Haplogroup N-M231

Haplogroup N
Possible time of origin 36,800 [95% CI 34,300 <-> 39,300] years before present (YFull[1])

41,900 [95% CI 31,294 <-> 51,202] years ago[2]
Possible place of origin East Asia[3][4]
Coalescence age 22,100 [95% CI 19,800 <-> 24,400] ybp (YFull[1])

19,153 [95% CI 13,677 <-> 24,422] years ago[2]

about 21,000 years ago[5]
Ancestor NO
Defining mutations M231
Highest frequencies Yakuts 75%, Nenets 75%, Finns 60%, Baltic States 45% (McDonald 2005), Saami 40%

Haplogroup N (M231) is a Y-chromosome DNA haplogroup typical of Northern Eurasia, which is defined by the presence of the marker M231.[Phylogenetics 1]

Origins

Estimated prehistoric migration routes for Y-chromosome haplogroup N lineage.[5]

Haplogroup N-M231 is a descendant haplogroup of Haplogroup NO1-M214 . Its most recent common ancestor with its nearest outgroup, haplogroup O-M175, is estimated to have lived about 36,800[1] or 41,900[2] years ago. However, extant haplogroup N-M231 is considered to be relatively young, having populated the north of Eurasia after the last Ice Age. Males carrying the marker apparently moved northwards as the climate warmed in the Holocene.

It is suggested that N-M231 arose in Southeast Asia 19.4±4.8 ky years ago, and then migrated in a counter-clockwise path from modern day regions of Mongolia and northern China to as far as northeastern Europe (Rootsi 2006).

The absence of haplogroup N-M231 in the Americas indicates that its spread across Asia happened after the submergence of Beringia (Chiaroni 2009).

Distribution

Projected distributions of haplogroup N sub-haplogroups.[5] (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 Southeast Asia, the Pacific, Southwest Asia and Southern Europe.

Its highest frequency occurs among the Finnic and Baltic peoples of northern Europe, the Ob-Ugric and Northern Samoyedic peoples of western Siberia, and the Siberian Turkic-speaking Yakuts (McDonald 2005).

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*.[3] (A "Haplogroup N2" has also been mooted, defined by F3373, M2283, Page56, and/or S323.)

N-M231* has been found at low levels in China and Cambodia.[3] Out of a sample of 165 Han males from China, two individuals (1.2%) were found to belong to N*.(Karafet 2010).[Footnote 1] One originated from Guangdong and one from Shaanxi.

N1 (CTS11499/L735/M2291)

Haplogroup N1
Possible place of origin Asia
Ancestor N* (M231)
Defining mutations CTS11499/L735/M2291 (previously LLY22g)

In 2014, LLY22g was retired as a defining SNP for Haplogroup N1; it was replaced by CTS11499/L735/M2291. According to ISOGG, LLY22g is problematic because it is a "palindromic marker and can easily be misinterpreted".[3] Consequently, the position of many previously examples of "N-LLY22g", within N-M231 has become unclear.

N1* has been reported to reach a frequency of up to 30% (13/43) among the Yi people of Butuo County, Sichuan in Southwest China (Hammer 2005, Karafet 2001, and Wen2004b). Paragroup N-LLY22g* also has been found in samples of Han Chinese, but with widely varying frequency:

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

N1(xN1a, N1c) was found in ancient bones of Liao civilization[6]:

N1c1 (M46)

The mutations that define the subclade N-M46[Phylogenetics 2] are M46/Tat and P105. This is the most frequent subclade of N. It arose probably in the region of present-day China, and subsequently experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe (Rootsi 2006). 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 absent or present with much lower frequency among many of the Yakuts' neighbors, such as Evenks and Evens.[7] It also has been detected in 5.9% (3/51) of a sample of Hmong Daw from Laos (Cai 2011), 2.4% (2/85) of a sample from Seoul, South Korea (Katoh 2004), and in 1.4% (1/70) of a sample from Tokushima, Japan (Hammer 2005).

The haplogroup N-M46 has a low diversity among Yakuts suggestive of a population bottleneck or founder effect ( & Pakendorf 2002). 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 (Crubézy 2010).

N1c1a (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 (Derenko 2007 and Lappalainen 2008).

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 (approximately 10,000 years ago on their calculated by the Zhivotovsky method) and spread into Northern Europe where its age they calculated as around 8,000 years ago. Meanwhile, the younger subcluster, which they labelled N3a2, originated in south Siberia (probably in the Baikal region) approximately 4,000 years ago (Derenko 2007).

N1c2a-M128

Haplogroup N-M128
Possible place of origin Asia
Ancestor N1c2 (F1008/L666)
Defining mutations M128

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.[8] Subsequently, it has been found with low frequency in some samples of the Manchu people, Sibe people, Evenks, Koreans, northern Han Chinese, Bouyei people, and some Turkic peoples of Central Asia.

A number of 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*.[9]

N1c2b (P43)

Haplogroup N-P43[Phylogenetics 5] is defined by the presence of the marker P43. It is a significantly younger subclade, perhaps only 6,000 to 8,000 years old, with a probable origin in Siberia (Derenko 2007). It is found frequently among Northern Samoyedic peoples; also found at low to moderate frequency among some other Uralic peoples, Turkic peoples, Mongolic peoples, Tungusic peoples, and Siberian Yupik people.

Haplogroup N-P43 forms two distinctive subclusters of STR haplotypes, Asian and European, the latter mostly distributed among Uralic-speaking peoples and related populations (Rootsi 2006).

Phylogenetics

Phylogenetic history

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 2006 ISOGG 2007 ISOGG 2008 ISOGG 2009 ISOGG 2010 ISOGG 2011 ISOGG 2012
N-LLY22g12VIII1U25Eu16H5FN*NN1N1-------
N-M12812VIII1U25Eu16H5FN1N1N1aN1a-------
N-P6312VIII1U25Eu16H5FN2N2aN1b1N1b1-------
N-TAT12VIII1I26Eu13H5FN3*N3N1cN1c-------
N-M17816VIII1I26Eu14H5FN3a*M178N1c1N1c1-------
N-P2116VIII1I26Eu14H5FN3a1N3a1N1c1aN1c1a-------

Original research publications

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

Associated mutations (SNPs and UEPs)

B1/B3 The b2/b3 deletion in the AZFc region of the Y-chromosome. This deletion 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).

Tree

In the following tree the nomenclature of 3 sources is separated by slashes: ISOGG (2016)/Ilumae et al. (2016)/Kang Hu et al. (2015).

Genetics

Y-DNA N subclades

  • N-M231

Y-DNA backbone tree

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1 [χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1  F2  F3  GHIJK
G HIJK
IJK H
IJ   K
I J     LT [χ 5]  K2
L     T [χ 6] K2a [χ 7] K2b [χ 8]   K2c   K2d  K2e [χ 9]  
K2a1                    K2b1 [χ 10]    P [χ 11]
NO    S [χ 12]  M [χ 13]    P1     P2
NO1    Q   R
N O
  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. PMID 24166809. doi:10.1002/humu.22468.
  2. ↑ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ↑ Haplogroup A0-T is also known as A0'1'2'3'4.
  4. ↑ Haplogroup A1 is also known as A1'2'3'4.
  5. ↑ Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. ↑ Between 2002 and 2008, Haplogroup T (M184) was known as "Haplogroup K2" – that name has since been re-assigned to K-M526, the sibling of Haplogroup LT.
  7. ↑ Haplogroup K2a (M2308) and the new subclade K2a1 (M2313) were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: Poznik GD, Xue Y, Mendez FL, et al. (2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–9. PMC 4884158 Freely accessible. PMID 27111036. doi:10.1038/ng.3559. In the past, other haplogroups, including NO1 (M214) and K2e had also been identified with the name "K2a".
  8. ↑ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  9. ↑ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
  10. ↑ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
  11. ↑ Haplogroup P (P295) is also klnown as K2b2.
  12. ↑ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
  13. ↑ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

References

Footnotes

  1. ↑ In Karafet 2010

Work cited

  1. 1 2 3 YFull Haplogroup YTree v5.04 at 16 May 2017
  2. 1 2 3 Monika Karmin, Lauri Saag, Mário Vicente, et al., "A recent bottleneck of Y chromosome diversity coincides with a global change in culture." Genome Research (2015) 25: 459-466. doi: 10.1101/gr.186684.114
  3. 1 2 3 4 ISOGG, 2016, Y-DNA Haplogroup N and its Subclades - 2016 22 August 2016).
  4. ↑ (Rootsi 2006)
  5. 1 2 3 Shi, H; Qi, X; Zhong, H; Peng, Y; Zhang, X; et al. (2013). "Genetic Evidence of an East Asian Origin and Paleolithic Northward Migration of Y-chromosome Haplogroup N". PLoS ONE. 8 (6): e66102. Bibcode:2013PLoSO...866102S. PMC 3688714 Freely accessible. PMID 23840409. doi:10.1371/journal.pone.0066102.
  6. ↑ Yinqiu Cui, Hongjie Li, Chao Ning, Ye Zhang, Lu Chen, Xin Zhao, Erika Hagelberg and Hui Zhou (2013）"Y Chromosome analysis of prehistoric human populations in the West Liao River Valley, Northeast China. " BMC 13:216
  7. ↑ Duggan, AT; Whitten, M; Wiebe, V; Crawford, M; Butthof, A; et al. (2013). "Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers". PLoS ONE. 8 (12): e83570. doi:10.1371/journal.pone.0083570.
  8. ↑ Peter A. Underhill, Peidong Shen, Alice A. Lin et al., "Y chromosome sequence variation and the history of human populations," Nature Genetics • Volume 26 • November 2000
  9. ↑ Kang Hu (2015)

Journals

Websites

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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