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Haplogroup I-M438, also known asI2 (ISOGG 2019), is a humanDNAY-chromosomehaplogroup, a subclade ofhaplogroup I-M170. Haplogroup I-M438 originated some time around 26,000–31,000 BCE. It originated in Europe and developed into several main subgroups: I2-M438*, I2a-L460, I2b-L415 and I2c-L596.[2] The haplogroup can be found all over Europe and reaches its maximum frequency in theDinaric Alps (Balkans) viafounder effect, related to the migrations of theEarly Slavs to the Balkan peninsula.
The oldest example so far found is that ofHohle Fels (49) fromGermany, being at least 14,200 years old.[4]
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Haplogroup I2a was the most frequent Y-DNA amongMesolithicWestern European hunter-gatherers (WHG) belonging to Villabruna Cluster. A 2015 study found haplogroup I2a in 13,500 year old remains from theAzilian culture (fromGrotte du Bichon, modernSwitzerland).[5] Subclades of I2a1 (I-P37.2), namely I-M423 and I-M26, have been found in remains of WHGs dating from 10,000 to 8,000 yearsbefore present.[6]
In a 2015 study published inNature, the remains of six individuals fromMotala ascribed to theKongemose culture were successfully analyzed. With regards toY-DNA, two individuals were ascribed tohaplogroup I2a1b, one individual was ascribed tohaplogroup I2a1, and one individual was ascribed to haplogroup I2c.[7]
TheI-P37.2+ (also known asI2a1a) (ISOGG 2019). 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] It is the predominant version of I2 in Eastern Europe.[8] The I2a is further made up by subgroups I-M26, I-M423, I-L1286, I-L880.
Haplogroup I-L158 (L158, L159.1/S169.1, M26) accounts for approximately 40% of allpatrilines amongSardinians.[9][10] It is also found at low to moderate frequency among populations of thePyrenees (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) andIberia, and it has been found in 1.6% of a sample ofAlbanians living in theRepublic of North Macedonia[11] and 1.2% (3/257) of a sample ofCzechs.[12] The age of YSTR variation for the M26 subclade has been calculated as 8.0±4.0 kya.[2]
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.[1]
The approximate frequency and variance distribution of haplogroup I-P37 clusters, ancestral "Dnieper-Carpathian" (DYS448=20) and derived "Balkan" (DYS448=19: represented by a single SNP I-PH908), in Eastern Europe per O.M. Utevska (2017).
I2a1a2b-L621 is typical of theSlavic populations, being highest inSoutheastern European regions ofBosnia-Herzegovina andSouth Croatia (>45%),[3][13][14] inCroats (37.7-69.8%),Bosniaks (43.53-52.17%), andSerbs (36.6-42%)—often called "Dinaric".[15] It has the highest variance and concentration inEastern Europe (i.e.,Ukraine,Southeastern Poland,Belarus).[16] According to YFull YTree it formed 11,400YBP and hadTMRCA 6,500YBP, while its main subclades lineage is I-CTS10936 (6,500-5,600 YBP) > I-S19848 (5,600 YBP) > I-CTS4002 (5,600-5,100 YBP) > I-CTS10228 (5,100-3,400 YBP) > I-Y3120 (3,400-2,100 YBP) > I-Y18331 (2,100 YBP) / I-Z17855 (2,100-1650 YBP) / I-Y4460 (2,100 YBP) / I-S17250 (2,100-1,850 YBP) > I-PH908 (1,850-1,700 YBP).[17]
Older research considered that the high frequency of this subclade in theSouth Slavic-speaking populations to be the result of "pre-Slavic"paleolithic settlement in the region. Peričićet al. (2005) for instance placed its expansion to have occurred "not earlier than theYD toHolocene transition and not later than the earlyNeolithic".[2][3][18][19] However, the prehistoricautochthonous origin of the haplogroup I2 in the Balkans is now considered as outdated,[nb 1] as already Battagliaet al. (2009) observed highest variance of the haplogroup inUkraine, and Zupanet al. (2013) noted that it suggests it arrived withSlavic migration from the homeland which was in present-day Ukraine.[24] O.M. Utevska (2017), in her PhD thesis, despite being a part of research team who came to a different conclusion in 2015,[25] proposed that the haplogroup STRhaplotypes have the highest diversity in Ukraine, with ancestral STR marker result "DYS448=20" comprising "Dnieper-Carpathian" cluster, while younger derived result "DYS448=19" comprising the "Balkan cluster" which is predominant among the South Slavs.[16] According to her, this "Balkan cluster" also has the highest variance in Ukraine, which indicates that the very high frequency in the Western Balkan is probably because of afounder effect.[16] Utevska calculated that the STR cluster divergence and its secondary expansion from the middle reaches of the Dnieper river or fromEastern Carpathians towards the Balkan peninsula happened approximately 2,860 ± 730 years ago, relating it to the times before Slavs, but much after the decline of theCucuteni–Trypillia culture.[16] However, STR-based calculations give overestimated dates,[26][27] and more specifically, the "Balkan cluster" is represented by a single SNP, I-PH908, known as I2a1a2b1a1a1c inISOGG phylogenetic tree (2019), and according to YFull YTree it formed and had TMRCA approximately 1,850-1,700 YBP (2nd-3rd century AD).[17]
It is considered that I-L621 could have been present in the Cucuteni–Trypillia culture,[28] but until now was mainly foundG2a and non-I2-L621 clades,[29][30] and another clade I2a1a1-CTS595 was present in theBaden culture of theChalcolithic Carpathian Basin.[28][31][32] Although it is dominant among the modern Slavic peoples on the territory of the former Balkan provinces of theRoman Empire, until now it was not found among the samples from the Roman period and is almost absent in contemporary population ofItaly.[15] According to Pamjavet al. (2019) and Fóthiet al. (2020), the distribution of ancestral subclades like of I-CTS10228 among contemporary carriers indicates a rapid expansion from SoutheasternPoland, is mainly related to the Slavs and their medieval migration, and the "largest demographic explosion occurred in the Balkans".[15][33] According to a 2023 archaeogenetic study, I2a-L621 is absent in the antiquity and appears only since the Early Middle Ages "always associated with Eastern European related ancestry in the autosomal genome, which supports that these lineages were introduced in the Balkans by Eastern European migrants during the Early Medieval period."[34]
Some of the earliest archeogenetic samples until now isSungir 6 (~900 YBP) nearVladimir, Russia which belonged to the I-S17250 > I-Y5596 > I-Z16971 > I-Y5595 > I-A16681 subclade,[35][36] as well I-CTS10228 and I-Y3120 subclades found in twoVikings from Sweden (VK53) and Ukraine (VK542) with predominantly Slavic ancestry of which the second belongs toGleb Svyatoslavich (11th century).[37] It was also found in the skeletal remains ofHungarian conquerors of theCarpathian Basin from the 9th century, part of Western Eurasian-Slavic component of the Hungarians.[15][28][38]
Haplogroup I-M223 aka I2a1b1 (ISOGG 2019), formerly I2a2a (ISOGG 2014). The age of YSTR variation for the I-M223subclade has been variously estimated as 13.2±2.7 kya,[2] 12.3±3.1 kya.,[1] 14.6 kya[39] and 14.6±3.8 kya (Rootsi 2004). I-M223 has a peak in Germany and another in the northeast of Sweden, but also appears inRomania/Moldova, Russia, Greece, Italy and around the Black Sea.[40] Haplogroup I-M223 has been found in over 4% of the population only inGermany, theNetherlands,Belgium,Denmark,Scotland, andEngland – also the southern tips ofSweden andNorway in Northwest Europe; the provinces ofNormandy,Maine,Anjou, andPerche in northwesternFrance; the province ofProvence in southeastern France; the regions ofTuscany,Umbria, andLatium inItaly;Moldavia and the area around Russia'sRyazan Oblast andMordovia in Eastern Europe. Of historical note, both haplogroups I-M253 and I-M223 appear at a low frequency in the historical regions ofBithynia andGalatia inTurkey. Haplogroup I-M223 also occurs among approximately 1% ofSardinians.
Haplogroup I2a1b1a1a (ISOGG 2019) or I-M284, has been found almost exclusively amongst the populations of theUnited Kingdom andIreland suggesting that it may have arisen amongst theAncient Britons, with amost recent common ancestor (MRCA) who lived about 3,100 yearsBP.[41] The presence of this subclade "provides some tentative evidence of ancient flow with eastern areas that could support the idea that the [late Celtic]La Tene culture was accompanied by some migration."[42]
Where it is found in those of predominately Irish descent, withGaelic surnames, it may suggest an ancestor who arrived in Ireland during prehistory, from Celtic Britain.[42] For example, I-M284 includes many males with the surnames McGuinness and McCartan, who have a single, historically recorded male ancestor in the 6th century; thus it is unlikely to be the result of subsequent migration from Britain to Ireland.[42] Some subclades of I-M284 that are atypical of Ireland are relatively common in continental Europe,[42] which also supports a point of origin east of Ireland.
Haplogroup I2a1b1a2b (ISOGG 2019). Z161+ defines the I2 Continental clade 1 and 2. Its age is estimated around 7,000 years old. It is mainly found in North Europe, especially in Denmark, Germany, the Netherlands, and England. In Northwest Sicily it can also be found.
Called Continental 3. Continental 3 has a wide distribution. Found in Central Europe from Germany, Austria to Poland, Romania and Ukraine, but also in lower frequencies in Greece, Italy, France, Spain, England, Ireland, and Armenia. It may have been disseminated in part by theGoths. It is nearly absent from Scandinavia and Scotland.
^The SNP I-P37 itself formed approximately 21,000YBP and hadTMRCA 18,400 YBP according to YFull YTree,[20] being too old and widespread as an SNP for argumentation of ancient autochthony or medieval migration as well the old research used outdated nomenclature. According to "I-P37 (I2a)" project atFamily Tree DNA, the divergence at STR marker DYS448 20 > 19 is reported since 2007,[21] while the SNP which defines the STR Dinaric-South cluster, I-PH908, is reported since 2014.[22] The SNP I-PH908 atISOGG phylogenetic tree is named as I2a1a2b1a1a1c,[23] while formed and had TMRCA approximately 1,800 YBP according to YFull.[17]
^abcUnderhill PA, Myres NM, Rootsi S, Chow CT, Lin AA, Otillar RP, et al. (2007). "New phylogenetic relationships for Y-chromosome haplogroup I: Reappraising its Phylogeography and Prehistory". In Mellars P, Boyle K, Bar-Yosef O, Stringer C (eds.).Rethinking the Human Evolution. McDonald Institute for Archaeological Research. pp. 33–42.ISBN978-1-902937-46-5.
^Mršić G, Gršković B, Vrdoljak A, Popović M, Valpotić I, Anđelinović Š, et al. (July 2012). "Croatian national reference Y-STR haplotype database".Molecular Biology Reports.39 (7):7727–7741.doi:10.1007/s11033-012-1610-3.PMID22391654.S2CID18011987.
^abcdFóthi E, Gonzalez A, Fehér T, Gugora A, Fóthi Á, Biró O, Keyser C (2020)."Genetic analysis of male Hungarian Conquerors: European and Asian paternal lineages of the conquering Hungarian tribes".Archaeological and Anthropological Sciences.12 (1) 31.Bibcode:2020ArAnS..12...31F.doi:10.1007/s12520-019-00996-0.We looked at 16 loci from 640 I2a-L621 samples in FTDNA's I2a project database and found that 7 individuals were 2 genetic steps away the Karos samples, of whom 1 was a Hungarian from Kunszentmárton, 2 were Ukrainians, 1 was Lithuanian, 1 was Belarusian, 1 was Russian, and 1 was a German from Poland. Based on SNP analysis, the CTS10228 group is 2200 ± 300 years old. The group's demographic expansion may have begun in Southeast Poland around that time, as carriers of the oldest subgroup are found there today. The group cannot solely be tied to the Slavs, because the proto-Slavic period was later, around 300–500 CE ... The SNP-based age of the Eastern European CTS10228 branch is 2200 ± 300 years old. The carriers of the most ancient subgroup live in Southeast Poland, and it is likely that the rapid demographic expansion which brought the marker to other regions in Europe began there. The largest demographic explosion occurred in the Balkans, where the subgroup is dominant in 50.5% of Croatians, 30.1% of Serbs, 31.4% of Montenegrins, and in about 20% of Albanians and Greeks. As a result, this subgroup is often called Dinaric. It is interesting that while it is dominant among modern Balkan peoples, this subgroup has not been present yet during the Roman period, as it is almost absent in Italy as well (see Online Resource 5; ESM_5). ... Their genetic haplogroup, I2a-CTS10228, is widespread among Slavs, but it is only present in 7% of Caucasian peoples, namely among the Karachay ... As such, it appears that the I2a-CTS10228 haplogroup in the paternal lineage of the Karos leaders arises from a specific branch in the Northern Caucasus dating to about 400–500 CE. Its modern descendents live among the Karachay, Hungarians, and various other surrounding nationalities.
^Marjanovic D, Fornarino S, Montagna S, Primorac D, Hadziselimovic R, Vidovic S, et al. (November 2005). "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups".Annals of Human Genetics.69 (Pt 6):757–763.doi:10.1111/j.1529-8817.2005.00190.x.PMID16266413.S2CID36632274.
^"I2a Y-Haplogroup - Results: I2a2a-Dinaric".Family Tree DNA. Retrieved11 November 2018.Ken Nordtvedt has split I2a2-M423-Dinaric into Din-N and Din-S. Din-N is older than Din-S. N=north of the Danube and S=south of the Danube River ... May 8, 2007: Dinaric I1b1 and DYS 448. DYS448 19 for S and 20 for N.
^Zupan A, Vrabec K, Glavač D (2013). "The paternal perspective of the Slovenian population and its relationship with other populations".Annals of Human Biology.40 (6):515–526.doi:10.3109/03014460.2013.813584.PMID23879710.S2CID34621779.
^Šarac J, Šarić T, Havaš Auguštin D, Novokmet N, Vekarić N, Mustać M, et al. (November 2016). "Genetic heritage of Croatians in the Southeastern European gene pool-Y chromosome analysis of the Croatian continental and Island population".American Journal of Human Biology.28 (6):837–845.doi:10.1002/ajhb.22876.PMID27279290.S2CID25873634.It is important to stress that the proposed old age of the I2a1b-M423 and R1a1a1b1a*-M558 lineages obtained in previous studies (Battaglia et al., 2009; Peričić et al., 2005; Rootsi et al., 2004; Underhill et al., 2007, 2015) has been based on STR analysis (8 and 10 loci, respectively) and recent studies clearly indicate that the STR-based age calculations tend to yield overestimated dates (Batini et al., 2015; Hallast et al., 2015; Karmin et al., 2015).
^Balanovsky O (May 2017). "Toward a consensus on SNP and STR mutation rates on the human Y-chromosome".Human Genetics.136 (5):575–590.doi:10.1007/s00439-017-1805-8.PMID28455625.S2CID3714493.While the reasons for the difference between genealogical and evolutionary Y-STR rates are thus partly understood, it remains unclear which rate to use. Many have applied the evolutionary rate, though quite a few have used the genealogical, or both, rates. Genetic genealogists generally apply the genealogical rate and criticize population-genetic studies for reporting (in their view) three-times overestimated ages ... The age of each haplogroup was also calculated using the STR genealogical rate and the STR evolutionary rate. Confidence intervals for the two STR-based ages (not shown on the plot) do not overlap. For example, the genealogical age of I2a-L621 (2200 ± 500 years) reaches the envelope age (from 2600 to 3100 ages), while the evolutionary age lies far beyond (9900 ± 2700 years). The observed pattern (Fig. 2a) clearly differs for haplogroups of different age classes. For ages less than 7000 years, the genealogical STR rate provides results consistent with or slightly underestimating the "true" ages, while the evolutionary rate results in three-fold overestimates. For ages between roughly 7000 and 15,000 years neither STR rate provides correct results. For haplogroups older than 15,000 years, the evolutionary rate estimates correctly or overestimates the "true" age.
^abcNeparáczki E, Maróti Z, Kalmár T, Maár K, Nagy I, Latinovics D, et al. (November 2019)."Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin".Scientific Reports.9 (1) 16569.Nature Research.Bibcode:2019NatSR...916569N.doi:10.1038/s41598-019-53105-5.PMC6851379.PMID31719606.Hg I2a1a2b-L621 was present in 5 Conqueror samples, and a 6th sample form Magyarhomorog (MH/9) most likely also belongs here, as MH/9 is a likely kin of MH/16 (see below). This Hg of European origin is most prominent in the Balkans and Eastern Europe, especially among Slavic speaking groups. It might have been a major lineage of the Cucuteni-Trypillian culture and it was present in the Baden culture of the Calcholitic Carpathian Basin24 ... The identical I2a1a2b Hg-s of Magyarhomorog individuals appears to be frequent among high-ranking Conquerors, as the most distinguished graves in the Karos2 and 3 cemeteries also belong to this lineage.
^Pamjav H, Fehér T, Németh E, Koppány Csáji L (2019).Genetika és őstörténet (in Hungarian). Napkút Kiadó. p. 58.ISBN978-963-263-855-3.Az I2-CTS10228 (köznevén "dinári-kárpáti") alcsoport legkorábbi közös őse 2200 évvel ezelőttre tehető, így esetében nem arról van szó, hogy a mezolit népesség Kelet-Európában ilyen mértékben fennmaradt volna, hanem arról, hogy egy, a mezolit csoportoktól származó szűk család az európai vaskorban sikeresen integrálódott egy olyan társadalomba, amely hamarosan erőteljes demográfiai expanzióba kezdett. Ez is mutatja, hogy nem feltétlenül népek, mintsem családok sikerével, nemzetségek elterjedésével is számolnunk kell, és ezt a jelenlegi etnikai identitással összefüggésbe hozni lehetetlen. A csoport elterjedése alapján valószínűsíthető, hogy a szláv népek migrációjában vett részt, így válva az R1a-t követően a második legdominánsabb csoporttá a mai Kelet-Európában. Nyugat-Európából viszont teljes mértékben hiányzik, kivéve a kora középkorban szláv nyelvet beszélő keletnémet területeket.
^abcdMcEvoy BP, Bradly DG (2010). "Irish Genetics and Celts". In Cunliffe BW, Koch JT (eds.).Celtic from the West: Alternative Perspectives from Archaeology, Genetics, Language, and Literature. Oxbow Books. pp. 107–120.ISBN978-1-84217-410-4.
^Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome".Human Mutation.35 (2):187–91.doi:10.1002/humu.22468.PMID24166809.S2CID23291764.
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznikop. cit.;YFull YTree v5.08, 2017, "K-M2335", and;PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
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