Haplogroup Q-M242

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Haplogroup Q
Haplogroup Q (Y-DNA).PNG
Possible time of origin 17,000 to 22,000 years ago[1][2](In another source, 31,400YBP)[3]
Possible place of origin Central Asia,[4][5] Siberia[6]
Ancestor P
Descendants Q-P36.2 (P36.2)
Defining mutations M242
Highest frequencies Kets, Inuit, Selkups, and the indigenous peoples of the Americas

Haplogroup Q-M242 is a Y-chromosome DNA haplogroup.

Origins[edit]

Haplogroup Q-M242 is one of the two branches of haplogroup P-M45. Haplogroup Q-M242 is believed to have arisen in North Asia approximately 17,000 to 22,000 years ago.[7] (In another source, 31,400YBP)[3] It has had multiple origins proposed. Much of the conflict may be attributed to limited sample sizes and early definitions that used a combination of the M242, P36.2, and MEH2 SNPs as defining mutations.

This haplogroup has many diverse haplotypes. There also are over a dozen subclades that have been sampled and identified in modern populations.

Technical specification of mutation[edit]

The technical details of M242 are:

Nucleotide change: C to T
Position (base pair): 180
Total size (base pairs): 366
Forward 5′→ 3′: aactcttgataaaccgtgctg
Reverse 5′→ 3′: tccaatctcaattcatgcctc

Subclades[edit]

In Y-chromosome phylogenetics, subclades are the branches of haplogroups. These subclades are also defined by single nucleotide polymorphisms (SNPs) or unique event polymorphisms (UEPs). Haplogroup Q-M242, according to the most recent available phylogenetics has between 15 and 21 subclades. The scientific understanding of these subclades has changed rapidly. Many key SNPs and corresponding subclades were unknown to researchers at the time of publication are excluded from even recent research. This makes understanding the meaning of individual migration paths challenging.

Phylogenetic trees[edit]

There are several confirmed and proposed phylogenetic trees available for haplogroup Q-M242. The scientifically accepted one is the Y-Chromosome Consortium (YCC) one published in Karafet 2008 and subsequently updated. A draft tree that shows emerging science is provided by Thomas Krahn at the Genomic Research Center in Houston, Texas. The International Society of Genetic Genealogy (ISOGG) also provides an amateur tree.

The Genomic Research Center Draft tree[edit]

This is Thomas Krahn at the Genomic Research Center's Draft tree Proposed Tree for haplogroup Q-M242. The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.[8]

  • P
    • Q-M242 M242
      • P36.2, L232, L273.1, L274.1

The Y-Chromosome Consortium tree[edit]

This is the official scientific tree produced by the Y-Chromosome Consortium (YCC). The last major update was in 2008.[7] Subsequent updates have been quarterly and biannual. The current version is a revision of the 2010 update.[9] The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.

  • P-M45
    • Q-M242 M242
      • Q-P36.2 P36.2
        • Q-MEH2 MEH2 (Q1a)
            • Q-M120 M120, N14, M265 (Q1a1a1)
            • Q-M25 M25, M143 (Q1a1b)
          • Q-M346 L56, L57, M346 (Q1a2)
            • Q-P89.1 P89.1 (Unknown one singleton probably part of Q1a2)
        • Q-L275 L275 (Q1b)
          • Q-M378 L214, L215, M378 (Q1b1)

The 2011 ISOGG tree[edit]

The subclades of Haplogroup Q-M242 with their defining mutation(s), according to the 2011 ISOGG tree are provided below. The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.

  • Q M242
    • Q-P36.2 P36.2, L232, L273, L274
      • Q-MEH2 MEH2
        • Q-M120 M120, M265/N14
        • Q-M25 M25, M143
        • Q-M346 L56, L57, M346, L528
      • Q-L275 L275, L314
        • Q-M378 M378/Page100, L214, L215/Page82

Phylogenetic variants[edit]

The subclade proposed by Sharma 2007 (SS4bp, rs41352448) is not represented in any current trees because it is a value for the STR DYS435 with a value of 8--> 9 [5] with in haplogroup Q M242 and the trend is to include only binary markers in phylogenetic trees. However, interestingly analysis of STR based haplotypes from Sharma 2007 indicates that the DYS435=9 variant, using online haplogroup prediction tool (like http://www.hprg.com), did not indicate an earlier established sub clade of Y-haplogroup Q.

Distribution[edit]

Haplogroup Q-M242 may be one of the most widely distributed Y-chromosome lineages in the modern world. It is found in the Americas, North Africa, East Asia, South Asia, West Asia, and in Europe.

The Americas[edit]

Further information: Indigenous Amerindian genetics and Y-DNA haplogroups in Indigenous peoples of the Americas

Several branches of haplogroup Q-M242 are part of the pre-Columbian male lineages in the predominant Y-chromosome haplogroup in indigenous peoples of the Americas. They were part of groups who migrated from Asia into the Americas by crossing the Bering Strait.[2] These small groups had few founders, but they must have included men from the Q-M346, Q-L54, Q-Z780, and Q-M3 lineages. In Canada, two other lineages have been found. These are Q-P89.1 and Q-NWT01. They may not be from the Beringia Crossings but instead come from later immigrants who traveled along the shoreline of East Asia and then the Americas using boats.

It is unclear whether the current frequency of Q-M242 lineages represents their frequency at the time of immigration or is the result of shifts in a small founder population over time. However, Q-M242 came to dominate the paternal lineages in the Americas. Indeed, haplogroup Q-M242 has been found in approximately 94% of Indigenous peoples of South America[10] and detected in Na-Dené speakers at a rate of 25-50%, and North American Eskimo–Aleut populations at about 46%.[11]

However, a 4000-year-old Saqqaq individual belonging to Q-MEH2 haplogroup has been documented.[12]

Asia[edit]

Q-M242 originated in Asia, and is widely distributed there.[2] It has been reported that Q-M242 is found in the Altai people,[13] India,[14] Tibet,[15] Pakistan,[14] China,[16][17] Vietnam,[18] Mongolia,[19] Tuvans,[20] and Uyghurs.[19] It was found in 9 out of 49 specimens (18%) in a Y-Haplogroup study of Pashtuns in Kabul the Capital of Afghanistan.[21]

North Asia[edit]

To the east, haplogroup Q-M242 has been found in approximately 4% of Southern Altaians and 32% of Northern Altaians.[13] It is found in 16% of Tuvans.[20]

The highest frequencies of Q-M242 in Asia are found among the Selkups (~70%) and Kets (~95%), they live in western and middle Siberia and their populations are small in number, being just under 5,000 and 1,500, respectively.

Q-M346 is found among the Khanty.[22]

East Asia[edit]

The frequency of Q-M242 in northern China is about 4%, with many Chinese samples of haplogroup Q-M242 belonging to the subclade Q1a1-M120.[16][17] In a study published in 2011, researchers have reported finding haplogroup Q-M242 in 3.3% (12/361) of a sample of unrelated Han Chinese male volunteers at Fudan University in Shanghai with origins that can be traced back from all over China, though with a majority coming from East China.[23] Haplogroup Q-M242 is found in approximately 3% of males in Tibet[15] and Mongolia.[19](Most of them are Q1a2-L330) It is also found in 3% of Uyghurs.[19] It is also found in 1.5~2.0% of Koreans (Almost all of them are in Q1a1-M120).[24] Suclade Q1b-M378 exists throughout all Mongolia with examples in Japan.[25](very rare)

South Asia[edit]

Some examples of Q-M242 (negative for tested subclades) have been reported in the Indian subcontinent in low frequency.[5] The same studies have found Q-M346* (negative for known subclades) restricted to the Indian subcontinent. The most plausible explanation for these observations could be an ancestral migration of individuals bearing ancestral lineage Q-M242 to the Indian subcontinent followed by an autochthonous differentiation to Q-M346. However, these are from studies where all current branches of the Q-M242 tree have not been tested.

The problematic phylogeny sampling of early studies has been demonstrated by subsequent studies that have found Q-M346, Q-M378, and Q-M25 in South Asia.

Southeast Asia[edit]

Haplogroup Q shows very low frequency in Southeast Asia.

Southwest Asia[edit]

Two studies conducted Ivan Nasidze in 2004 and 2009, show that the frequency of Q-M242 in Iran, varies between approximately 2% to 6%, depending on region. Iranian samples of haplogroup Q-M242 belong primarily to the subclade Q-M25.[26]

In Pakistan, at the eastern end of the Iranian plateau, the frequency of haplogroup Q-M242 is about 2.2% (14/638)[27] or 3.4% (6/176).[28]

Approximately 2.5% of males in Saudi Arabia belong to haplogroup Q.[29]

According to Behar et al. 5% of Ashkenazi males belong to haplogroup Q.[30] This has subsequently been found to be entirely the Q-M378 subclade and may be restricted to Q-L245.

Haplogroup Q-M242 has also been found in Algerians, Arabians, Syrians, Lebanese[31] and the United Arab Emirates.,[32]

Approximately 2% of males in Turkey belong to haplogroup Q.[33] In a study by Gokcumen it was found that among Turks that belong to the Afshar tribe haplogroup Q-M242 is seen with a prevalence of 13%.[34] Further, the Q-M25 subclade has been found in Turkey[33]

Europe[edit]

The frequency of haplogroup Q-M242 in Norway and Sweden is about 3%. It is believed that almost all of these are either Q-L527 or Q-L804. Around 2.5% of Slovak males are in haplogroup Q-M242 and Sicily 2.54%.

Subclade distribution[edit]

aDNA[edit]

The 12,6 thousand year old Clovis culture individual on the territory of Montana belonged to Q-L54*(xM3).[48][49]

Over the past decade, Chinese archaeologists have published several reviews regarding the results of excavations in Xinjiang. They imply the Xiongnu's supreme ruling class. Particularly interesting are in the cemetery Heigouliang, Xinjiang (Black Gouliang cemetery, also known as the summer palace of Xiongnu king), east of Barkol basin, near the city of Hami. By typing results of DNA samples during the excavation of one of the tombs it was determined that of the 12 men there were: Q1a*(xQ-M120, xQ-M25, xQ-M3) - 6, Q1b(1) (M378) - 4, Q*(xQ1a, xQ1b)-2 (unable to determine subclade). All Y-haplogroup Q1b(1)- M378 are hosts of the tombs, while half of Y-DNA Q1a* represents hosts and half sacrificial victims. They date from the time of early (Western) Han (2nd-1st Century BC).[50] In another study, 3 in this place are identified as Q-M3. Summarizing the data from available evidences, it is concluded that the tomb belongs to the representatives of the Xiongnu/Hunnu aristocracy.[51][52]

Y-Haplogroup Q in Ancient sites[edit]

- Atai(South Siberia)

  • Afontova-Gora2, Yenisei River Bank, Krasnoyarsk (Altai, South Siberia of Russia), 17000YBP: Q1a1-F1215(mtDNA R)[53]

- North America

  • Anzick-1, Clovis culture, western Montana, 12600YBP: Q1a2-L54*(not M3, mtDNA D4h3a)[54]
  • Kennewick Man, Washington State, 8500YBP: Q1a2-M3(mtDNA X2a)[55]

- Greenland

  • Saqqaq, Greenland, 4000YBP: Q1a-MEH2(mtDNA D2a1)[56]

- Altai(West Mongol)

  • Tsagaan Asga & Takhilgat Uzuur-5 Kurgan sites, Westernmost Mongol Altai, 2900YBP-4800YBP: 4 R1a1a1b2-Z93(B.C. 10C, B.C. 14C, 2 period unknown), 3 Q1a2a1-L54(period unknown), 1 Q-M242(B.C. 28C), 1 C-M130(B.C. 10C)[57]

- China

  • Hengbei site (Peng kingdom cemetery of Western Zhou Dynasty), Jiang County, Shanxi, 2800-3000YBP: 9 Q1a1-M120, 2 O2a-M95, 1 N, 4 O3a2-P201, 2 O3, 4 O*[58]
    • In another paper, the social status of those human remains of ancient Peng kingdom are analyzed. aristocrats: 3 Q1a1(prostrate 2, supine 1), 2 O3a(supine 2), 1 N(prostrate) / commoners : 8 Q1a1(prostrate 4, supine 4), 3 O3a(prostrate 1, supine 2), 3 O*(supine 3) / slaves: 3 O3a, 2 O2a, 1 O*[59]
    • (cf)Pengbo(倗伯), Monarch of Peng Kingdom is estimated as Q-M120.
  • Pengyang, Ningxia, 2500YBP: all 4 Q1a1-M120[58](with a lot of animal bones and bronze swords & other weapons, etc.)
  • Heigouliang, Xinjiang, 2000YBP: 6 Q1a*(not Q1a1-M120, not Q1a1b-M25, not Q1a2-M3), 4 Q1b, 2 Q*(not Q1a, not Q1b)[60]
  • Hunnu (Xiongnu) site in Barkol, Xinjiang, all 3 Q-M3[61]
  • Mongolian noble burials in the Yuan Dynasty, Shuzhuanglou Site, northernmost Hebei China, 700YBP: all 3 Q(not analysed subclade, the principal occupant Gaodangwang Korguz(高唐王=趙王 阔里吉思)’s mtDNA=D4m2, two others mtDNA=A)[62] (cf) Korguz: the son of a princess of Kublai Khan(元世祖), the King of Ongud tribe, a descendant of Gok-Truk. Ongud tribe(汪古部) is a descendant of Shatou tribe(沙陀族) which was a tribe of Gok-Turk and was prominent in the Five Dynasties and Ten Kingdoms period of China. His two wives were all princesses of Yuan Dynasty. It was very important for Yuan Dynasty to maintain marriage alliance with Ongud tribe which had been very important assistant since Genghis Kahn. About 16 princesses of Yuan Dynasty married kings of Ongud tribe.

See also[edit]

Populations[edit]

Genetics[edit]

Y-DNA Q-M242 subclades[edit]

Y-DNA backbone tree[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups [n 1] [n 2]
"Y-chromosomal Adam"
A00 A0-T [n 3]
A0 A1[n 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1 F2 F3 GHIJK
G HIJK
H IJK
IJ K
I J LT [n 5]  K2
L T NO [n 6] K2b [n 7]   K2c K2d K2e [n 8]
N O K2b1 [n 9]    P
M S Q R
  1. ^ Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809. 
  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. ^ Haplogroup NO (M214) is also known as Haplogroup K2a (although the present K2e was also previously known as "K2a").
  7. ^ Haplogroup K2b (M1221/P331/PF5911) was previously known as Haplogroup MPS.
  8. ^ Haplogroup K2e (K-M147) was previously known as K2a and "Haplogroup X".
  9. ^ Haplogroup K2b1 (P397/P399) has a complex internal structure, which is broader than the former Haplogroup MS.

External links[edit]

References[edit]

Citations[edit]

  1. ^ Fagundes, Nelson J. R.; Kanitz, Ricardo; Eckert, Roberta; Valls, Ana C. S.; Bogo, Mauricio R.; Salzano, Francisco M.; Smith, David Glenn; Silva, Wilson A.; Zago, Marco A.; Ribeiro-Dos-Santos, Andrea K.; Santos, Sidney E. B.; Petzl-Erler, Maria Luiza; Bonatto, Sandro L. (2008). "Mitochondrial Population Genomics Supports a Single Pre-Clovis Origin with a Coastal Route for the Peopling of the Americas" (pdf). American Journal of Human Genetics 82 (3): 583–592. doi:10.1016/j.ajhg.2007.11.013. PMC 2427228. PMID 18313026. Retrieved 2009-11-19. Since the first studies, it has been found that extant Native American populations exhibit almost exclusively five "mtDNA haplogroups" (A–D and X)6 classified in the autochthonous haplogroups A2, B2, C1, D1, and X2a.7 Haplogroups A–D are found all over the New World and are frequent in Asia, supporting a northeastern Asian origin of these lineages 
  2. ^ a b c Zegura, S. L.; Karafet, TM; Zhivotovsky, LA; Hammer, MF (2003). "High-Resolution SNPs and Microsatellite Haplotypes Point to a Single, Recent Entry of Native American Y Chromosomes into the Americas" (PDF). Molecular Biology and Evolution 21 (1): 164–75. doi:10.1093/molbev/msh009. PMID 14595095.  Cite error: Invalid <ref> tag; name "Zegura" defined multiple times with different content (see the help page).
  3. ^ a b YFull-Experimental YTree v3.12
  4. ^ Y-DNA Haplogroup Q and its Subclades - 2010
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  6. ^ a b "Learn about Y-DNA Haplogroup Q". Wendy Tymchuk - Senior Technical Editor. Genebase Systems. 2008. Retrieved 2009-11-21. Haplogroup Q, possibly the youngest of the 20 Y-chromosome haplogroups, originated with the SNP mutation M242 in a man from Haplogroup P that likely lived in Siberia approximately 15,000 to 20,000 years before present  Cite error: Invalid <ref> tag; name "Genebase" defined multiple times with different content (see the help page).
  7. ^ a b Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274. 
  8. ^ Krahn, Thomas. "FTDNA Draft Y-DNA Tree (AKA YTree)". Family Tree DNA. Retrieved 2012. 
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  13. ^ a b Kharkov, V. N.; Stepanov, V. A.; Medvedeva, O. F.; Spiridonova, M. G.; Voevoda, M. I.; Tadinova, V. N.; Puzyrev, V. P. (2007). "Gene Pool Differences between Northern and Southern Altaians Inferred from the Data on Y-Chromosomal Haplogroups". Genetika 43 (5): 675–687. 
  14. ^ a b c The Y Chromosome Consortium 2008
  15. ^ a b c d Gayden T, Cadenas AM, Regueiro M, et al. (May 2007). "The Himalayas as a Directional Barrier to Gene Flow". Am. J. Hum. Genet. 80 (5): 884–94. doi:10.1086/516757. PMC 1852741. PMID 17436243. 
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  19. ^ a b c d Hammer, Michael F.; Karafet, Tatiana M.; Park, Hwayong; Omoto, Keiichi; Harihara, Shinji; Stoneking, Mark; Horai, Satoshi (2005). "Dual origins of the Japanese: Common ground for hunter-gatherer and farmer Y chromosomes". Journal of Human Genetics 51 (1): 47–58. doi:10.1007/s10038-005-0322-0. PMID 16328082. 
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Bibliography[edit]

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