.2 has been identified in neolithic human remains in Europe. Two samples (10%) of ancient Y-DNA from Treilles, the type-site of a Late Neolithic group of farmers on the east Pyrenees shore on France's southern border, 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 90% others testing positive for Haplogroup G2a (p15+).[3] 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).[4]

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,[5] which updates (Ytree 2013) Karafet et al. (2008).[6]

  • I-M438 (L68 {rs35547782}, M438/P215/S31 {rs17307294}) Low frequency in Armenia, Georgia and Turkey.[7]
    • 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 northern Balkan 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[2]

I-L158[edit]

Haplogroup I-L158 (L158, L159.1/S169.1, M26) accounts for approximately 40% of all patrilines among the Sardinians.[8] 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[9] and 1.2% (3/257) of a sample of Czechs.[10] The age of YSTR variation for the M26 subclade has been calculated at 8.0±4.0 kya.[2]

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.[11]

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%).[1] Haplogroup I-L69.2 is also commonly found in north-eastern Italians.[12] There is also a high concentration of I-L69.2 in north-east Romania, Moldova and western Ukraine. Several groups have determined the common occurrence of this subclade in the South Slavic-speaking populations to be the result of "pre-Slavic" paleolithic settlement in the region. Peričić et al. for instance places its expansion to have occurred "not earlier than the YD to Holocene transition and not later than the early Neolithic”.[13][14][15] Decidedly, the Slavic population can be divided into two genetically distinct groups: one encompassing all Western-Slavic (Poles, Slovaks etc.), Eastern-Slavic (Russians, Ukrainians etc.), and a few Southern-Slavic populations (north-western Croats and Slovenes), characterized by Haplogroup R1a, and one encompassing all remaining Southern Slavs, and Rumanians, characterized by Haplogroup I2a2 (I-L69.2). According to Rebała et al., this phenomenon is explained by "contribution to the Y chromosomes of peoples who settled in the Balkan region before the Slavic expansion to the genetic heritage of Southern Slavs.."[16]

I-M223[edit]

The age of YSTR variation for the I-M223 subclade is 13.2±2.7 kya[2] and 12.3±3.1 kya.[11] 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.[17] 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.[18] 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.[citation needed]


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."[19] Where it is found in those of Irish descent with Gaelic surnames, this suggests an ancestor who arrived in Ireland from Celtic Britain.[19] 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.[19] While subclades of I-M284 are atypical of Ireland they are relatively common in continental Europe.[19] 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.[19]

See also[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A00 A0'1'2'3'4
A0 A1'2'3'4
A1 A2'3'4
A2'3 A4=BCDEF
A2 A3 B CDEF
DE CF
D E C F
GHIJKLT
G HIJKLT
H IJKLT
IJ KLT
I J LT K
L T MPS X
MS P NO
Q R N O
  1. ^ van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2013). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. doi:10.1002/humu.22468. PMID 24166809. 

References[edit]

  1. ^ a b 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. doi:10.1093/molbev/msi185. PMID 15944443.  Figure 3
  2. ^ 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. doi:10.1086/422196. PMC 1181996. PMID 15162323. 
  3. ^ 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.
  4. ^ 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. 
  5. ^ ISOGG Haplogroup I
  6. ^ 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)
  7. ^ ISOGG 2011
  8. ^ Rootsi, S. (2006). "Y-chromosome haplogroup I prehistoric gene flow in Europe" (PDF). Documenta Praehistorica 33: 17–20. 
  9. ^ 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.
  10. ^ 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. doi:10.1002/ajpa.20500. 
  11. ^ 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.
  12. ^ "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. 
  13. ^ Rootsi et al. Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe. Am J. Hum. Genet 75:128–137 2004.
  14. ^ Marjanović, Damir; et al. "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups." Institute for Genetic Engineering and Biotechnology, University of Sarajevo. November 2005.
  15. ^ 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. doi:10.1093/molbev/msi185. PMID 15944443. 
  16. ^ Rebała K., et al. (2007). Y-STR variation among Slavs: evidence for the Slavic homeland in the middle Dnieper basin. J Hum Genet. 2007;52(5):406-14. Epub 2007 Mar 16.
  17. ^ Jacques Chiaroni et al., Y chromosome diversity, human expansion, drift, and cultural evolution, PNAS (2009), corrected supplementary information.
  18. ^ 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
  19. ^ 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. 

External links[edit]

Relationship to haplogroups and subclades[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A00 A0'1'2'3'4
A0 A1'2'3'4
A1 A2'3'4
A2'3 A4=BCDEF
A2 A3 B CDEF
DE CF
D E C F
GHIJKLT
G HIJKLT
H IJKLT
IJ KLT
I J LT K
L T MPS X
MS P NO
Q R N O
  1. ^ van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2013). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. doi:10.1002/humu.22468. PMID 24166809. 
Haplogroup I
I1

I1a



I1b



I1c



I1d



I1e



I2

I2a



I2b



I2*