Haplogroup_N_(Y-DNA)

Haplogroup N-M231

Haplogroup N-M231

Human Y chromosome DNA grouping common in North Eurasia


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

Quick Facts Possible time of origin, Coalescence age ...

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.[52]

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.[52] (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 Finnic 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-Tat 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 and sporadically throughout other parts of Eurasia. N1a-F1206/M2013/S11466 is found in high numbers in Northern Eurasia.

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*.[56] 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.[57] 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.[58][59]

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][60][61] It is also found in 34.6% of Lhoba people.[61] 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:[65]

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.[66]

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.[67][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,[62] 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.[67]

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.[57]

N1a2a-M128

Quick Facts Possible place of origin, Ancestor ...

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.

In "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] Basing 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,[58] Ecuador,[58] Poland,[58][1] Belarus,[58] Russia,[58][1] Iraq,[58] India,[58][1] Kazakhstan,[58] Korea,[58][1] Japan,[58][1] Bhutan,[58] Vietnam,[58][1] Cambodia,[58][1] Laos,[58] Thailand,[58][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][58] 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.[68]

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.[65] 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.

More information YCC 2002/2008 (Shorthand), (α) ...

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


References

  1. YFull Haplogroup YTree v6.05.11 at 25 September 2018.
  2. Poznik GD, Xue Y, Mendez FL, Willems TF, Massaia A, Wilson Sayres MA, et al. (June 2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–599. doi:10.1038/ng.3559. PMC 4884158. PMID 27111036.
  3. Karafet TM, Osipova LP, Savina OV, Hallmark B, Hammer MF (November 2018). "Siberian genetic diversity reveals complex origins of the Samoyedic-speaking populations". American Journal of Human Biology. 30 (6): e23194. doi:10.1002/ajhb.23194. PMID 30408262.
  4. Fedorova SA, Reidla M, Metspalu E, Metspalu M, Rootsi S, Tambets K, et al. (June 2013). "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia". BMC Evolutionary Biology. 13 (13): 127. Bibcode:2013BMCEE..13..127F. doi:10.1186/1471-2148-13-127. PMC 3695835. PMID 23782551.
  5. Saygin D, Tabib T, Bittar HE, Valenzi E, Sembrat J, Chan SY, et al. (2011). "Transcriptional profiling of lung cell populations in idiopathic pulmonary arterial hypertension". Pulmonary Circulation. 10 (1): 404–416. doi:10.1134/S0026893311020117. PMC 7052475. PMID 32166015. S2CID 37140960.
  6. Pimenoff VN, Comas D, Palo JU, Vershubsky G, Kozlov A, Sajantila A (October 2008). "Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers". European Journal of Human Genetics. 16 (10): 1254–1264. doi:10.1038/ejhg.2008.101. PMID 18506205. S2CID 19488203.
  7. Tambets K, Yunusbayev B, Hudjashov G, Ilumäe AM, Rootsi S, Honkola T, et al. (September 2018). "Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations". Genome Biology. 19 (1): 139. doi:10.1186/s13059-018-1522-1. PMC 6151024. PMID 30241495.
  8. Saygin D, Tabib T, Bittar HE, Valenzi E, Sembrat J, Chan SY, et al. (2015). "Transcriptional profiling of lung cell populations in idiopathic pulmonary arterial hypertension". Pulmonary Circulation. 10 (1): 146–152. doi:10.1016/j.aeae.2015.09.015. PMC 7052475. PMID 32166015.
  9. Pliss L, Timša L, Rootsi S, Tambets K, Pelnena I, Zole E, et al. (November 2015). "Y-Chromosomal Lineages of Latvians in the Context of the Genetic Variation of the Eastern-Baltic Region". Annals of Human Genetics. 79 (6): 418–430. doi:10.1111/ahg.12130. PMID 26411886. S2CID 13050610.
  10. Derenko M, Malyarchuk B, Denisova GA, Wozniak M, Dambueva I, Dorzhu C, et al. (January 2006). "Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions". Human Genetics. 118 (5): 591–604. doi:10.1007/s00439-005-0076-y. PMID 16261343. S2CID 23011845.
  11. Kim SH, Kim KC, Shin DJ, Jin HJ, Kwak KD, Han MS, et al. (April 2011). "High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea". Investigative Genetics. 2 (1): 10. doi:10.1186/2041-2223-2-10. PMC 3087676. PMID 21463511.
  12. Saygin D, Tabib T, Bittar HE, Valenzi E, Sembrat J, Chan SY, et al. (2014). "Transcriptional profiling of lung cell populations in idiopathic pulmonary arterial hypertension". Pulmonary Circulation. 10 (1): 180–190. doi:10.1134/S1022795413110082. PMC 7052475. PMID 32166015. S2CID 15595963.
  13. Dulik MC, Zhadanov SI, Osipova LP, Askapuli A, Gau L, Gokcumen O, et al. (February 2012). "Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians". American Journal of Human Genetics. 90 (2): 229–246. doi:10.1016/j.ajhg.2011.12.014. PMC 3276666. PMID 22281367.
  14. Zhong H, Shi H, Qi XB, Duan ZY, Tan PP, Jin L, et al. (January 2011). "Extended Y chromosome investigation suggests postglacial migrations of modern humans into East Asia via the northern route". Molecular Biology and Evolution. 28 (1): 717–727. doi:10.1093/molbev/msq247. PMID 20837606.
  15. Di Cristofaro J, Pennarun E, Mazières S, Myres NM, Lin AA, Temori SA, et al. (2013). "Afghan Hindu Kush: where Eurasian sub-continent gene flows converge". PLOS ONE. 8 (10): e76748. Bibcode:2013PLoSO...876748D. doi:10.1371/journal.pone.0076748. PMC 3799995. PMID 24204668.
  16. Balinova N, Post H, Kushniarevich A, Flores R, Karmin M, Sahakyan H, et al. (September 2019). "Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia". European Journal of Human Genetics. 27 (9): 1466–1474. doi:10.1038/s41431-019-0399-0. PMC 6777519. PMID 30976109.
  17. Malyarchuk B, Derenko M, Denisova G, Khoyt S, Woźniak M, Grzybowski T, Zakharov I (December 2013). "Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels". Journal of Human Genetics. 58 (12): 804–811. doi:10.1038/jhg.2013.108. PMID 24132124.
  18. Mirabal S, Regueiro M, Cadenas AM, Cavalli-Sforza LL, Underhill PA, Verbenko DA, et al. (October 2009). "Y-chromosome distribution within the geo-linguistic landscape of northwestern Russia". European Journal of Human Genetics. 17 (10): 1260–1273. doi:10.1038/ejhg.2009.6. PMC 2986641. PMID 19259129.
  19. Wang XQ, Wang CC, Deng QY, Li H (February 2013). "[Genetic analysis of Y chromosome and mitochondrial DNA poly-morphism of Mulam ethnic group in Guangxi, China]". Yi Chuan = Hereditas (in Chinese). 35 (2): 168–74. doi:10.3724/sp.j.1005.2013.00168. PMID 23448929.
  20. Lappalainen T, Hannelius U, Salmela E, von Döbeln U, Lindgren CM, Huoponen K, et al. (January 2009). "Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis". Annals of Human Genetics. 73 (1): 61–73. doi:10.1111/j.1469-1809.2008.00487.x. PMID 19040656. S2CID 205598345.
  21. Karlsson AO, Wallerström T, Götherström A, Holmlund G (August 2006). "Y-chromosome diversity in Sweden - a long-time perspective". European Journal of Human Genetics. 14 (8): 963–970. doi:10.1038/sj.ejhg.5201651. PMID 16724001. S2CID 23227271.
  22. Sun Seong Choi, Kyung Hwa Park, Da Eun Nam, Tae Hoon Kang, Ki Wha Chung, et al., "Y-chromosome haplogrouping for Asians using Y-SNP target sequencing."
  23. Sungwon Jeon, Youngjune Bhak, Yeonsong Choi, et al., "Korean Genome Project: 1094 Korean personal genomes with clinical information." Science Advances 2020; 6 : eaaz7835.
  24. Soon Hee Kim; Byung Won Chun; Jongwoo Jung; Brian M. Kemp; et al. (July 2005). "A preliminary study on the origin of Koreans based on Y-STR variation". International Journal of Legal Medicine. 32 (4): 353–359. doi:10.1007/s13258-010-0030-9. S2CID 7277981.
  25. KS Jeong; HJ Shin; SJ Lee; HS Kim; JY Kim; MS Han; YH Lee; KW Park; BW Chun (2018). "Genetic characteristics of Y-chromosome short tandem repeat haplotypes from cigarette butt samples presumed to be smoked by North Korean men". International Journal of Legal Medicine. 40 (8): 819–824. doi:10.1007/s13258-018-0701-5. PMID 30047114. S2CID 256072306.
  26. Park MJ, Lee HY, Yang WI, Shin KJ (July 2012). "Understanding the Y chromosome variation in Korea--relevance of combined haplogroup and haplotype analyses". International Journal of Legal Medicine. 126 (4): 589–599. doi:10.1007/s00414-012-0703-9. PMID 22569803. S2CID 27644576.
  27. Balanovska EV, Bogunov YV, Kamenshikova EN, Balaganskaya OA, Agdzhoyan AT, Bogunova AA, et al. (October 2018). "Demographic and genetic portraits of the Ulchi population". Russian Journal of Genetics. 54 (10): 1245–1253. doi:10.1134/S1022795418100046. S2CID 53085396.
  28. Qi X, Cui C, Peng Y, Zhang X, Yang Z, Zhong H, et al. (August 2013). "Genetic evidence of paleolithic colonization and neolithic expansion of modern humans on the tibetan plateau". Molecular Biology and Evolution. 30 (8): 1761–1778. doi:10.1093/molbev/mst093. PMID 23682168.
  29. Ashirbekov EE, Botbaev DM, Belkozhaev AM, Abayldaev AO, Neupokoeva AS, Mukhataev JE, et al. (2017). "Distribution of Y-Chromosome Haplogroups of the Kazakh from the South Kazakhstan, Zhambyl, and Almaty Regions". Reports of the National Academy of Sciences of the Republic of Kazakhstan. 6 (316): 85–95.
  30. Brunelli A, Kampuansai J, Seielstad M, Lomthaisong K, Kangwanpong D, Ghirotto S, Kutanan W (2017). "Y chromosomal evidence on the origin of northern Thai people". PLOS ONE. 12 (7): e0181935. Bibcode:2017PLoSO..1281935B. doi:10.1371/journal.pone.0181935. PMC 5524406. PMID 28742125.
  31. Shuhu LI, Yilihamu NI, Bake RA, Bupatima AB, Matyusup DO (March 2018). "A study of genetic diversity of three isolated populations in Xinjiang using Y-SNP". Acta Anthropologica Sinica. 37 (1): 146–156.
  32. Yan L (2011). 中国西部人群的遗传混合 [Genetic Mixture of Populations in Western China.] (Ph.D. thesis) (in Chinese). Shanghai: Fudan University. pp. 1–84.
  33. Wen SQ, Du PX, Sun C, Cui W, Xu YR, Meng HL, et al. (March 2022). "Dual origins of the Northwest Chinese Kyrgyz: the admixture of Bronze age Siberian and Medieval Niru'un Mongolian Y chromosomes". Journal of Human Genetics. 67 (3): 175–180. doi:10.1038/s10038-021-00979-x. PMID 34531527. S2CID 237546416.
  34. Nonaka, I; Minaguchi, K; Takezaki, N (July 2007). "Y-chromosomal binary haplogroups in the Japanese population and their relationship to 16 Y-STR polymorphisms". Annals of Human Genetics. 71 (4): 480–495. doi:10.1111/j.1469-1809.2006.00343.x. hdl:10130/491. PMID 17274803. S2CID 1041367.
  35. Harayama, Yuta; Kamei, Sayako; Sato, Noriko; Hayashi, Tokutaro; et al. (January 2014). "Analysis of Y chromosome haplogroups in Japanese population using short amplicons and its application in forensic analysis" (PDF). Legal Medicine. 16 (1): 20–25. doi:10.1016/j.legalmed.2013.10.005. hdl:10091/17954. PMID 24262653. S2CID 19534157.
  36. Ochiai, Eriko; Minaguchi, Kiyoshi; Nambiar, Phrabhakaran; Kakimoto, Yu; et al. (September 2016). "Evaluation of Y chromosomal SNP haplogrouping in the HID-Ion AmpliSeq™ Identity Panel". Legal Medicine. 22: 58–61. doi:10.1016/j.legalmed.2016.08.001. PMID 27591541. S2CID 43668117.
  37. Karmin M, Saag L, Vicente M, Wilson Sayres MA, Järve M, Talas UG, et al. (April 2015). "A recent bottleneck of Y chromosome diversity coincides with a global change in culture". Genome Research. 25 (4): 459–466. doi:10.1101/gr.186684.114. PMC 4381518. PMID 25770088.
  38. de Barros Damgaard P, Martiniano R, Kamm J, Moreno-Mayar JV, Kroonen G, Peyrot M, et al. (June 2018). "The first horse herders and the impact of early Bronze Age steppe expansions into Asia". Science. 360 (6396): eaar7711. doi:10.1126/science.aar7711. PMC 6748862. PMID 29743352.
  39. Saygin D, Tabib T, Bittar HE, Valenzi E, Sembrat J, Chan SY, et al. (2020). "Transcriptional profiling of lung cell populations in idiopathic pulmonary arterial hypertension". Pulmonary Circulation. 10 (1). doi:10.1101/2020.10.12.336628. PMC 7052475. PMID 32166015. S2CID 222823143.
  40. Dulik MC, Owings AC, Gaieski JB, Vilar MG, Andre A, Lennie C, et al. (May 2012). "Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations". Proceedings of the National Academy of Sciences of the United States of America. 109 (22): 8471–8476. Bibcode:2012PNAS..109.8471D. doi:10.1073/pnas.1118760109. PMC 3365193. PMID 22586127.
  41. Kılınç GM, Kashuba N, Koptekin D, Bergfeldt N, Dönertaş HM, Rodríguez-Varela R, et al. (January 2021). "Human population dynamics and Yersinia pestis in ancient northeast Asia". Science Advances. 7 (2): eabc4587. Bibcode:2021SciA....7.4587K. doi:10.1126/sciadv.abc4587. PMC 7787494. PMID 33523963.
  42. "N-L708 YTree". Retrieved 2022-11-28.
  43. Chen J, He G, Ren Z, Wang Q, Liu Y, Zhang H, Yang M, Zhang H, Ji J, Zhao J, Guo J, Zhu K, Yang X, Wang R, Ma H, Wang C-C and Huang J (2021), "Genomic Insights Into the Admixture History of Mongolic- and Tungusic-Speaking Populations From Southwestern East Asia." Front. Genet. 12:685285. doi: 10.3389/fgene.2021.685285
  44. "Zhōngguó mǎnzú qúntǐ fùxì dān bèi qún jí mínzú xiě tǒng gòuchéng qíngkuàng jiǎnjiè" 中国满族群体父系单倍群及民族血统构成情况简介 [A brief introduction to the paternal haplogroup and ethnic origin composition of the Manchu people in China]. 23mofang (in Chinese). 2021-01-21. Retrieved 2024-03-11.
  45. Mao, Xiaowei; Zhang, Hucai; Qiao, Shiyu; Liu, Yichen; et al. (June 2021). "The deep population history of northern East Asia from the Late Pleistocene to the Holocene". Cell. 184 (12): 3256–3266.e13. doi:10.1016/j.cell.2021.04.040. ISSN 0092-8674. PMID 34048699.
  46. Wang, Hongru; Yang, Melinda A.; Wangdue, Shargan; Lu, Hongliang; et al. (2023-03-15). "Human genetic history on the Tibetan Plateau in the past 5100 years". Science Advances. 9 (11): eadd5582. Bibcode:2023SciA....9D5582W. doi:10.1126/sciadv.add5582. ISSN 2375-2548. PMC 10022901. PMID 36930720.
  47. Kharkov, V.N.; Kolesnikov, N.A.; Valikhova, L.V.; Zarubin, A.A.; et al. (March 2023). "Relationship of the gene pool of the Khants with the peoples of Western Siberia, Cis-Urals and the Altai-Sayan Region according to the data on the polymorphism of autosomic locus and the Y-chromosome". Vavilovskij Žurnal Genetiki i Selekcii [Vavilov Journal of Genetics and Breeding]. 27 (1): 46–54. doi:10.18699/VJGB-23-07. eISSN 2500-3259. PMC 10009483. PMID 36923476. S2CID 257478780.
  48. N-P189.2 YFull, 2018, (24 June 2018).
  49. de Barros Damgaard, Peter; Marchi, Nina; Rasmussen, Simon; Peyrot, Michaël; et al. (May 9, 2018). "137 ancient human genomes from across the Eurasian steppes". Nature. 557 (7705): 369–374. Bibcode:2018Natur.557..369D. doi:10.1038/s41586-018-0094-2. hdl:1887/3202709. PMID 29743675. S2CID 256769352.
  50. Gamba, Cristina; Jones, Eppie R.; Teasdale, Matthew D.; McLaughlin, Russell L.; et al. (2014-10-21). "Genome flux and stasis in a five millennium transect of European prehistory" (PDF). Nature Communications. 5: 5257. Bibcode:2014NatCo...5.5257G. doi:10.1038/ncomms6257. PMC 4218962. PMID 25334030. S2CID 19587039.
  51. Lippold, Sebastian; Xu, Hongyang; Ko, Albert; Li, Mingkun; et al. (2014-09-24). "Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences" (PDF). Investigative Genetics. 5: 13. doi:10.1186/2041-2223-5-13. PMC 4174254. PMID 25254093. S2CID 16464327.
  52. Wang, Ling-Xiang; Lu, Yan; Zhang, Chao; Wei, Lan-Hai; et al. (October 2018). "Reconstruction of Y-chromosome phylogeny reveals two neolithic expansions of Tibeto-Burman populations". Molecular Genetics and Genomics. 293 (5): 1293–1300. doi:10.1007/s00438-018-1461-2. PMID 29923068. S2CID 49311699.

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.
    More information YCC 2002/2008 (Shorthand), N-M46/N-TAT ...
  3. This table shows historic names for N-M178 from peer reviewed literature.
    More information YCC 2002/2008 (Shorthand), N-M178 ...
  4. This table shows historic names for N-M128 from peer reviewed literature.
    More information YCC 2002/2008 (Shorthand), N-M128 ...
  5. This branch is sometimes called N1b in early trees.

Share this article:

This article uses material from the Wikipedia article Haplogroup_N_(Y-DNA), and is written by contributors. Text is available under a CC BY-SA 4.0 International License; additional terms may apply. Images, videos and audio are available under their respective licenses.