Haplogroup N-M231

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Haplogroup N
Haplogrupo N (ADN-Y).PNG
Possible time of origin36,800 [95% CI 34,300–39,300] years before present (YFull [1] )

44,700 or 38,300 ybp depending on mutation rate [2]

41,900 [95% CI 40,175-43,591] ybp [3]
Coalescence age21,700 [95% CI 19,500–23,900] ybp (YFull [1] )

25,313 [95% CI 21,722–28,956] ybp [3]
Possible place of originNorthern East Asia [4] [5]
Ancestor NO
Defining mutationsM231
Highest frequencies Nganassan 58% [3] –94.1%, [6] Yakuts 81.8% [7] –94.6%, [8] Khakass (Shirinsky District) 90.2%, [9] Siberian Tatars 33.5% (Zabolotnie 89.5%, Iskero-Tobol 23.5%, Tatar-Bukharans 16.5%, Yalutorov 16.3%, Ishtyak-Tokuz 14.5% [10] ), Ugrians 77.8% [3] (Khanty 64.3% [11] –89.3%, [12] Mansi 76% [12] ), Udmurts 77.8%, [3] Khakas 41% [3] –65%, [11] Komi 33.3% [11] –79.5%, [6] Nenets 75%–92.9% [3] (Tundra Nenets 97.9%, [6] Forest Nenets 98.8% [6] ), Vepsians 55%, [3] Finns 42.6% (West) [13] –70.9% (East) [13] or approx. 54% [3] –58.8%, [14] Tuvans 27.2–54.5%,[ citation needed ] Nanai 46.2% [3] [15] [16] (20% Hezhe in the PRC, [15] 44.6% Nanai in Russia, [3] 83.8% members of the Samar clan in the Gorin area of the Khabarovsk Territory [16] ), Karelians 37.1% [5] –53.8%, [13] Arkhangelsk Russians 42.6% (Arkhangelsk 44.3%, [3] Pinega 40.8% [3] ), Lithuanians 40.5% [3] –44.5%, [13] Latvians approx. 42% (41.6%, [13] 42.1%, [17] 43.0% [3] ), Mari 41.2%, [3] Saami 40%, Chuvash 33.7% [14] –36%, [3] Buryats 34.5% (20.2%, [18] 25.0%, [19] 30.9%, [20] 48.0% [21] >), Koryaks 33.3%, [6] Estonians 30.6% [3] -33.9%, [13] Volga Tatars 27.8%, [3] Teleuts 25.0%, [6] Northern Altaians 21.8% (18.0% [11] [22] –24.6% [23] ), Pskov Russians 22.7%, [3] Russians 20% [24] Bashkirs 17.3%, [3] Sibe 17.1% [15] –18.0%, [25] Mordvins 12.5% (10% [3] –13.3% [3] ), Mongols 11%, [26] [20] [15] [19] [27] [28] Kalmyks 10.4% (Torguud 3.4%, Derbet 5.1%, Buzava 5.3%, Khoshut 38.2%), [29] [28] Manchus 10% (5.8%, [20] 8.1%, [30] 9.1%, [25] 11.6%, [25] 12.5%, [25] 14.3% [15] ), Belarusians 9.7%, [3] Central-Southern Russians 9.1% (Tver 13.2%, [31] Kursk 12.5% [31] –13.3%, [3] Belgorod 11.9%, [3] Kostroma 11.8%, [3] Smolensk 7.0%, [3] Voronezh 6.3%, [3] Oryol 5.5% [3] ), Ukrainians 9.0%, [3] Southern Altaians 7.1% (4.2% [23] -9.7% [11] ), Mulam 7.1%, [32] Sweden 6.8% [14] (0% Västra Götaland, Halland, Malmö, and Jönköping [33] - 19.5% Västerbotten [34] ), Han Chinese 6.77% (0% to 21.4%), [25] Koreans 6.58% (4.41% to 12%) 12% Koreans, [35] 6.58% Koreans from KPGP(Korean Genome Project), [36] 6.9% Jeju [19] 6.4% Gochang [37] 6.3% Gangwon [19] 5.7% North Korean [38] 4.8% Gyeongsang, [19] 4.4% Jeolla, [19] 4.2% Chungcheong, [19] 4.0% Seoul, [39] 3.0% Daejeon, [39] 1.8% Seoul-Gyeonggi, [19] Ulchi 5.8%, [40] Tibetans 5.65%, [41] Kazakhs 5.33% [42] (Suan 0%, Qangly 0%, Oshaqty 0%, Jetyru 1.2%, Dulat 1.6%, Argyn 2.0%, Alimuly 2.5%, Ysty 3.5%, Baiuly 3.9%, Alban 4.3%, Qongyrat 7.4%, Qypshaq 10.3%, Jalair 10.9%, Qozha 16.7%, Syrgeli 65.6%), Northern Thai 5.2%, [43] Uyghurs 4.89% (2.8%, [44] 4.8%, [25] 4.99%, [45] 6.0%, [20] 8.6% [15] ), Kyrgyz 3.9% (2.8% Kyzylsu, [46] 3.3% Kyzylsu, [47] 4.5% Kyrgyzstan, [27] 10% Urumqi [46] ), Vietnamese 3.4%, Japanese 1.9% (0%, [2] 0.8%, [48] 0.9%, [49] 1.7%, [50] 2.5%, [19] 4.3%, [51] 4.8%, [20] 6.4% [15] )

Haplogroup N (M231) is a Y-chromosome DNA haplogroup defined by the presence of the single-nucleotide polymorphism (SNP) marker M231. [Phylogenetics 1]

Contents

It is most commonly found in males originating from northern Eurasia. It also has been observed at lower frequencies in populations native to other regions, including parts of the Balkans, Central Asia, East Asia, and Southeast Asia.

However, the basal paragroup N* has only been found in populations indigenous to China and Cambodia. [4] Subclades of N-M231 have been found at low levels in Southeast Asia, the Pacific Islands, Southwest Asia and the Balkans. These factors tend to suggest that it originated in East Asia or Southeast Asia.

Origins

Estimated prehistoric migration routes for Y-chromosome haplogroup N lineage. Prehistoric migration routes for Y-chromosome haplogroup N lineage.png
Estimated prehistoric migration routes for Y-chromosome haplogroup N lineage.

Haplogroup NO-M214 – its most recent common ancestor with its sibling, haplogroup O-M175 – is estimated to have existed about 36,800–44,700 years ago. [1] [53] [2]

It is generally considered that N-M231 arose in East Asia approximately 19,400 (±4,800) years ago and populated northern Eurasia after the Last Glacial Maximum. Males carrying the marker apparently moved northwards as the climate warmed in the Holocene, migrating in a counter-clockwise path, to eventually become concentrated in areas as far away as Fennoscandia and the Baltic. [5] The apparent dearth of haplogroup N-M231 amongst Native American peoples indicates that it spread after Beringia was submerged, [54] about 11,000 years ago.

Distribution

Projected distributions of haplogroup N sub-haplogroups. (A) N*-M231, (B) N1*-LLY22g, (C) N1a-M128, (D) N1b-P43, (E) N1c-M46. Contour maps of sub-haplogroups of Y-chromosome Haplogroup N.png
Projected distributions of haplogroup N sub-haplogroups. (A) N*-M231, (B) N1*-LLY22g, (C) N1a-M128, (D) N1b-P43, (E) N1c-M46.

Haplogroup N has a wide geographic distribution throughout northern Eurasia, and it also has been observed occasionally in other areas, including Central Asia and the Balkans.

It has been found with greatest frequency among indigenous peoples of Russia, including Uralic peoples (Mari, Udmurt, Komi, Khanty, Mansi, Nenets, Nganasans), Turkic peoples (Yakuts, Dolgans, Khakasses, Tuvans, Tatars, Chuvashes, etc.), Buryats, Tungusic peoples (Evenks, Evens, Negidals, Nanais, etc.), Yukaghirs, Luoravetlans (Chukchis, Koryaks), and Siberian Eskimos, but certain subclades are very common in Finland, Estonia, Latvia, and Lithuania, and other subclades are found at low frequency in China (Yi, Naxi, Lhoba, Han Chinese, etc.). [55] Especially in ethnic Finnic peoples and Baltic-speaking peoples of northern Europe, the Ob-Ugric-speaking and Northern Samoyed peoples of western Siberia, and Turkic-speaking peoples of Russia (especially Yakuts,[ citation needed ],but also Altaians, Shors, Khakas, Chuvashes, Tatars, and Bashkirs). Nearly all members of haplogroup N among these populations of northern Eurasia belong to subclades of either haplogroup N-CTS6128/M2048 or haplogroup N-P43.

Y-chromosomes belonging to N1b-F2930/M1881/V3743, or N1*-CTS11499/L735/M2291(xN1a-F1206/M2013/S11466), have been found in China (where they account for approximately 3.62% of all Y-DNA [56] ) and sporadically throughout other parts of Eurasia. The N-CTS6128/M2048 and N-P43 subclades of N1a-F1206/M2013/S11466 are found in high numbers in Northern Eurasia; however, members of N1a-F1206(xCTS6128, P43) are currently found mainly in northern China and Korea.

N2-Y6503, the other primary subclade of haplogroup N, is extremely rare and is mainly represented among extant humans by a recently formed subclade that is virtually restricted to the countries making up the former Yugoslavia (Bosnia-Herzegovina, Croatia, Serbia, and Montenegro), Hungary and Austria. Other members of N2-Y6503 include a Hungarian with recent ancestry from Suceava in Bukovina, a Slovakian, a few British individuals, and an Altaian. [1]

N* (M231)

Y-chromosomes that display the M231 mutation that defines Haplogroup N-M231, but do not display the CTS11499, L735, M2291 mutations that define Haplogroup N1 are said to belong to paragroup N-M231*. [4]

N-M231* has been found at low levels in China. [4] Out of a sample of 165 Han males from China, two individuals (1.2%) were found to belong to N*. [57] One originated from Guangzhou and one from Xi'an.[ citation needed ]

Among the ancient samples from the Baikal Early Neolithic Kitoi culture, one of the Shamanka II samples (DA250), dated to c. 6500 BP, was analyzed as NO1-M214 in the original study. [58] However, this same specimen (DA250 or Shamanka 250) has subsequently been found to belong to N-FT210118, the same clade as the other haplogroup N specimens from the same site (besides DA247, who belongs to N-Y147969). N-FT210118 is derived from N-L666/N-F2199 but basal to N-CTS6380, this latter being the most recent common ancestor of present-day N-P43 (found mainly among Maris, Udmurts, Komis, Chuvashes, Tatars, Nenets, Nganasans, Khanty, Mansi, Khakas, Tuvans, etc.) and N-F1101 (found mainly among East Asians). Furthermore, N-FT210118 has not been found in any living individual who has had his Y-DNA tested to date, and the estimated TMRCA of N-CTS6380 exceeds the estimated date of deposition of any of the specimens from the Shamanka site associated with the Kitoi culture, so it appears that the representatives of the Kitoi culture at Shamanka (or at least their Y-DNA) have gone extinct rather than being direct ancestors of any living people. [59] [60]

N1 (CTS11499, Z4762, CTS3750)

In 2014, there was a major change in the definition of subclade N1, when LLY22g was retired as the main defining SNP for N1 because of reports of LLY22g's unreliability. According to ISOGG, LLY22g is problematic because it is a "palindromic marker and can easily be misinterpreted." [4] Since then, the name N1 has been applied to a clade marked by a great number of SNPs, including CTS11499, Z4762, and CTS3750. N1 is the most recent common ancestor of all extant members of Haplogroup N-M231 except members of the rare N2-Y6503 (N2-B482) subclade. The TMRCA of N1 is estimated to be 18,000 years before present (16,300–19,700 BP; 95% CI). [1] Since the revision of 2014, the position of many examples of "N1-LLY22g" within haplogroup N have become unclear. Therefore, it is better to check yfull and ISOGG 2019 in order to understand the updated structure of N-M231.

However, in older studies, N-LLY22g has been reported to reach a frequency of up to 30% (13/43) among the Yi people of Butuo County, Sichuan in Southwest China. [20] [61] [62] It is also found in 34.6% of Lhoba people. [62] N1-LLY22g* has been found in samples of Han Chinese, but with widely varying frequency:

Other populations in which representatives of N1*-LLY22g have been found include:

N1(xN1a,N1c) was found in ancient bones of Liao civilization: [66]

N-CTS4309: two people identified with this subgroup in Iraq. Very rare.

N1a (F1206/M2013/S11466)

The N1a2-F1008/L666 clade and N1a1-M46/Page70/Tat are estimated to share a most recent common ancestor in N1a-F1206/M2013/S11466 approximately 15,900 [95% CI 13,900 <-> 17,900] years before present [1] or 17,621 [95% CI 14,952 <-> 20,282] years before present. [3]

N1a1 (M46/Page70/Tat, L395/M2080)

All M46 in Yfull database are M178, being a quarter younger than separation from F1139. [67]

The mutations that define the subclade N-M46 [Phylogenetics 2] are M46/Tat and P105. This is the most frequent subclade of N. It probably arose in a Northeast Asian population, because the oldest ancient samples comply with this genetic profile. [68] N has experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe. [5] Haplogroup N-M46 is approximately 14,000 years old.

In Siberia, haplogroup N-M46 reaches a maximum frequency of approximately 90% among the Yakuts, a Turkic people who live mainly in the Sakha (Yakutia) Republic. However, N-M46 is present with much lower frequency among many of the Yakuts' neighbors, such as Evenks and Evens. [8] It also has been detected in 5.9% (3/51) of a sample of Hmong Daw from Laos, [63] 2.4% (2/85) of a sample from Seoul, South Korea, [26] and in 1.4% (1/70) of a sample from Tokushima, Japan. [20]

The haplogroup N-M46 has a low diversity among Yakuts suggestive of a population bottleneck or founder effect. [69] This was confirmed by a study of ancient DNA which traced the origins of the male Yakut lineages to a small group of horse-riders from the Cis-Baikal area. [70]

N-Tat has been observed with greatly varying frequency in samples from Sweden. Karlsson et al. (2006) found N-Tat in 44.7% (17/38) of a sample of Saami nomads from Jokkmokk, 19.5% (8/41) of a sample from Västerbotten, 14.5% (8/55) of a sample from Uppsala, 10.0% (4/40) of a sample from Gotland, 9.5% (4/42) of a sample from Värmland, 7.3% (3/41) of a sample from Östergötland/Jönköping, 2.4% (1/41) of a sample from Blekinge/Kristianstad, and 2.2% (1/45) of a sample from Skaraborg. [34]

Lappalainen et al. (2008) found N-Tat in 14.4% (23/160) of a sample from Sweden. [13]

Lappalainen et al. (2009) found N-Tat in 15.4% (4/26) of a sample from Södermanland, 12.5% (3/24) of a sample from Västmanland, 12.1% (4/33) of a sample from Uppsala, 7.8% (4/51) of a sample from Gothenburg, 7.0% (3/43) of a sample from Norrbotten, 6.8% (5/73) of a sample from Skåne, 6.6% (15/228) of a sample from Stockholm, 6.3% (3/48) of a sample from Sydnorrland, 6.3% (2/32) of a sample from Västerbotten, 6.3% (2/32) of a sample from Örebro, 5.9% (3/51) of a sample from Värmland/Dalarna, 5.4% (2/37) of a sample from Östra Götaland, and 5.1% (2/39) of a sample from southeastern Sweden (Kalmar, Gotland, Kronoberg, and Blekinge). They did not find any instance of N-Tat in their samples from Jönköping (0/28), Malmö (0/29), Halland (0/34), or Västra Götaland (0/75). [33]

N1a1a (M178)

The subclade N-M178 [Phylogenetics 3] is defined by the presence of markers M178 and P298. N-M178* has higher average frequency in Northern Europe than in Siberia, reaching frequencies of approximately 60% among Finns and approximately 40% among Latvians, Lithuanians & 35% among Estonians. [71] [13]

Miroslava Derenko and her colleagues noted that there are two subclusters within this haplogroup, both present in Siberia and Northern Europe, with different histories. The one that they labelled N3a1 first expanded in south Siberia and spread into Northern Europe. Meanwhile, the younger subcluster, which they labelled N3a2, originated in south Siberia (probably in the Baikal region). [71]

N-M178 was also found in two Na-Dené speaking Tłı̨chǫs in North America. [72]

Neolithic samples from Baikal area have yielded plenty of yDNA N specimens, and one sample from Fofonovo, Buryatia, 5000-4000 BC is among the first Tat samples in the ancient record. [68]

Earliest samples of N1a1a-L708 were found in Trans-Baikal (brn008, N1a1a1*-L708; brn003, N1a1a1a1*-M2126) between 8,000 and 6,000 YBP. Downstream samples were found in Yakutia (N4b2, N1a1a1a1a*-Z1979) and Krasnoyarsk Krai (kra001, N1a1a1a1a*-L392), between 5,000 and 4,000 YBP. [73] [74]

N1a2 (F1008/L666)

N1a2a-M128 and N1a2b-B523/P43 are estimated to share a most recent common ancestor in N1a2-F1008/L666 approximately 8,600 [95% CI 7,500 <-> 9,800] years before present, [1] 9,200 years before present, [75] or 9,314 [95% CI 7,419 <-> 11,264] years before present. [3]

At least three of six tested male specimens from the Early Neolithic (ceramic-using hunter-gatherer of approximately 7200–6200 years ago) layer at the Shamanka archaeological site near the southern end of Lake Baikal have been found to belong to N1a2-L666. [58]

N1a2a-M128

Haplogroup N-M128
Y-dna m128.png
Possible place of originAsia
AncestorN1a2 (F1008/L666)
DescendantsF710, F1998
Defining mutationsM128
Highest frequencies Manchus about 1% (0/43 Bijie, [76] 0/30, [19] 30/2938 = 1.0% China total [77] 1/52 = 1.9% Liaoning, [20] 2/35 = 5.7% Xiuyan Manchu Autonomous County), [15] Koreans 0/43 South Korea, [15] 0/25 China, [15] 1/75 = 1.3% South Korea, [20] Xibe 1/41 = 2.4%, [15] Han 0.89% (Shanxi 1.83%, Henan 1.53%, Gansu 1.46%, Hebei 1.41%, Shaanxi 1.40%, Tianjin 1.38%, Shandong 1.17%, Beijing 1.14%, Inner Mongolia 1.13%, Heilungjiang 1.12%, Liaoning 1.12%, Fujian 1.12%, Anhui 0.93%, Jilin 0.86%, Ningxia 0.82%, Jiangsu 0.81%, Yunnan 0.79%, Hubei 0.77%, Zhejiang 0.73%, Taiwan 0.70%, Sichuan 0.54%, Hunan 0.52%, Chongqing 0.51%, Guizhou 0.51%, Guangdong 0.45%, Hainan 0.43%, Xinjiang 0.43%, Shanghai 0.36%, Jiangxi 0.34%, Guangxi 0.23%, Qinghai 0.18%), Mongolians 0.7% (Liaoning 1.9%, Horqin 0.3%, Ulaanbaatar 0.0%), Japanese 0.3% (Tokushima 3.5%, Ibaraki 2.0%, Hiroshima 1.3%, Nagoya 1.0%, Osaka 0.2%, Tokyo 0.0%, Shizuoka 0.0%, Yamaguchi 0.0%), Kazakhs 0.1% (Khoja 1.9%, Baiuly 0.6%, Uysun 0.4%)

This subclade is defined by the presence of the marker M128. [Phylogenetics 4] N-M128 was first identified in a sample from Japan (1/23 = 4.3%) and in a sample from Central Asia and Siberia (1/184 = 0.5%) in a preliminary survey of worldwide Y-DNA variation. [51] Subsequently, it has been found with low frequency in some samples of the Manchu people, Sibe people, Evenks, Koreans, Han Chinese, Hui, Tibetans, Vietnamese, Bouyei people, Kazakhs, Uzbeks, Uyghurs, Salars, Tu, Mongols, the Buzava tribe of Kalmyks, [29] Khakas, and Komis. [5]

A number of a Han Chinese, an Ooled Mongol, a Qiang, and a Tibetan were found to belong to a sister branch (or branches) of N-M128 under paragroup N-F1154*. [78]

A neolithic sample brn002 (~5,940 BP) in Trans-Baikal was discovered to be an early offshoot upstream of N-M128. [79]

As a genetic testing result of Yelü clan, a royal family of the Liao Dynasty and Khitan descents, it was found to belong to N-F1998, a downstream of N-M128.

According to "The deep population history of northern East Asia from the Late Pleistocene to the Holocene", [80] the basal yDNA N-M128/mtDNA B5b2 HGDP01293 individual [81] occupied a position on the PCA between the Jiangsu Province’s and Anhui province’s specimens, but not far from the Shandong province’s mtDNA R11’B6>R11b specimen, [80] while a later descendant of the yDNA N-M128 clade, belonging to mtDNA R11’B6>R11b, was reported from the ancient DNA of the Western Zhou Cemetery, tomb M18. [82] Based on ancient DNA, the distribution of mtDNA B5b2 after 9500 years ago and prior to 4600 years ago in the direction of the Anhui and Jiangsu provinces from Shandong from the vicinity of the future Shandong Longshan Yinjiacheng site is shown in “Maternal genetic structure in ancient Shandong between 9500 and 1800 years ago”, [83] while the existence of the local Paleolithic Northern East Asian substratum, represented by individuals of the basal died-out yDNA O-M164*, separating from the Southern East Asian yDNA O-M188 and contributing to yDNA C2-M217 ancestors of Altaic and Korean representatives, was shown in "Human genetic history on the Tibetan Plateau in the past 5100 years". [84] Having occupied the position on the PCA between the Jiangsu Province’s and Anhui Province’s specimens, the basal yDNA N-M128/mtDNA B5b2 HGDP01293 individual became a participant of the uniform genetic cline, which spanned from Jiangsu and Anhui individuals to the Tai-speaking Dai people, and from Jiangsu and Anhui individuals to the ancient individual WGM20, belonging to mtDNA M11, of the Yangshao Wanggou site, dated to 5000-5500 years ago, and this ancient age also encompassed ancient yDNA pre-N-M128 Mazongshan individuals [85] and modern yDNA N-M128-affiliated Gansu Province’s individuals, who appeared to be included on the mentioned genetic cline closer to the ancient Henan province’s specimens of the Longshan period ca. 4000 years ago, than to the more genetically basal ancient individual WGM20 of the Yangshao Wanggou site, dated to 5000-5500 years ago. [80]

N1a2b (P43)

Haplogroup N-P43 [Phylogenetics 5] is defined by the presence of the marker P43. Additionally, haplogroup N-P43 is defined by a marker Y3214, which is shared with a younger yDNA O1b2-K14, distributed in Japan (YFull). It has been estimated to be approximately 4,000 to 5,500 years old (TMRCA 4,510 years, [75] TMRCA 4,700 [95% CI 3,800 <-> 5,600] ybp, [1] or 4,727 [95% CI 3,824 <-> 5,693] years before present). [3] It has been found very frequently among Northern Samoyedic peoples, speakers of Ob-Ugric languages, and northern Khakassians, and it also has been observed with low to moderate frequency among speakers of some other Uralic languages, Turkic peoples, Mongolic peoples, Tungusic peoples, and Siberian Yupik people.

The highest frequencies of N-P43 are observed among north-west Siberian populations: 92% (35/38) [5] in a sample of Nganasan, 78% (7/9) [86] [14] in a sample of Enets, 78% (21/27) [31] in a sample of Khants, 75% (44/59) [5] in a sample of Tundra Nenets, 69% (29/42) [3] in another sample of Nenets, 60% (15/25) [12] in a sample of Mansi, 57% (64/112) [11] in another sample of Khants, 54% (27/50) [3] in another sample of Nganasan, 45% (40/89) [5] in a sample of Forest Nenets, 38% (18/47) [87] in a third sample of Khants, and 25% (7/28) [12] in a fourth sample of Khants. In Europe, the N-P43 types have their highest frequency of 20% among Volga-Uralic populations. The extreme western border of the spread of N-P43 is Finland, where this haplogroup occurs only at marginal frequency – 0.4%. Yet N-P43 is quite frequent among Vepsas (17.9%), a small Finnic population living in immediate proximity to Finns, Karelians and Estonians. [5]

Haplogroup N-P43 also has been observed with very high frequency (26/29 = 89.7% of a sample from the settlement of Topanov and 19/22 = 86.4% of a sample from the settlement of Malyi Spirin) in samples of Kachins, a Turkic-speaking ethnic group or territorial subgroup of the Khakas people, from Shirinsky District of northern Khakassia. [9] There appears to be a cline through the Sagai (another Turkic-speaking ethnic group that is now considered to be a constituent of the Khakas people), with 46.2% (55/119) of Sagai sampled from Ust'–Es', Esino, Ust'–Chul', and Kyzlas settlements of Askizsky District of central Khakassia belonging to haplogroup N-P43 vs. only 13.6% (11/81) of Sagai sampled from Matur, Anchul', Bol'shaya Seya, and Butrakhty settlements of Tashtypsky District of southern Khakassia belonging to this haplogroup. [9] However, other researchers' samples of Khakas people have exhibited only moderate frequencies of N-P43 or potential N-P43. Derenko et al. (2006) examined a sample of Khakassians (n=53) collected in the settlements of Askiz, Shirinsk, Beisk and Ordzhonikidzevsk districts of Khakass Republic and found that 15 of them (28.3%) belonged to N-LLY22g(xTat). [18] Rootsi et al. (2007) examined a sample of Khakas (n=181) and found that 31 of them (17.1%) belonged to N-P43; [5] retested 174 of the individuals in this sample and found that 27 of them (15.5%) belonged to the N-B478 (Asian/northern Samoyedic) subclade of N-P43 and 2 of them (1.1%) belonged to the N-L1419 (European/Volga Finnic and Chuvash) subclade of N-P43 for a total of 29 (16.7%) N-P43. [3]

Haplogroup N-P43 forms two distinctive subclusters of STR haplotypes, Asian and European, the latter mostly distributed among Finno-Ugric-speaking peoples and related populations. [5]

N1a2b1-B478

The TMRCA of N-B478 has been estimated to be 3,007 [95% CI 2,171 <-> 3,970] years before present. [3] It is one of the most prevalent Y-DNA haplogroups among indigenous populations of northwestern Siberia: 69.0% (29/42) Nenets, 50.0% (25/50) Nganasan, 22.2% (12/54) Dolgan from Taymyr, 7.0% (3/43) Selkup, 1.6% (1/63) Ob-Ugrian. It is also quite prevalent among populations of Central Siberia, Southern Siberia, and Mongolia: 17.9% (17/95) Tuvan, 15.5% (27/174) Khakas, 13.0% (6/46) Tozhu Tuvans, [28] 8.7% (2/23) Shor, 8.3% (2/24) Even, 8.2% (5/61) Altaian, 5.3% (3/57) Evenk, 5.0% (19/381) Mongol, 4.9% (3/61) Sart-Kalmak (partial descendants of Oirat Mongols in Kyrgyzstan), [28] 4.2% (9/216) Yakut, 2.1% (1/47) Torgut (Mongolia), [28] 1.4% (1/69) Derbet (Kalmykia), [28] 0.9% (1/111) Buryat. A geographically outlying member has been found in a sample of Chuvash (1/114 = 0.88%). [3]

Karafet et al. (2018) have found N-P63, which appears to be roughly phylogenetically equivalent to N-B478, in 91.2% (31/34) Nganasan, 63.8% (30/47) Tundra Nenets, 42.7% (35/82) Forest Nenets, 14.0% (8/57) Dolgan, 7.0% (9/129) Selkup, 3.3% (3/91) Evenk, 2.7% (2/75) Mongol, 2.6% (2/78) Komi, 2.5% (2/80) Buryat, and 2.0% (2/98) Altai Kizhi. [6] This haplogroup was not observed in samples of Yukaghir (0/10), Koryak (0/11), Teleut (0/40), Ket (0/44), Yakut (0/62), or Khanty (0/165) populations. [6]

Kharkov et al. (2023) have found N-B478 in greatly differing percentages of samples of Khanty from two different villages of Khanty-Mansi Autonomous Okrug: 60.9% (39/64) of a sample of Khanty from the village of Russkinskaya, Surgut district and 14.8% (8/54) of a sample of Khanty from the village of Kazym, Beloyarsky district. Five of the eight members from the village of Kazym share a subclade marked by the B172 and Z35108 SNPs with all previously surveyed Nenets men from the Vanuito phratry belonging to the Vanuito, Puiko and Yaungat clans and the Purungui clan of Khanty origin. [88]

N1b (F2930)

Haplogroup N1b has been predominantly found in the Yi people, a Tibeto-Burman speaking ethnic group in southwestern China who originated from ancient Qiang tribes in northwestern China. [55] However, it also has been found in people all over China (where they account for approximately 3.62% of the country's male population and are mainly distributed in Shandong, Jiangsu, Zhejiang, Anhui, etc. [89] ) and in some individuals from Spain, [59] Ecuador, [59] Poland, [59] [1] Belarus, [59] Russia, [59] [1] Iraq, [59] India, [59] [1] Kazakhstan, [59] Korea, [59] [1] Japan, [59] [1] Bhutan, [59] Vietnam, [59] [1] Cambodia, [59] [1] Laos, [59] Thailand, [59] [1] Malaysia, [1] and Singapore. [1]

N2 (Y6503)

N2 (Y6503/FGC28528; B482/FGC28394/Y6584) – a primary branch of haplogroup N-M231, is now represented mainly by a subclade, N-FGC28435, that has spread probably some time in the first half of the second millennium CE [90] and that has been found in individuals from Serbia, Croatia, Bosnia and Herzegovina, Montenegro, and Turkey (Istanbul). [91] [90]

N-Y7310 (or N-F14667) subsumes N-FGC28435 and likewise probably descends from a common ancestor who has lived some time in the first half of the last millennium. However, members of N-Y7310(xFGC28435) exhibit a greater geographic range, including an individual from Rostov Oblast of Russia and a Romanian Hungarian individual with ancestry from Suceava, Bukovina. [1]

Other branches of N-P189 include members from Turkey, [1] Russia (Moscow Oblast), [1] France (Charente-Maritime), [1] and England (Devon). [1] [59] The most recent common ancestor of all the aforementioned extant N-P189 lineages has been estimated to be 4,900 (95% CI 5,700 <-> 4,100) years before present. [1] An archaeological specimen attributed to the Botai culture of northern Kazakhstan and dated to the latter half of the fourth millennium BCE belongs to N-P189*, being basal to present-day European members of N-P189. [92] [1]

Lineages that belong to N-Y6503(xP189) and are only distantly related (with a time to most recent common ancestor estimated to be greater than 10,000 years before present) [1] to the aforementioned members of N-P189 have been found in an individual from the present-day Altai Republic [1] and probably also in an archaeological specimen attributed to the Iron Age Mezőcsát culture of what is now Hungary (approx. 2,900 years before present) [93] and in an archaeological specimen attributed to the Kitoi culture of ceramic-using foragers of the area around Lake Baikal (approx. 6,700 years before present). [92]

Ancient peoples

A sample excavated at the Houtaomuga site in the Yonghe neighborhood of Honggangzi Township, Da'an, Jilin, China dating back to 7430–7320 years ago (Phase II of the Early Neolithic) has been found to belong to Y-DNA haplogroup N and mtDNA haplogroup B4c1a2. This sample is autosomally identical with the Neolithic Amur River Basin populations, of which Nivkh people are the closest modern representative. As the paper detected this ancestry in terminal Pleistocene USR1 specimen in Alaska, it is therefore, postulated that there was gene flow from Amur to America of a population belonging to a hypothetical Chukotko-Kamchatkan–Nivkh linguistic family.[ citation needed ]

N has also been found in many samples of Neolithic human remains exhumed from Liao civilization in northeastern China, and in the circum-Baikal area of southern Siberia. [66] It is suggested that yDNA N, reached southern Siberia from 12 to 14 kya. From there it reached southern Europe 8-10kya. [52]

Phylogeny

Phylogenetic tree

In the following tree the nomenclature of three sources is separated by slashes: ISOGG Tree 10 December 2017 (ver.12.317)

History of phylogenetic nomenclature

Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome Phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being above all timely. The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.

YCC 2002/2008 (Shorthand)(α)(β)(γ)(δ)(ε)(ζ)(η)YCC 2002 (Longhand)YCC 2005 (Longhand)YCC 2008 (Longhand)YCC 2010r (Longhand)ISOGG 2006ISOGG 2007ISOGG 2008ISOGG 2009ISOGG 2010ISOGG 2011ISOGG 2012
N-LLY22g 12VIII1U25Eu16H5FN*NN1N1-------
N-M128 12VIII1U25Eu16H5FN1N1N1aN1a-------
N-P63 12VIII1U25Eu16H5FN2N2aN1b1N1b1-------
N-TAT 12VIII1I26Eu13H5FN3*N3N1cN1c-------
N-M178 16VIII1I26Eu14H5FN3a*M178N1c1N1c1-------
N-P21 16VIII1I26Eu14H5FN3a1N3a1N1c1aN1c1a-------

Sources The following research teams per their publications were represented in the creation of the YCC Tree.

Unreliable mutations (SNPs and UEPs)

The b2/b3 deletion in the AZFc region of the Y-chromosome appears to have occurred independently on at least four different occasions. Therefore, this deletion should not be taken as a unique event polymorphism defining this branch of the Y-chromosome tree ( ISOGG 2012 ).

Y-DNA N subclades

  • N-M231

Y-DNA backbone tree

Related Research Articles

<span class="mw-page-title-main">Haplogroup G-M201</span> Human Y chromosome DNA grouping common in western Eurasia

Haplogroup G (M201) is a human Y-chromosome haplogroup. It is one of two branches of the parent haplogroup GHIJK, the other being HIJK.

<span class="mw-page-title-main">Haplogroup J-M172</span> Human Y-chromosome DNA haplogroup

In human genetics, Haplogroup J-M172 or J2 is a Y-chromosome haplogroup which is a subclade (branch) of haplogroup J-M304. Haplogroup J-M172 is common in modern populations in Western Asia, Central Asia, South Asia, Southern Europe, Northwestern Iran and North Africa. It is thought that J-M172 may have originated in the Caucasus, Anatolia and/or Western Iran.

<span class="mw-page-title-main">Haplogroup F (mtDNA)</span> Human mitochondrial DNA haplogroup

Haplogroup F is a human mitochondrial DNA (mtDNA) haplogroup. The clade is most common in East Asia and Southeast Asia. It has not been found among Native Americans.

<span class="mw-page-title-main">Haplogroup C (mtDNA)</span> Human mitochondrial DNA haplogroup

In human mitochondrial genetics, Haplogroup C is a human mitochondrial DNA (mtDNA) haplogroup.

In human mitochondrial genetics, Haplogroup Z is a human mitochondrial DNA (mtDNA) haplogroup.

<span class="mw-page-title-main">Haplogroup C-M130</span> Human Y chromosome DNA grouping found primarily in Asia

Haplogroup C is a major Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, P184, P255, and P260, which are all SNP mutations. It is one of two primary branches of Haplogroup CF alongside Haplogroup F. Haplogroup C is found in ancient populations on every continent except Africa and is the predominant Y-DNA haplogroup among males belonging to many peoples indigenous to East Asia, Central Asia, Siberia, North America and Australia as well as a some populations in Europe, the Levant, and later Japan.

Haplogroup O-M122 is an Eastern Eurasian Y-chromosome haplogroup. The lineage ranges across Southeast Asia and East Asia, where it dominates the paternal lineages with extremely high frequencies. It is also significantly present in Central Asia, especially among the Naiman tribe of Kazakhs.

<span class="mw-page-title-main">Haplogroup Q-M242</span> Human Y chromosome DNA grouping common among Native Americans

Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has one primary subclade, Haplogroup Q1 (L232/S432), which includes numerous subclades that have been sampled and identified in males among modern populations.

<span class="mw-page-title-main">Haplogroup R1</span> Y-chromosome DNA haplogroup

Haplogroup R1, or R-M173, is a Y-chromosome DNA haplogroup. A primary subclade of Haplogroup R (R-M207), it is defined by the SNP M173. The other primary subclade of Haplogroup R is Haplogroup R2 (R-M479).

<span class="mw-page-title-main">Human Y-chromosome DNA haplogroup</span> Human DNA groupings

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of DNA from the male-specific Y chromosome. Many people within a haplogroup share similar numbers of short tandem repeats (STRs) and types of mutations called single-nucleotide polymorphisms (SNPs).

<span class="mw-page-title-main">Haplogroup NO1</span> Human Y-chromosome DNA haplogroup

Haplogroup NO1, also known as NO-M214, is a human Y-chromosome DNA haplogroup. NO1 is the sole confirmed subclade of Haplogroup K- M2313, which is the sole subclade of Haplogroup K2a (K-M2308). NO is the dominant Y-DNA haplogroup in most parts of eastern and northern Eurasia, including East Asia, Siberia and northern Fennoscandia.

<span class="mw-page-title-main">Haplogroup C-M217</span> Human Y-chromosome DNA haplogroup

Haplogroup C-M217, also known as C2, is a Y-chromosome DNA haplogroup. It is the most frequently occurring branch of the wider Haplogroup C (M130). It is found mostly in Central Asia, Eastern Siberia and significant frequencies in parts of East Asia and Southeast Asia including some populations in the Caucasus, Middle East, South Asia, East Europe. It is found in a much more widespread area with a low frequency of less than 2%.

<span class="mw-page-title-main">Haplogroup DE</span> Human Y chromosome DNA grouping indicating common ancestry

Haplogroup DE is a human Y-chromosome DNA haplogroup. It is defined by the single nucleotide polymorphism (SNP) mutations, or UEPs, M1(YAP), M145(P205), M203, P144, P153, P165, P167, P183. DE is unique because it is distributed in several geographically distinct clusters. An immediate subclade, haplogroup D, is mainly found in East Asia, parts of Central Asia, and the Andaman Islands, but also sporadically in West Africa and West Asia. The other immediate subclade, haplogroup E, is common in Africa, and to a lesser extent the Middle East and southern Europe.

<span class="mw-page-title-main">Haplogroup BT</span> Human Y chromosome DNA grouping indicating common ancestry

Haplogroup BT M91, also known as Haplogroup A1b2, is a Y-chromosome haplogroup. BT is a subclade of haplogroup A1b (P108) and a sibling of the haplogroup A1b1 (L419/PF712).

<span class="mw-page-title-main">Haplogroup R1a</span> Human Y-chromosome DNA haplogroup

Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia, extending from Scandinavia and Central Europe to Central Asia, southern Siberia and South Asia.

<span class="mw-page-title-main">Haplogroup R1b</span> Type of paternal lineage

Haplogroup R1b (R-M343), previously known as Hg1 and Eu18, is a human Y-chromosome haplogroup.

Haplogroup E-M75 is a human Y-chromosome DNA haplogroup. Along with haplogroup E-P147, it is one of the two main branches of the older haplogroup E-M96.

Haplogroup C-M48 also known as C2b1a2 is a Y-chromosome DNA haplogroup.

<span class="mw-page-title-main">Haplogroup R-M269</span> Gene group

Haplogroup R-M269 is the sub-clade of human Y-chromosome haplogroup R1b that is defined by the SNP marker M269. According to ISOGG 2020 it is phylogenetically classified as R1b1a1b. It underwent intensive research and was previously classified as R1b1a2, R1b1c, R1b1b2 and R1b1a1a2.

<span class="mw-page-title-main">Haplogroup D-CTS3946</span> Human Y-chromosome DNA haplogroup

Haplogroup D, also known as D-CTS3946, is a Y-chromosome haplogroup. Like its relative distant sibling, haplogroup E-M96, D-CTS3946 has the YAP+ unique-event polymorphism, which defines their parent, haplogroup DE. D-CTS3946 has two basal branches, D1 and D2. D1 and D2 are found primarily in East Asia, at low frequency in Central Asia and Southeast Asia, and at very low frequency in Western Africa and Western Asia.

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  99. ↑ Jobling & Tyler-Smith 2000
  100. ↑ Kaladjieva et al. 2001
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  102. ↑ Hammer et al. 2001
  103. ↑ Semino et al. 2000
  104. ↑ Su et al. 1999
  105. ↑ Capelli et al. 2001

Bibliography

Websites

Sources for conversion tables

Further reading

Phylogenetics

  1. ↑ The b2/b3 deletion in the AZFc region of the human Y-chromosome is a characteristic of Haplogroup N-M231 haplotypes. This deletion, however, appears to have occurred independently on four different occasions. Therefore this deletion should not be thought as a unique event polymorphism contributing to the definition of this branch of the Y-chromosome tree (ISOGG 2012).
  2. ↑ This table shows historic names for N-M46 (AKA N-Tat) from peer reviewed literature.
    YCC 2002/2008 (Shorthand)N-M46/N-TAT
    Jobling and Tyler-Smith 200012
    Underhill 2000VIII
    Hammer 20011I
    Karafet 200126
    Semino 2000Eu13
    Su 1999H5
    Capelli 2001F
    YCC 2002 (Longhand)N3*
    YCC 2005 (Longhand)N3
    YCC 2008 (Longhand)N1c
    YCC 2010r (Longhand)N1c
  3. ↑ This table shows historic names for N-M178 from peer reviewed literature.
    YCC 2002/2008 (Shorthand)N-M178
    Jobling and Tyler-Smith 200016
    Underhill 2000VIII
    Hammer 20011I
    Karafet 200126
    Semino 2000Eu14
    Su 1999H5
    Capelli 2001F
    YCC 2002 (Longhand)N3a*
    YCC 2005 (Longhand)M178
    YCC 2008 (Longhand)N1c1
    YCC 2010r (Longhand)N1c1
  4. ↑ This table shows historic names for N-M128 from peer reviewed literature.
    YCC 2002/2008 (Shorthand)N-M128
    Jobling and Tyler-Smith 200012
    Underhill 2000VIII
    Hammer 20011U
    Karafet 200125
    Semino 2000Eu16
    Su 1999H5
    Capelli 2001F
    YCC 2002 (Longhand)N1
    YCC 2005 (Longhand)N1
    YCC 2008 (Longhand)N1a
    YCC 2010r (Longhand)N1a
  5. ↑ This branch is sometimes called N1b in early trees.
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