20
1 I2a1b (I-M423) Y-DNA Genetic Ancestral Journey Gábor Balogh, 2014 CT (M168) A (M91) BT (M42) CF (P143) F (M89) IJK (L15) IJ (M429) I (M170) I2 (M438) I2a (L460)

I2a1b (I-M423) Y-DNA Genetic Ancestral Journey

  • Upload
    kefo

  • View
    0

  • Download
    0

Embed Size (px)

Citation preview

1

I2a1b (I-M423) Y-DNA Genetic Ancestral Journey

Gábor Balogh, 2014

CT (M168)

A (M91)

BT (M42)

CF (P143)

F (M89) IJK (L15)

IJ (M429)

I (M170) I2 (M438)

I2a (L460)

2

The I2a1b (I-M423) Family Tree

3

The FTDNA Haplotree:

4

The Y DNA Timeline Comparison:

5

History of Haplogroup I – background

I is the oldest haplogroup in Europe and in all probability the only one that originated there (apart from deep subclades of other haplogroups). It is thought to have arrived from the Middle East as haplogroup IJ around 35,000 years ago, and developed into haplogroup I approximately 25,000 years ago. This means that Cro-Magnons most probably belonged to IJ. Nowadays haplogroup I accounts for 10 to 45% of the population in most of Europe.

- Haplogroup I1 - Haplogroup I2 might have originated in southeastern Europe some 17,000 years ago and

developed into four main subgroups: I2a1, I2a2, I2a2a and I2b2. - I2a2a (formerly I2b1) is associated with the pre Celto-Germanic people of North-Western

Europe, such as the megaliths builders (5000-1200 BC). The wide variety of STR markers within I2a2a could make it as much as 13,000 years old.

Haplogroup I2 (Y-DNA) is Continental Europe's Mesolithic paternal lineage. In human genetics, Haplogroup I-M438is 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.

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.

6

Distribution of haplogroup I2a in Europe:

7

The I2a1b (I-M423) Ancestral Journey

8

I.

Y-chromosomal Adam (Y-MRCA)

Time of Emergence: 142,000 BP, 5700 generations ago (Middle Pleistocene)

Place of Origin: Africa

Y-chromosomal Adam (Y-MRCA) is the most recent common ancestor (MRCA) from whom all living people are descended patrilineally (tracing back only along the paternal lines of their family tree). Recent studies report that Y-chromosomal Adam lived as early as around 142,000 years ago. All living humans are also descended matrilineally from Mitochondrial Eve who is thought to have lived earlier, about 190,000–200,000 years ago. Y-chromosomal Adam and Mitochondrial Eve need not have lived at the same time. Y-chromosomal Adam had at least two sons and two of his sons have unbroken lineages that have survived to the present day. Initial sequencing of the human Y chromosome suggested that two most basal Y-chromosome lineages were Haplogroup A and Haplogroup BT. Haplogroup A is found at low frequencies in parts of Africa, but is common among certain hunter-gatherer groups. Haplogroup BT lineages represent the majority of African Y-chromosome lineages and virtually all non-African lineages. Y-chromosomal Adam was represented as the root of these two lineages. Haplogroup A and Haplogroup BT represented the lineages of the two sons of Y-chromosomal Adam. Y-chromosomal Adam is named after the Biblical Adam. This may lead to a misconception that he was the only living male of his times, even though he co-existed with plenty of men around, including his own father who was not the "most recent". However, all his other male contemporaries failed to produce a direct unbroken male line to the present day.

Reconstruction of Y-chromosomal Adam (Maliernes, 2002)

9

II.

Haplogroup A (M91)

Time of Emergence: 140,000 BP, 5600 generations ago (Middle Pleistocene)

Place of Origin: Central-Northwest Africa

In human genetics, Haplogroup A is the lineage of all human males. No mutations define Haplogroup A, but since this nomenclature only deals with Homo sapiens sapiens, the "Y-Chromosomal Adam" can be considered its founder. Haplogroup A(xBT) is largely restricted to parts of Africa, though a handful of cases have been reported in Europe and Western Asia. The clade achieves its highest modern frequencies in the Bushmen hunter-gatherer populations of Southern Africa, followed closely by many Nilotic groups in Eastern Africa. However, haplogroup A's oldest sub-clades are exclusively found in Central-Northwest Africa, where it, and consequently Y-chromosomal Adam, is believed to have originated about 140,000 years ago. The clade has also been observed at notable frequencies in certain populations in Ethiopia, as well as some Pygmy groups in Central Africa. Many proposals for haplogroup A's origin suggest it was associated with the ancestral population of Southern Africa's hunter-gatherers. This is because Haplogroup A lineages are frequent among the San people. In addition, the most basal mitochondrial DNA lineages are also largely restricted to the San. However the A lineages of Southern Africa are sub-clades of A lineages found in other parts of Africa. This suggests that A lineages arrived in Southern Africa from elsewhere. The two most basal lineages of Haplogroup A, A1b and A1a, have been detected in West Africa, Northwest Africa and Central Africa. Cruciani et al. suggest that these lineages may have emerged somewhere in between Central and Northwest Africa, though such an interpretation is still preliminary due to the incomplete geographic coverage of African y-chromosomes.

10

III.

Haplogroup BT (M42, M94, M139, M299)

Possible time of origin: 75,000 BP, 3000 generations ago Possible place of origin: Western North Africa - Central West Africa Haplogroup BT is descended from Haplogroup A about 75,000 years bp, possibly originating in western North Africa - central West Africa. It contains the remaining living human Y-DNA haplogroups from macro-haplogroup A. The notation BT refers to the derived set of haplogroups between B and T which forms its own cladistic set.

11

IV.

Haplogroup CT (M168):

Time of Emergence: 70,000 BP, 2800 generations ago - beginning of the Last Glacial Period

Place of Origin: The African Rift Valley

Eurasian Adam probably lived in the region of the Rift Valley in northeast Africa, perhaps in

present-day Ethiopia, Kenya or Tanzania. Over time, a few thousand of his descendants migrated

out of Africa, across the Bab el-Mandeb – the outlet of the Red Sea to the Indian Ocean – at a

time when the water was low enough to allow safe passage in small boats or even over dry land.

His descendants became the only lineage to survive outside of humanity’s home continent of

Africa. (Other lineages had made their way out of Africa earlier, but died out as a result of dramatic

climate changes. One such change occurred when Mount Toba in Sumatra erupted.) Population

growth during the Upper Paleolithic (Late Stone Age) may have spurred these nomadic people to

follow the plains animals which were their food supply. Improved tools and rudimentary art

appeared during this epoch, suggesting there were significant mental and behavioral changes in

mankind. It has been suggested that these changes were spurred by a genetic mutation that gave

Eurasian Adam’s descendants a cognitive advantage over other contemporary, now extinct,

lineages.

The defining mutations separating CT (all haplogroups excepting A and B) are M168 and M294. These mutations predate the "Out of Africa" migration.

12

V.

Haplogroup CF (P143): Moving Through the Middle East Time of Emergence: 57,000 BP, 2300 generations ago

Climate: Temporary retreat of Ice Age

Haplogroup CF (also known as CF(xDE)) is a Y-DNA Haplogroup defined by the SNP P143. Along with and parallel to Haplogroup DE, it is a descendant of Haplogroup CT. As its compound name implies, it is the ancestral haplogroup to both Haplogroup C and Haplogroup F. The haplogroup is hypothetical because no male in haplogroup CF* has yet been discovered. It defines a large inland migration of nomadic hunters who followed expanding grasslands in the Middle East. Humankind numbered only in the tens of thousands. At this time much of the Earth’s water was frozen in massive ice sheets, which had gradually increased in size. Vast grasslands, called steppes, stretched from present-day France to present-day Korea. Many of the grassland hunters of the P143 lineage traveled east along this steppe highway and eventually peopled much of Asia. Others set a different course. They went west, moving into Europe, trading their familiar grasslands for forests and high country. Though their numbers were small, genetic traces of their journey are still found today.

Haplogroup Y-DNA CF (P143)

13

VI.

Haplogroup F (M89)

Time of Emergence: 48,000 BP, 1900 generations ago Place: Southwest Asia Climate: Middle East: Semiarid grass plains In human genetics, haplogroup F is a very common Y-chromosome haplogroup spanning all the continents. This haplogroup and its subclades contain more than 90% of the world's existing non-African male population. Sometimes it is referred to as haplogroup FT to distinguish the part of it which is referred to in standard nomenclature as haplogroup (orparagroup) F* (the branches of haplogroup F which have not yet been designated as defining a major haplogroup of their own). This supercluster contains mainly lineages that are not typically found in sub-Saharan Africa, suggesting that its ancestral CF chromosome may have been carried out of Africa very early in the modern human diaspora, and F may have appeared 48,000 (38,700-55,700) years ago, probably in Eurasia. The presence of several subclusters of F and K that are largely restricted to the Indian subcontinent is consistent with the scenario that a coastal (southern route) of early human migration out of Africa carried ancestral Eurasian lineages first to the coast of the Indian subcontinent, or that some of them originated there.

14

VII.

Haplogroup IJK (L15, L16)

Time of Emergence: 45,000 BP, 1800 generations ago Place: Southwest Asia

Haplogroup IJK is a descendant branch of the macrohaplogroup F with haplogroup IJ and haplogroup K as its attested descendants. According to Family Tree DNA, the two SNPs defining this haplogroup unite I, J, and K within F as a "brother clade" to G and H. FTDNA further states that haplogroup IJK's relationship with haplogroup F1 through F4 is unknown.

15

VIII.

Haplogroup IJ (M429) (Cro-Magnon)

Time of Emergence: 38,500 BP, 1500 generations ago

Place: Middle East

In human genetics, Haplogroup IJ is a human Y-chromosome DNA haplogroup. Haplogroup IJ is a descendant branch of Haplogroup IJK which in turn derives from the greater Haplogroup F. Descendants are Haplogroup I and Haplogroup J. Haplogroup IJ derived populations account for a significant fraction of the present-day populations of Europe, Western Eurasia, North Africa, the Americas, and Australia.The existence of the Haplogroup IJ node has been inferred from the fact that certain mutations are shared in common among all Y-chromosomes belonging to the descendant haplogroups I and J. Until very recently, the lack of examples of Haplogroup IJ* belonging to neither Haplogroup I nor Haplogroup J complicated any attempt to deduce the geographical location where Haplogroup IJ first appeared. Both Haplogroup I and Haplogroup J are found among modern populations of the Caucasus, Anatolia, and Southwest Asia tends to support the hypothesis that Haplogroup IJ derived from Haplogroup IJK in the Middle East and subsequently spread throughout Western Eurasia. The TMRCA (time to most recent common ancestor) for the IJ clade, expressed in ky (confidence interval), is 38.5 (30.5-46.2).

16

IX.

Haplogroup I (M170): Occupying the Balkans Time of Emergence: 24,000 BP, 960 generations ago

Place of Origin: Southeastern Europe

Gravettian culture of the Upper Paleolithic. The I2a2a ancestors were part of the M89 Middle Eastern Clan that continued to migrate northwest into the Balkans and eventually spread into Central Europe. These people may have been responsible for the expansion of the prosperous Gravettian culture, which spread through northern Europe from about 21,000 to 28,000 years ago. But this improvement in the climate would not endure. Early occupation of Europe was arrested then reversed, as another prolonged period of severe cold gripped the continent—the last Ice Age. It continued for thousands of years; it’s most severe stage is called the Last Glacial Maximum, or LGM, which encompassed the furthest extent of the ice sheets upon the land. Mankind could do little more than survive, and was forced to retreat south to a few scattered enclaves in Asia and Europe. Iberia was one, the Ukraine another. The M89 lineage sought refuge in the Balkans, likely concentrated in the Southern Carpathian Mountains, where it survived through the LGM. Scientists speculate that human enclaves favored the high ground because it provided commanding views of the territory below and maximized sunlight by avoiding the shadows of the valleys. At this time our species numbered in the hundreds of thousands, but the earth could not support an increase in Homo sapiens sapiens. The emphasis was merely on survival. During this time, it isn’t possible to venture too far north within Europe as the ice sheets cover much of northern Europe and tundra exists for several miles beneath them. The humans in this part of the world are relatively recent visitors and are not so adapted to the colder climes as are the people of Siberia. The man who gave rise to marker M170, was born about 20,000 years ago and was heir to this heritage. He was probably born in one of the isolated refuge areas people were forced to occupy during the last blast of the Ice Age in the Balkans. As the ice sheets covering much of Europe began to retreat around 15,000 years ago, his descendants likely played a central role in repopulating northern Europe.

17

X. Haplogroup I2 (S31, P215, M438) Time of Emergence: 22,000 BP, 880 generations ago

Place of Origin: Serbia

Climate: Height of the Ice Age

Man survived the last Ice Age, proving just how tough and adaptable the human race is. As the climate moderated and the ice sheets receded, he started to abandon his mountain refuges and move to lower ground, following those large game animals which were his food source. He then set out to reclaim Europe. This line was one of the haplogroups in the vanguard of this recolonization process, and in fact he represented Northern Europe’s main internal migrating male Mesolithic-Neolithic component. He proposes a specific area to which this gene group might have migrated, and he identifies it - quite logically - as a locale in southeastern Europe known to have later been populated by ancient civilizations. The restricted immediate post-LGM Balkans location would place the source and highest frequency of this group at the centre of the oldest European Neolithic cultural zone, including the Starčevo, and allied Balkan Neolithic cultures, Körös, Criş and Karanovo. Simply stated, this group came down from the mountains and settled along the Danube River basin. Starčevo is a site located on the north bank of the Danube, opposite Belgrade in Serbia. The location is also indicated by the concentration of the marker among present-day DNA donors. The name of the town means “the place of the old man” in Serbian. This marker is called S31 by EthnoAncestry, P215 by Family Tree DNA and M438 by Sorenson Molecular Genealogy Foundation. Over the generations, more mutation markers sprang up in the DNA of this line. Geneticists have decided these markers define subclades within the gene group, and over the span of a few thousand years this group splintered into a handful of these subclades. Over time they became geographically dispersed, but the frequency of Haplogroup I in any location was never very great. One subclade made its way southwest along the coast of the Mediterranean, one went north to Scandinavia, one moved northeast into Russia. And one line proceeded northwest, following natural features such as river basins, eventually settling in modern-day Germany. Later, this line moved north and west along the Danube (taking the same northern route used by early man) and eventually made his way into Germany.

18

XI. Haplogroup I2a (L460)

Time of Emergence: 21,000 BP, 840 generations ago

Place: Along the Danube

This marker was discovered by Family Tree DNA’s Genomics Research Center in May of 2011.

Haplogroup I2a is the most common paternal lineage in former Yugoslavia, Romania, Bulgaria and

Sardinia, and a major lineage in most Slavic countries. Its maximum frequencies are observed in

Bosnia (55%, including 71% in Bosnian Croats), Sardinia (39.5%), Croatia (38%), Serbia (33%),

Montenegro (31%), Romania (28%), Moldova (24%), Macedonia (24%), Slovenia (22%), Bulgaria

(22%), Belarus (18.5%), Hungary (18%), Slovakia (17.5%), Ukraine (13.5%), and Albania (13.5%).

It is found at a frequency of 5 to 10% in Germanic countries.

19

XII. Haplogroup I2a1 P37.2 Time of Emergence: 8,000 BP, 320 generations ago Place: Southeastern Europe

Haplogroup I2a1 is by far the largest branch of I2 and the one most strongly linked to Neolithic

cultures in south-east, south-west and north-west Europe.

20

XIII.

Haplogroup I2a1b M423 Time of Emergence: 5,100 BP, 200 generations ago Place: Southern Ukraine

This branch is found overwhelmingly in Slavic countries. Its maximum frequencies are observed among the Dinaric Slavs (Slovenes, Croats, Bosniaks, Serbs, Montenegrins and Macedonians) as well as in Bulgaria, Romania, Moldavia, western Ukraine and Belarus. It is also common to a lower extent in Albania, Greece, Hungary, Slovakia, Poland, and south-western Russia. I2-L621 (L147.2+) is also known as as I2a-Din (for Dinaric).

The high concentration of I2a1b-L621 in north-east Romania, Moldova and central Ukraine reminds of the maximum spread of the Cucuteni-Trypillian culture (4800-3000 BCE) before it was swallowed by the Indo-European Corded Ware culture. This could mean that the Cucuteni-Tripolye culture was a native European group of hunter-gatherers who adopted farming after coming in contact (with perhaps some intermarriages) with the Middle Eastern farmers who settled in the Balkans (haplogroups E1b1b, G2a, J2b and T). After being Indo-Europeanized, I2a-L621 would have become the dominant paternal lineage among southern Slavs, while R1a remained dominant among northern Slavs.

The presence of I2a-L621 in Romania and Bulgaria could be attributed to the migration of the ancient Dacians and Thracians, who emerged as a mixture of of indigenous peoples and Indo-Europeans (in this case, essentially R1a-Z280) sometime between 3300 and 1500 BCE. The Illyrians, who conquered the territory of former Yugoslavia circa 1200-1000 BCE, might have been an offshoot from the Dacians or the Thracians, or a closely related tribe from the Carpathian basin.

The second great expansion of I2a-Din took place with the Slavic migration in the Late Antiquity and Early Middle Ages. I2a-Din had started to mix with Proto-Indo-Euroepan R1a around Moldova, Ukraine, Belarus and Poland during the Corded Ware period (2900-2400 BCE), then disseminated more uniformly across Proto-Slavic tribes during the Bronze and Iron Ages. After Germanic tribes living in eastern Germany and Poland, like the Goths, the Vandals and the Burgundians, invaded the Roman Empire, the Slavs from further east filled the vacuum. Following the collapse of the Western Roman Empire in 476, the Slavs moved in the Dinaric Alps and the Balkans. By the 9th century the Slavs occupied all modern Slavic-speaking territories, apart from the eastern Balkans under the control of the Turkic-speaking Bulgars.

Nowadays northern Slavic countries have between 9% (Poland, Czech republic) and 21% (Ukraine) of I2a-L621, while southern Slavs have between 20% (Bulgaria) and 50% (Bosnia). The higher percentage of I2a-Din in the south owes to the cumulative effect of Bronze Age and Early Iron Age migrations (Dacians, Thracians, Illyrians) and the medieval Slavic migrations. The relatively high percentage of of I2a-L621 in non-Slavic people like the Hungarians (15% ), Albanians (12%) and Greeks (9%) dates from the Bronze Age and population movement inside the Roman Empire which redistributed I2a beyond the original Daco-Thracian and Illyrian territories. Based on these frequencies, and the distribution of R1a subclades, it can be assessed that the Daco-Thracians and Illyrians carried approximately two to three times more I2a-Din than R1a, while the Early Slavs must have had roughly twice more R1a than I2a-Din. The higher proportion of R1a in many northern Slavic countries today is due to earlier migrations of R1a during Bronze Age (such as L260 among West Slavs and Z92 and Z93 among Russians and Belarussians).