Haplogroup R-M17

Haplogroup R-M17
Possible place of origin Eurasia
Ancestor R-M448
Defining mutations M17, M198, M512, M514, M515, L168, L449, L457, L566

Haplogroup R-M17, sometimes referred to as R-M198, is a Y DNA haplogroup defining one of the most common human male lines found in modern Eurasia. It is defined by the SNP mutation M17, and is particularly common in a large region extending from South Asia and Southern Siberia to Central Europe and Scandinavia (Underhill 2009).

R-M17 is the most common subclade within the family of Y DNA lineages referred to as R1a or R-M420, which share in common the M420 SNP mutation, and before the discovery of M420, R-M17 was itself referred to as R1a.

Origin

The modern distribution of R-M17 has two widely separated areas of high frequency, one in South Asia, around India, and the other in Eastern Europe, around Poland and Ukraine. The demographic reasons for this are the subject of on-going discussion and attention among population geneticists and genetic genealogists.

Geographic origin

Until 2012, there was extensive scholarly debate as to the origins of haplgroup R-M17. Some researchers found that Indian, or more generally, South Asian populations, had the highest STR diversity.[1] Other studies variously proposed Eastern European, Central Asian and even Western Asian origins for R-M17.[2]

Coalescent time estimates for R-M17(xM458) STR from (Underhill 2009)
Location TD
W. India 15,800
Pakistan 15,000
Nepal 14,200
India 14,000
Oman 12,500
N. India 12,400
S. India 12,400
Caucasus 12,200
E. India 11,800
Poland 11,300
Slovakia 11,200
Crete 11,200
Germany 9,900
Denmark 9,700
UAE 9,700

Ancient DNA and archaeological correlates

Archaeologists recognize a complex of inter-related and relatively mobile cultures living on the Eurasian steppe, part of which protrudes into Europe as far west as Ukraine. These cultures from the late Neolithic and into the Iron Age, with specific traits such as Kurgan burials and horse domestication, have been associated with the dispersal of Indo-European languages across Eurasia. Nearly all samples from Bronze and Iron Age graves in the Krasnoyarsk area in south Siberia belonged to R-M17 and appeared to represent an eastward migration from Europe.[3] In central Europe, Corded Ware period human remains at Eulau from which Y-DNA was extracted appear to be R-M17(xM458) (which they found most similar to the modern German R-M17* haplotype.[4]

Frequency distribution of R-M17 adapted from (Underhill 2009).

Distribution

Asia

Central Asia

R-M17 is found among the Khotons of Uvs Province in Western Mongolia (82.5%).[5] Frequencies are also patchy in various other Central Asian populations. High frequencies of R-M17 between 50 and 70 percent are found among the Ishkashimis, Panjakent Tajiks, Central Kyrgyzstan Kyrgyz, and in several peoples of Russia's Altai Republic.(Tambets 2004, Wells 2001, and Kharkov 2007) Lower frequencies of between 16 and 25 percent are found among the Dushanbe Tajiks, Samarkand Tajiks, Yaghnobis and Shughnis.

This variation is possibly a consequence of population bottlenecks in isolated areas or the movements of Scythians (or, at that early stage, it is more correct to call them "Proto-Indo-Europeans") in ancient times and later the Turco-Mongols.

In Afghanistan, R-M17 is found at 51.02% among the Pashtuns who are the largest ethnic group in Afghanistan and 30.36% among the Tajiks. It is less frequent among the Hazaras (6.67%) and the Turkic-speaking Uzbeks (17.65%) (Haber 2012).

South Asia

In South Asia, R-M17 has often been observed with high frequency in a number of demographic groups. (Sahoo 2006 and Sengupta 2005)

In India, high frequencies of this haplogroup is observed in West Bengal Brahmins (72%)(Sengupta 2005) to the east, Konkanastha Brahmins (48%) (Sengupta 2005) to the west, Khatris (67%)(Underhill 2009) in the north and Iyenger Brahmins (31%)(Sengupta 2005) in the south. It has also been found in several South Indian Dravidian-speaking Adivasis including the Chenchu (26%) and the Valmikis of Andhra Pradesh and the Kallar of Tamil Nadu suggesting that M17 is widespread in Tribal Southern Indians (Kivisild 2003).

Besides these, studies show high percentages in regionally diverse groups such as Manipuris (50%)(Underhill 2009) to the extreme North East and in Punjab (47%)(Kivisild 2003) to the extreme North West.

In Pakistan it is found at 71% among the Mohanna tribe in Sindh province to the south and 46% among the Baltis of Gilgit-Baltistan to the north (Underhill 2009). Among the Sinhalese of Sri Lanka, 13% were found to be R-M17 positive (Kivisild 2003).

Hindus of Terai region of Nepal show it at 69% (Fornarino 2009).

East Asia

The frequency of R-M17 is comparatively low among some Turkic-speaking groups including Turks, Azeris, Kazakhs, and Yakuts, yet levels are higher (19 to 28%) in certain Turkic or Mongolic-speaking groups of Northwestern China, such as the Bonan, Dongxiang, Salar, and Uyghurs.(Wells 2001, Wang 2003, and Zhou 2007)

In Eastern Siberia, R-M17 is found among certain indigenous ethnic groups including Kamchatkans and Chukotkans, and peaking in Itel'man at 22% (Lell 2002).

West Asia

R-M17 has been found in various forms, in most parts of Western Asia, in widely varying concentrations, from almost no presence in areas such as Jordan, to much higher levels in parts of Kuwait, Turkey and Iran. The Shimar (Shammar) Bedouin tribe in Kuwait show the highest frequency in the Middle East at 43%.(Mohammad 2009,Nasidze 2004, and Nasidze 2005)

Wells 2001, noted that in the western part of the country, Iranians show low R-M17 levels, while males of eastern parts of Iran carried up to 35% R-M17. Nasidze 2004 found R-M17 in approximately 20% of Iranian males from the cities of Tehran and Isfahan. Regueiro 2006 in a study of Iran, noted much higher frequencies in the south than the north.

A newer Study has found 20.3% R-M17* among Kurdish samples which were taken in the Kurdistan Province in western Iran, 9.7% among Mazandaranis in North Iran in the province of Mazandaran, 9.4% among Gilaks in province of Gilan, 12.8% among Persian and 17.6% among Zoroastrians in Yazd, 18.2% among Persians in Isfahan, 20.3% among Persians in Khorasan, 16.7% Afro-Iranians, 18.4% Qeshmi "Gheshmi", 21.4% among Persian Speaking Bandari people in Hormozgan and 25% among the Baloch people in Sistan and Baluchestan Province (Grugni 2012).

Further to the north of these Middle Eastern regions on the other hand, R-M17 levels start to increase in the Caucasus, once again in an uneven way. Several populations studied have shown no sign of R-M17, while highest levels so far discovered in the region appears to belong to speakers of the Karachay-Balkar language among whom about one quarter of men tested so far are in haplogroup R-M17 (Underhill 2009).

Europe

R1a1 among other European haplogroups

In Europe, the R-M17 sub-clade, is found at highest levels among peoples of Eastern European descent (Sorbs, Poles, Russians and Ukrainians; 50 to 65%) (Balanovsky 2008, Behar 2003, and Semino 2000). In the Baltic countries R-M17 frequencies decrease from Lithuania (45%) to Estonia (around 30%) (Kasperaviciūte 2005). Levels in Hungarians have been noted between 20 and 60% (Battaglia 2008, Rosser 2000, Semino 2000, and Tambets 2004).

There is a significant presence in peoples of Scandinavian descent, with highest levels in Norway and Iceland, where between 20 and 30% of men are in R-M17 (Bowden 2008 and (Dupuy 2005)). Vikings and Normans may have also carried the R-M17 lineage westward; accounting for at least part of the small presence in the British Isles (Passarino 2002 and Capelli 2003). In East Germany, where Haplogroup R-M17 reaches a peak frequency in Rostock at a percentage of 31.3%, it averages between 20%-30% (Kayser 2005).

Haplogroup R-M17 was found at elevated levels among a sample of the Israeli population who self-designated themselves as Ashkenazi Jews. Ashkenazim were found to have a significantly higher frequency of the R-M17 haplogroup. Behar reported R-M17 to be the dominant haplogroup in Ashkenazi Levites (52%), although rare in Ashkenazi Cohanim (1.3%) and Israelites (4%) (Behar 2003).

In Southern Europe R-M17 is not common, but significant levels have been found in pockets, such as in the Pas Valley in Northern Spain, areas of Venice, and Calabria in Italy (Scozzari 2001). The Balkans shows lower frequencies, and significant variation between areas, for example >30% in Slovenia, Croatia and Greek Macedonia, but <10% in Albania, Kosovo and parts of Greece (Pericić 2005, Rosser 2000, and Semino 2000).

The remains of a father and his two sons, from an archaeological site discovered in 2005 near Eulau (in Saxony-Anhalt, Germany) and dated to about 2600 BCE, tested positive for the Y-SNP marker SRY10831.2. The Ysearch number for the Eulau remains is 2C46S. The ancestral clade was thus present in Europe at least 4600 years ago, in association with one site of the widespread Corded Ware culture (Haak 2008).

Subclade distribution

R-M458 This branch is found almost entirely in Europe, and with low frequency in Turkey and parts of the Caucasus. Its highest frequencies were found in Central and Southern Poland, particularly near the river valleys flowing northwards to the Baltic sea (Underhill 2009).

R-M334 is defined by the M334 marker. However this mutation was found only in one Estonian man and may define a very recently founded and small clade (Underhill 2009).

Relative frequency of R-M434 to R-M17
Region People N R-M17 R-M434
Number Freq. (%) Number Freq. (%)
 Pakistan Baloch60915%58%
 Pakistan Makrani601525% 47%
 Middle East Oman121119% 32.5%
 Pakistan Sindhi1346549% 21%
Table only shows positive sets from N = 3667 derived from 60 Eurasian populations sample, (Underhill 2009)


R-M87 (defined by the M64.2, M87, and M204 SNP mutations) is apparently rare: it was found in 1 of 117 males typed in southern Iran (Regueiro 2006).

R-M434 was detected in 14 people (out of 3667 people tested) all in a restricted geographical range from Pakistan to Oman. This likely reflects a recent mutation event in Pakistan (Underhill 2009).

Associated SNPs

SNP Mutation Y-position (NCBI36) Y-position (GRCh37) RefSNP ID
M17INS G2019255621733168rs3908
M198C->T1354014615030752rs2020857
M512C->T1482454716315153rs17222146
M514C->T1788468819375294rs17315926
M515T->A1256462314054623rs17221601
L168A->G1471157116202177-
L449C->T2137614422966756-
L457G->A1494626616436872rs113195541
L566C->T---

Subgroups

Thomas Krahn's draft tree

This is Thomas Krahn at the Genomic Research Center's Draft tree Proposed Tree for haplogroup R-M17.

R-M17 subclades and STR clusters

Frequency distribution of R-M458

R-M458

R-M458 is a mainly Slavic SNP, characterized by its own mutation, and was first called cluster N. Underhill et al. (2009) found it to be present in modern European populations roughly between the Rhine catchment and the Ural Mountains and traced it to "a founder effect that [...] falls into the early Holocene period, 7.9±2.6 KYA."[6] M458 was found in one skeleton from a 14th-century grave field in Usedom, Mecklenburg-Vorpommern, Germany.[7] The paper by Underhill et al. (2009) also reports a surprisingly high frequency of M458 in some Northern Caucasian populations (for example 27.5% among Karachays and 23.5% among Balkars, 7.8% among Karanogays and 3.4% among Abazas).

R-L260

The R-L260 lineage, commonly referred to as West Slavic or Polish, is a subclade of the larger parent group R-M458, and was first identified as an STR cluster by Pawlowski 2002 and then by Gwozdz 2009. Thus, R-L260 was what Gwozdz 2009 called cluster "P." In 2010 it was verified to be a haplogroup identified by its own mutation (SNP).[8] It apparently accounts for about 8% of Polish men, making it the most common subclade in Poland. Outside of Poland it is less common (Pawlowski 2002). In addition to Poland, it is mainly found in the Czech Republic and Slovakia, and is considered "clearly West Slavic."[9] The founding ancestor of R-L260 is estimated to have lived between 2000 and 3000 years ago, i.e. during the Iron Age, with significant population expansion less than 1,500 years ago (Gwozdz 2009).

R-M334

The R-M334 was identified in an Estonian population sample (Underhill 2009).

R-L365

R-L365 was early called Cluster G.

Gwozdz's Cluster K

This is an STR based group that is R-M17(xM458). This cluster is common in Poland but not exclusive to Poland (Gwozdz 2009).

Klyosov's Cluster DYS388=10

Klyosov 2009 notes a potential clade identified by a mutation on the relatively stable STR marker DYS388 (to an unusual repeat value of 10, instead of the more common 12), noting that this "is observed in northern and western Europe, mainly in England, Ireland, Norway, and to a much lesser degree in Sweden, Denmark, Netherlands and Germany. In areas further east and south that mutation is practically absent."

See also

Y-DNA R-M207 Subclades

  • R-L21
  • R-L295
  • R-M124
  • R-M167
  • R-M17
  • R-M173
  • R-M207
  • R-M342
  • R-M420
  • R-M479
  • R-U106

Y-DNA backbone tree

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 (K)
I J LT(K1) K (K2)
L T MPS (K2b) X (K2a)
MS P NO
M S QR N O
Q R
  1. ↑ 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. PMID 24166809.

References

Books

Conference posters

Dissertations

Websites

References

  1. ↑ (Kivisild 2003,Mirabal 2009,Underhill 2009,(Sengupta 2005,Sahoo 2006,Sharma 2009,Thangaraj 2010),Sharma 2012)
  2. ↑ (Underhill 2009Regueiro 2006Kivisild 2003Semino 2000)(Zhao 2009)(Semino 2000)
  3. ↑ (Keyser 2009)
  4. ↑ Underhill 2009
  5. ↑ T. Katoh et al. / Gene xx (2004) xxx-xxx Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis
  6. ↑ Underhill, PA et al. (2010). "Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a". European Journal of Human Genetics 18 (4): 479–484. doi:10.1038/ejhg.2009.194. PMC 2987245. PMID 19888303.
  7. ↑ J. Freder, Die mittelalterlichen Skelette von Usedom [The mediaeval skeletons of Usedom], Berlin 2010, p. 86 (Dissertation Free University Berlin 2010).
  8. ↑ Peter Gwozdw. M458, L260, CTS11962
  9. ↑ Haplogroup R1a (Y-DNA)