Haplogroup Q-M242

Haplogroup Q
Possible time of origin 17,000 to 22,000 years ago[1][2](In another data, 31,700YBP)[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

Haplogroup Q-M242 is one of the two branches of haplogroup P-M45. Haplogroup Q-M242 is believed to have arisen around the Altai Mountains area(or South Central Siberia),[2] approximately 17,000 to 22,000 years ago.[7] (In another source, 31,700YBP)[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 over a dozen subclades that have been sampled and identified in modern populations. Also, there are very diverse sub-haplotypes.

Technical specification of mutation

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

In Y-chromosome phylogenetics, subclades are the branches of a haplogroup. 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

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

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]

The Y-Chromosome Consortium tree

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.

The 2015 ISOGG tree

The subclades of Haplogroup Q-M242 with their defining mutation(s), according to the 2015 ISOGG tree are provided below. The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.

Phylogenetic variants

The subclade(under Q-MEH2) proposed by Sharma 2007, which shows polymorphism(ss4bp, rs41352448) at 72,314 position of human arylsulfatase D psuedogene, is not represented in any current trees under Q-MEH2.[10] The most plausible explanation for this could be an ancestral migration of individuals bearing Q-MEH2 to the Indian subcontinent followed by an autochthonous differentiation to Q-ss4bp.[5]

Distribution

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

Americas

Several branches of haplogroup Q-M242 have been predominant pre-Columbian male lineages in indigenous peoples of the Americas. Most of them are decendents of the major founding groups who migrated from Asia into the Americas by crossing the Bering Strait.[2] These small groups of founders must have included men from the Q-M346, Q-L54, Q-Z780, and Q-M3 lineages. In the North America, two other Q-lineages also have been found. These are Q-P89.1(under Q-MEH2) and Q-NWT01. They may have not been from the Beringia Crossings but instead come from later immigrants who traveled along the shoreline of Far 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 the shifts in a small founder population over time. Anyway, Q-M242 came to dominate the paternal lineages in the Americas.

North America

In the indigenous people of the North America, Q-M242 is found in Na-Dené speakers at an average rate of 68%. The highest frequency is 92.3% in Navajo, followed by 78.1% in Apache,[2] 87%[2] in SC Apache,[11] and about 80% in North American Eskimo–Aleut populations.(Q-M3 occupies 46% among Q in North America)[12]

On the other hand, a 4000-year-old Saqqaq individual belonging to Q1a-MEH2* has been found in Greenland. Surprisingly, he was turned out to be generically more closely related to Far East Siberians such as Koryaks and Chukchi people rather than native Americans.[13] Today, the frequency of Q runs at 53.7%(122/227: 70 Q-NWT01, 52 Q-M3) in Greenland, showing the highest in East Sermersooq at 82% and the lowest in Qeqqata at 30%.[14]

Q-M242 is estimated to occupy 3.1% of the whole US polulation in 2010 : According to the US National Population Census data(2010),[15] the frequency of White people(xHispaic) is 63.7%, followed by Hispanic 16.3%, Black 12.6%, Asian 4.8%, Native American(Mainland+Alaska, not including the Pacific islands) 0.9%, etc. And haplogroup Q frequencies in each population sectors are Q-P36* 0.6% & Q-M3 0.1% in White American, Q-P36* 3.8% & Q-M3 7.9% in Hispanic American, Q-P36*(xM3) 0.2% in African American, Q-P36* 31.2% & Q-M3 26.9% in Native American.[16] So, recalculated by the population weights of each sector, the frequency of Q-M242 in the US reaches 3.1% as of 2010.(This figure will rise up, as Hispanic population in the US increases.)

Meso and South America

Haplogroup Q-M242 has been found in approximately 94% of Indigenous peoples of Mesoamerica and South America.[17]

Today, in Mesoamerica and South America, the frequencies of Q-M242(mostly M3) in the whole male population of each country run by far higher than in the North. The frequency of Q reaches 61% in Bolivia.[18] It is about 51% in Guatemala,[19] 40.1%(159/397)[20]~50% in Peru, 37.6% in Ecuador,[21] 37.3%(181/485) in Mexico[20] and 30.8%(203/659) in Mexican-Mestizos,[22] 31.2%(50/160) in El Salvador,[23] 15.3%(37/242)~21.8%(89/408) in Panama,[20][24] 16.1% in Colombia,[25] 15.2%(25/165) in Nicaragua,[26] 9.7%(20/206) in Chile,[20] 5.3%(13/246 : 8 provinces in Northeastern, Central, Southern regions)[27]~23.4%(181/775 : 8 provinces in central-west, central, northwest regions)[28] of Argentina, 5% in Costa Rica,[29] 3.95% in Brazil,[30] and so on.

Upon these data, the average frequency in the whole population of Meso & South America is estimated to be about 18%.

Asia

Q-M242 originated in Asia(Altai regions), and is widely distributed across it. [2] Q-M242 is found in Russia Siberia(Altai people,[31] Tuvans,[32] Kets, Selkups, Koryaks, etc.) Mongolia,[33] China,[34][35] Uyghurs,[33] Tibet,[36] Korea, Japan, Vietnam,[37] India,[38] Pakistan,[38] Afganistan, Iran, Iraq, Saudi Arabia, Turkmenistan, Uzbekistan, and so on.(For details, see below.)

North Asia

In Siberia, the regions between Altai and Lake Baikal, which are famous for many prehistoric cultures and as the most likely birthplace of haplogroup Q, exhibit high frequencies of Q-M242. In a study(Dulik2012),[39] Q-M242(mostly Q-M346 including some Q-M3) has been found in 24.3%(46/189 : 45 Q-M346, 1 Q-M25) of all Altaian samples. Among them, Chelkans show the highest frequency at 60.0%(15/25 : all Q-M346), followed by Tubalars at 41%(11/27 : 1 Q-M25, 10 Q-M346) and Altaians-Kizhi at 17%(20/120). In a former study, Q-M242 is found in 4.2% of Southern Altaians and 32.0% of Northern Altaians with the highest frequency of 63.6% in Kurmach-Baigol(Baygol). The frequency reaches 13.7%(20/146) in the whole samples.[31] In another study,[40] the frequency rises up to 25.8%(23/89 : all Q-M346) in Altaians. Upon the results of these studies, the average frequency of Q-M242 in Altaians is about 21%.

Tuva, which is located on the east side of Altai Republic and west of Lake Baikal as well as on the north side of Mongol, shows higher frequency of Q-M242. It is found in 16%[32]~38.0%(41/108)[40] of Tuvans. Also, Todjins in eastern Tuva Republic shows the frequency of 38.5%(10/26, all Q-M346).[40] So, the average frequency of Q-M242 in Tuva is about 31%.

The highest frequencies of Q-M242 in Eurasia are witnessed in Kets(central Siberia) at 93.8%(45/48) and in Selkups(north Siberia) at 66.4%(87/131).[41] Russian ethnographers believe that their ancient places were farther south, in the area of the Altai and Sayan Mountains.[2](Altai-Sayan region) Their populations are currently small in number, being just under 1,500 and 5,000 respectively. However, in linguistic anthropology, Ket is very important in that the ancient Xiongnu( and the Hun) are believed to speak such a Yeniseian language as the Ket one.(cf. L. Lieti, E. Pulleybank, A. Vovin, etc.) Q-M346 is also found at lower rates in Sojots(7.1%, Q-M346), Khakassians(6.3%, Q-M346), Kalmyks(3.4%, Q-M25, Q-M346)[40] and Khanty,[42] and so on.

In Far East Siberia, Q-M242 is found in 35.3% of Nivkhs(Gilyaks) in Lower Amur River, and 33.3% of Chukchi people and 39.2% of Siberian Eskimos in Chukotka(Chukchi Peninsula).[43] It is found in 30.8% of Yukaghirs who live in the basin of the Kolyma River, which is located northwest of Kamchatka.[32] It is also found in 15%(Q1a* 9%, Q-M3 6%) of Koryaks in Kamchatka.[44]

East Asia

In some studies, various subgroups of Q-M242 are observed in Mongolia. Q1a2-M346(mostly Q-L330) occupies 1.4[20]~3.1%[44] of Mongol people(1/2~2/3 among Q samples), followed by Q1a1a1-M120(0.25[20]~1.25%[44]), Q1a1b-M25(0.25[20]~0.63%[44]), Q1b-M378. In another study, Q is found in 4% of Mongol people.[17] Upon these studies, the average frequency of Q-M242 in Mongol is estimated to be about 4~5%.

However, most of Q-M242 people in East Asia belong to subclade Q-M120, which distributes most intensively across northern China. Q-M242 ranged from 4~8% in northwest China(Xinjiang, Gansu, Shaanxi), north China(Shanxi, Hebei), central China(Henan, Hubei), and upper east China(Anhui, Shandong, Jiangsu) to 3~4% in northeast China(Manchuria). The average frequency of Q-M242 in northern China is around 4.5%. But, it decreases to about 2% in southern China.[34][35] In a study published in 2011, researchers have found Q-M242 in 3.3% (12/361) of the samples of unrelated Han-Chinese male volunteers at Fudan University in Shanghai with the origins from all over China, though with the majority coming from East China.[45]

Q-M242 is found in about 9.5% of Uyghurs,[46] with Q-M346 occupying the half and followed by Q1*, Q-M120, Q-M346, Q-M25. It is also found in approximately 3.2%(5/156 : 2 Q-M120, 3 Q-M346) of males in Tibet.[36]

It is found in about 1.9% of South Koreans,[47][48][49] showing the highest frequency in Seoul&Gyeonggi Province at 2.7% and decreasing ones to the south(Kim 2010). It is about in 0.5% of Japanese [50] and in 0.3%[51]~1.2%[52] of Taiwanese.

Subclade Q1b-M378 is also found in China and its neighboring countries at very low frequencies. It exists throughout all Mongolia, with rare examples in Japan.[53]

Southeast Asia

Haplogroup Q shows low frequencies in Southeast Asia. In a study,[54] the frequencies of haplogroup Q is 5.4%(2/37) in Indonesia, 3.1%(2/64) in Philippines, 2.5%(1/40) in Thailand. But, other studies show 0% or near 0% frequencies in those countries.[51] In case of Vietnam, the frequency is 7% in a study,[55] but 0% or under 1% in other studies.[51][54] So, it is hard to define average friquencies. But, it is safer to say that southeast Asia generally shows very low frequency(about 0.5%~1%) of Q-M242, and Mainland regions show higher frequencies than Island ones.

Only some regions and ethnic groups in the Mainland show high frequencies. Q-M242 is found in 2.8%(3/106, all Q-M346) in Myanmar, and all the Q samples are concentrated in Ayeyarwady(2/11) and Bago(1/14) regions in southwest Myanmar.[56] And, Q-M242 is found in 55.6%(15/27) in the Akha tribe in northern Thailand.[51] The Akha are known to have moved from southern China(east Tibet and Yunnan) to Southeast Asia over the past centuries, and to have originated from a northern area such as Mongolia or Manchuria long time ago.[57]

Central Asia

In central Asia, the southern regions show higher frequencies of Q than the northern ones. In the northern regions, Q-M242 is found in about 2%[58]~6%[59][60](average 4%) of Kazakhs. It is found in about 2% of Kyrgyz people.[44][59][60]

In the southern regions, Q-M242 is found in 5%[61]~6%[59][60] of Tajiks(Tajikistan), and in about 8.3% of Uzbeks[44][62] In case of Turkmenistan, the frequency is not clear, but it can reach about 40% in light of the frequencies(34%~43%) in Turkmens of Afganistan and Iran who live in the areas adjacent to Turkmenistan.

Southwest Asia

Southwest Asia exhibits high frequencies of Q in northern Iran, and gradually lowering ones to the southwest.

Q-M242 accounts for 5.5%(52/938) in Iran according to Grugni 2012, which shows a large and well allocated sampling. The Q samples(52) in the study consist of various subclades such as Q*(3), Q-M120(1), Q-M25(30), Q-M346(8), Q-M378(10). The highest frequency is at 42.6%(29/68, all Q-M25) in Turkmens of Golestan, followed by 9.1% in Isfahan, 6.8% in Khorasan, 6% in Lorestan(Luristan), 4.9% in Azarbaijan Gharbi, 4.5% in Fars, and so on.[63] Turkmens are known as the descendants of Oghuz Turks who built many Turkic empires and dynasties. Other studies also show similar frequencies.[64][65][66]

In a study(Zahery 2011), the frequency of Q is 1.9%(3/154: all Q-M378) in Iraqis(x Marsh Arabs), and 2.8%(4/143: 1 Q-M25, 3 Q-M378) in Marsh Arabs who are known as the descendants of ancient Sumerians.[67]

Approximately 2.5%(4/157: 3 Q*, 1 Q-M346) of males in Saudi Arabia belong to haplogroup Q. It also accounts for 1.8%(3/164: 2 Q*, 1 Q-M346) in the United Arab Emirates and 0.8%(1/121: Q*) in Oman peoples.[68][69]

Haplogroup Q-M242 has also been found in 1.1%(1/87, Q-P36) Syrians[55] and 2.0%(18/914, 14 Q*, 4 Q-M25) in Lebanese.[70]

Approximately 2%(10/523: 9 Q*, 1 Q-M25) of males in Turkey belong to haplogroup Q.[71] In a study(Gokcumen 2008), it was found that among Turks who belong to the Afshar tribe(one of Oghuz Turks) haplogroup Q-M242 is seen with a prevalence of 13%.[72]

South Asia

Q-M242 accounts for 6.9% of Afghans in a study (Haber 2012). In this study, 18.4%(9/49: 8 Q*, 1 Q-M346) of Pashtuns, the largest ethnic group in Afghanistan, are turned out to be haplogroup Q.[73] In another study(Cristofao 2013) with a large sampling, the frequency of Q rises to 8.9%(45/507). In this study, Turkmens of Jawzjan province which is neighboring to Turkmenistan show the highest frequency at 33.8%(25/74: 23 Q-M25, 2 Q-M346), followed by Uzbeks at 8.7%(11/144: 6 Q*, 1 Q-M25, 4 Q-M346).[44] If the results of these studies are aggregated and recalculated by population weights of each ethnic group, the frequency of Q in Afghan males will be 6.3%.[74]

In Pakistan at the eastern end of the Iranian plateau, the frequency of haplogroup Q-M242 is about 2.2% (14/638)[75]~3.4% (6/176).[76]

In a study(Sharma2007), Q-M242 is observed in 2.38%(15/630) of Indian people belonging to different regions and social categories. What is interesting is 14/15 samples do not belong to any known subgroups of Q-M242, with 4 among them showing novel(Indian-specific) ‘ss4bp’ allele under Q-MEH2. This study also reflects the results of some former studies(Sengupta 2006, Seielstad 2003). And, the accumulated result(frequency) of 3 studies is turned out to be 1.3%(21/1615), with 11 out of 21 Q samples ranked as high Caste in social category.[5] In another regional studies on India, Q-M242 is found in 2.8%(8/284, all Q-M346) of Gujarat(west India) people[77] and in 6.1%(3/49) of Hindus in New Delhi, the capital of India.[78]

1.2% of Nepalese people in Kathmandu,[36] the capital of Nepal, are in Q-M242.

In a study in which Q-M242 is just classified in P* group, P*(x R1, R2) accounts for 9.7%(23/237: Chakma 13/89, Marma 4/60, Tripura 6/88) in 3 ethnic groups of Bangladesh.[79] In many cases, all or most of P*(x R1, R2) means Q-M242, and thus most of P*(9.7%) samples in that study can be estimated to be Q-M242.

3.3% of Sri Lankans[55] are also in Q-M242.

Europe

Q-M242 distribute across most of European countries at low frequencies, which decrease to the west and to the south.

Eastern Europe

In Eastern Europe, Q-M242 comprises about 1.7% of males. Q-M242 is found in about 2% of Russians,[80] 1.5% of Belarusians,[81] 1.3% of Ukrainians[82] 1.3% of Poles(Poland),[82] 2% of Czechs,[83] 1.5% of Slovakians,[82] about 2.2% of Hungarians,[82][84] 1.2% of Romanians,[82] 0.8% of Moldavians,[85] and 0.5%(4/808: 2 Q-M378, 1 Q-M346, 1 Q-M25) of Bulgarians[86] On the other hand, 3.1% of Szeklers from Transylvania(who have claimed descendants of Attila’s Huns) are turned out to be P*(xR1-M173),[87] which virtually means Q-M242. In a related DNA Project of FT-DNA, the frequency of Q-M25 in Szekelys(Szeklers) reaches 4.3%.[88] [89]

Caucasus Region shows the frequency at 1.2% in a study,[65] but It may reach over 4% in Azarbaijan, in that 4.8% of the neighboring Azeris in Iran harbor Q-M242.[64] It is 1.3% in Georgians and Armenians respectively, and Armenian subclades consist of Q-M378(L245), Q-M346, and Q-M25.[82]

Northern Europe

In Northern Europe, haplogroup Q comprises about 2.5% of males. According to Swedish Haplogroup Database, 4.1%(27/664, as of Jan 2016) of Sweden males belong to Q-M242. About 2/3 of the samples analyzed subclades in detail belong to Q1a2b-F1161/L527 and about 1/3 are in Q1a2a-L804. To speak by county, they distribute intensively in the southern region(Götaland: Do not confuse it with Gotland Islands), rarely to the north. The highest frequency of Q is shown at 20% in Halland County, followed by 14.3% in Jönköping, 12.5% in Kronoberg, 12.5% in Västmanland, 8.7% in Gävleborg, 4.3% in Västra Götaland, 4% in Stockholm, 3.9% in Skåne, and so on.[90] If recalculated by county-population weights, the frequency of Q in Sweden reaches 4.7%.

In Norway, Q-M242 is found in about 2.6% of males, with Q-L804 being more common than Q-F1161/L527.[82] It is observed among 1.6% of males in Denmark, 3% in Faroe Islands.[91] On the other hand, it is 0.2% in Finland, 4.6% in Latvia, 1.1% in Lituania, 0.5% in Estonia.[82]

Western Europe

In Western Europe, Q-M242 is observed at very low frequencies around 0.5% in most of the countries such as Germany, France, Britain, etc., but some regions show a little higher. It is 2.1% in Swiss,[82] and it reaches 5.1% in Lyon(Rhône-Alpes) region of France.[92]

Southern Europe

Southern Europe also shows low frequencies of Q around 0.5%~1%, but some regions exhibits different figures. It is 1.9% in mainland Croatia, but it reaches 14.3%(13/91) in Hvar Islands and 6.1%(8/132) in Korcula Islands.[92] Also, it is about 0.6% in Italy, but it rises to 2.5%(6/236) in Sicily, where it reaches 16.7%(3/18) in Mazara del Vallo region, followed by 7.1%(2/28) in Ragusa, 3.6% in Sciacca,[93] and 3.7% in Belvedere Marittimo.[94]

On the other hand, according to a study(Behar 2004), 5.2%(23/441) of Ashkenazi Jewish males belong to haplogroup Q-P36.[95] This has subsequently been found to be entirely the Q-M378 subclade and may be restricted to Q-L245. Also, 2.3%(4/174)[96]~5.6%(3/53)[97] of Sephardic Jews are in haplogroup Q.

Africa

Haplogroup Q is rarely found across North Africa. It is observed in 0.7%(1/147),[69] of Egyptians and in 0.6%(1/156)[65] of Algerian people. Surprisingly, it is also witnessed in 0.8%(3/381, all Q-M346) of males from Comoros which is located in between East Africa and Madagascar.

To combine the data above, Q-M242 is estimated to be in about 3.1% of males of the world.

Subclade distribution

DNA

The 12.6 thousand year old Clovis culture individual on the territory of Montana in the USA belonged to Q-L54*(xM3).[109][110]

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 the results of DNA samples during the excavation of one of the tombs, it was determined that of the 12 men there were: 6 Q1a*(xQ-M120, xQ-M25, xQ-M3), 4 Q1b(1) (M378), 2 Q*(xQ1a, xQ1b; unable to determine subclade). All Q1b-M378 are turned out hosts of the tombs, while half of Q1a* represents hosts and other half sacrificial victims. They date back to the time of early (Western) Han (2nd-1st Century BC).[111] 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.[112][113]

Y-Haplogroup Q in Ancient sites

- Atai(South Siberia)

- North America

- Altai(West Mongol)

- Greenland

- China

See also

Populations

Genetics

Y-DNA Q-M242 subclades

Y-DNA backbone tree

Evolutionary 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
H IJK
IJ K
I J LT [χ 5]  K2
L T NO [χ 6] K2b [χ 7]   K2c K2d K2e [χ 8]
N O K2b1 [χ 9]    P
M S [χ 10] 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 Haplogroup K2e was also previously known as "K2a").
  7. Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  8. Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a, also known as Haplogroup NO).
  9. Haplogroup K2b1 (P397/P399) is similiar to the former Haplogroup MS, but has a broader and more complex internal structure.
  10. Haplogroup S (S-M230) was previously known as Haplogroup K5.

External links

References

Citations

  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. 1 2 3 4 5 6 7 Zegura, S. L.; Karafet, TM; Zhivotovsky, LA; Hammer, MF (2004). "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.
  3. 1 2 v4.01, http://www.yfull.com/tree/Q/
  4. Y-DNA Haplogroup Q and its Subclades - 2010
  5. 1 2 3 Sharma S, Rai E, Bhat AK, Bhanwer AS, Bamezai RN (2007). "A novel subgroup Q5 of human Y-chromosomal haplogroup Q-M242 in India". BMC Evol. Biol. 7 (1): 232. doi:10.1186/1471-2148-7-232. PMC 2258157. PMID 18021436.
  6. "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
  7. 1 2 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.
  9. "Y-DNA Haplotree". Family Tree DNA uses the Y-Chromosome Consortium tree and posts it on their website.
  10. That is because it is a value for the STR DYS435 with a value of 8--> 9 within haplogroup Q-M242 and the trend is to include only binary markers in phylogenetic trees. 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.
  11. R. S. Malhi et al.,2008, 'Distribution of Y chromosomes among Native North Americans: A study of Athapaskan population history', http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584155/
  12. "Frequency Distribution of Y-DNA Haplogroup Q M3". GeneTree. 2010. Retrieved 2010-01-30.
  13. "Ancient human genome sequence of an extinct Palaeo-Eskimo". Nature Publishing Group. 2010. pp. 463, 757–762. doi:10.1038/nature08835. Retrieved 2010-02-11.
  14. Jill Katharina Olofsson et al., Peopling of the North Circumpolar Region – Insights from Y Chromosome STR and SNP Typing of Greenlanders, DOI: 10.1371/journal.pone.0116573
  15. //
  16. Hammer et al., 2005, 'Population structure of Y chromosome SNP haplogroups in the United States and forensic implications for constructing Y chromosome STR databases', Forensic Sci Int. 2006 Dec 1;164(1):45-55. Epub 2005 Dec 5
  17. 1 2 Bortolini, M; Salzano, F; Thomas, M; Stuart, S; Nasanen, S; Bau, C; Hutz, M; Layrisse, Z; et al. (2003). "Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas". The American Journal of Human Genetics 73 (3): 524–39. doi:10.1086/377588. PMC 1180678. PMID 12900798.
  18. Vullo, Carlos; et al. (2014). "'Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations'". Int J Legal Med 129: 673–680. doi:10.1007/s00414-014-1025-x.
  19. Jens Söchtig et al. 2015 Genomic insights on the ethno-history of the Maya and the ‘Ladinos’ from Guatemala, doi:10.1186/s12864-015-1339-1 => Guatemala population consists of about 40% Natives(Mayans)+60% Ladinos. According to this paper, 89% of Mayan and 25% of Ladinos belong to Y-DNA Q. Thus, 40*0.89+60*0.25=50.6%
  20. 1 2 3 4 5 6 7 Battaglia; et al. (2013). "The First Peopling of South America: New Evidence from Y-Chromosome Haplogroup Q". PLOS ONE 8: e71390. doi:10.1371/journal.pone.0071390.
  21. Gaviria, A.; et al. (2013). "Characterization and Haplotype analysis of 11 Y-STR loci in Ecuadorian population". Forensic Sci. Int. Gene. Suppl. doi:10.1016/j.fsigss.2013.10.15.
  22. Martínez-Cortés, G; et al. (2012). "Admixture and population structure in Mexican-Mestizos based on paternal lineages". J. Hum. Genet. 57: 568–74. doi:10.1038/jhg.2012.67. PMID 22832385.
  23. Lovo-Gómez J et al., 'The genetic male legacy from El Salvador', Forensic Sci Int. 2007 Sep 13;171(2-3):198-203
  24. Grugni (2015). "Exploring the Y Chromosomal Ancestry of Modern Panamanians". PLOS ONE 10: e0144223. doi:10.1371/journal.pone.0144223.
  25. Win Rojas et al., 2010 'Genetic Make Up and Structure of Colombian Populations by Means of Uniparental and Biparental DNA Markers', AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 143:13–20 doi:10.1002/ajpa.21270 => (DANE, 2006): 86% of the whole Colombian population self-reported as of Mixed Ancestary, 3.4% as Native American, 10.5% as African-Columbian. In this paper, 12%(114/954) of MA, 95.7%(135/141) of NA, and 23.8%(5/21) of AC are turned out to be Y-DNA Q. Thus, 86*0.12+3.4*0.957+10.5*0.238=16.1%
  26. Carolina Núñez et al., 'Y chromosome haplogroup diversity in a Mestizo population of Nicaragua', Forensic Sci. Int. Genet.(2012), http://dx.doi.org/10.1016/j.fsigen.2012.06.011. The author revised his previous paper, genotyping 2 more samples as haplogroup Q by Y-SNP test.
  27. Daniel Corach et al.,2010, 'Inferring Continental Ancestry of Argentineans from Autosomal, Y-Chromosomal and Mitochondrial DNA', Annals of Human Genitics, V.74, I1, pp65-76, http://onlinelibrary.wiley.com/doi/10.1111/j.1469-1809.2009.00556.x/full
  28. Ramallo et al., 2009, 'Comparison of Y-chromosome haplogroup frequencies in eight Provinces of Argentina', Forensic Science International Genetics Supplement Series 12/2009; 2(1):431-432, doi:10.1016/j.fsigss.2009.08.047
  29. http://www.fsigeneticssup.com/article/S1875-1768(08)00138-8/fulltext, 5 out of 100 samples in the table can be classified as haplogroup Q-M3.
  30. T. Palha et al., 'Disclosing the Genetic Structure of Brazil through Analysis of Male Lineages with Highly Discriminating Haplotypes', PLoS One. 2012;7(7):e40007.doi: 10.1371/journal.pone.0040007 => about 80 out of 2,024(3.95%) samples in the paper collected from all the regions of Brazil can be classified as Y-DNA Q.
  31. 1 2 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.
  32. 1 2 3 Pakendorf, Brigitte; Novgorodov, Innokentij N.; Osakovskij, Vladimir L.; Danilova, Al’Bina P.; Protod’Jakonov, Artur P.; Stoneking, Mark (2006). "Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts". Human Genetics 120 (3): 334–353. doi:10.1007/s00439-006-0213-2. PMID 16845541.
  33. 1 2 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.
  34. 1 2 3 Wen B, Li H, Lu D, et al. (September 2004). "Genetic evidence supports demic diffusion of Han culture". Nature 431 (7006): 302–5. doi:10.1038/nature02878. PMID 15372031. Supplementary Table 2: NRY haplogroup distribution in Han populations
  35. 1 2 3 4 Su, Bing; Xiao, Chunjie; Deka, Ranjan; Seielstad, Mark T.; Kangwanpong, Daoroong; Xiao, Junhua; Lu, Daru; Underhill, Peter; et al. (2000). "Y chromosome haplotypes reveal prehistorical migrations to the Himalayas". Human Genetics 107 (6): 582–90. doi:10.1007/s004390000406. PMID 11153912.
  36. 1 2 3 4 5 Tenzin Gayden et al., 'The Himalayas as a Directional Barrier to Gene Flow', Am J Hum Genet. 2007 May; 80(5): 884–894.doi:10.1086/516757
  37. 1 2 Karafet, Tatiana M.; Hallmark, Brian; Cox, Murray P.; et al. (2010). "Major East–West Division Underlies Y Chromosome Stratification across Indonesia". Mol. Biol. Evol. 27 (8): 1833–1844. doi:10.1093/molbev/msq063. PMID 20207712.
  38. 1 2 3 The Y Chromosome Consortium 2008
  39. M C Dulik, 'Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaian, Am J Hum Genet. 2012 Feb 10; 90(2): 229–246. doi: 10.1016/j.ajhg.2011.12.014
  40. 1 2 3 4 Boris Malyarchuk et al., 'Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a', Journal of Human Genetics (2011) 56, 583– 588; doi:10.1038/jhg.2011.64
  41. T. M. Karafet, 'High Levels of Y-Chromosome Differentiation among Native Siberian Populations and the Genetic Signature of a Boreal Hunter-Gatherer Way of Life', Human Biology, December 2002, v. 74, no. 6, pp. 761–789
  42. Mirabal S, Regueiro M, Cadenas AM, et al. (March 2009). "Y-Chromosome distribution within the geo-linguistic landscape of northwestern Russia". Eur. J. Hum. Genet. 17 (10): 1260–73. doi:10.1038/ejhg.2009.6. PMC 2986641. PMID 19259129.
  43. The SNPs used in the paper are P-M45, R1a1-M17, Q1a2-M3, and other xP-M45 SNPs. And the author mentions that, among ethnic groups in the paper, R1-M173 is harbored only in some eastern Siberian Udegeys and Koryaks and Native Americans. Also, R2(distributed in India and its neighbours) cannot be found in far east Siberia. Thus, P-M45 except some samples mentioned above virtually means Q-M242(xM3). In the paper, 35.3% of Nivkhs and 20.8% of Chukchi people and 18.2% of Siberian Eskimos are shown in P-M45, and 12.5% of Chukchis and 21.2% of Siberian Eskimos are in Q-M3. All of them can be estimated to be in haplogroup Q.
  44. 1 2 3 4 5 6 7 Cristofaro et al., 2013, Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge, •DOI: 10.1371/journal.pone.0076748
  45. Yan, Shi; Chuan-; Wang, Chao; Li, Hui; et al. (2011). "An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4". European Journal of Human Genetics 19 (9): 1013–1015. doi:10.1038/ejhg.2011.64. PMC 3179364. PMID 21505448.
  46. Shan et al., 2014, 'Genetic polymorphism of 17 Y chromosomal STRs in Kazakh and Uighur populations from Xinjiang, China', Int J Legal Med. 2014 Sep;128(5):743-4. doi: 10.1007/s00414-013-0948-y
  47. Soon-Hee Kim et al., 'Y chromosome homogeneity in the Korean population, Int J Legal Med. 2010 Nov;124(6):653-7. doi: 10.1007/s00414-010-0501-1.
  48. Myung Jin Park et al., Understanding the Y chromosome variation in Korea-relevance of combined haplogroup and haplotype analyses, International Journal of Legal Medicine Volume 126, Issue 4, pp. 589-599, July 2012.
  49. The frequencies of Q-M242 shown in both studies(Kim2010, Park2012) are 1.4%(7/506, Kim) and 1.8%(13/706, Park) respectively. But, if recalculated by regional population weights, the adjusted frequencies reach 1.87%(Kim) and 1.91%(Park) respectively, converging to 1.9%.
  50. 1 2 Nonaka, I.; Minaguchi, K.; Takezaki, N. (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. PMID 17274803.
  51. 1 2 3 4 J.A.Trejaut, Taiwan Y-chromosomal DNA variation and its relationship with Island Southeast Asia, BMC Genetics201415:77, DOI: 10.1186/1471-2156-15-77
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  57. ”The Akha are an Asian indigenous group originally from Mongolia.” The Akha’s legend says that their ancestors came to southern China across many mountains and large rivers. So, their original place is believed as Mongolia or Manchuria.
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  60. 1 2 3 Mark Seielstad et al., A Novel Y-Chromosome Variant Puts an Upper Limit on the Timing of First Entry into the Americas, Am J Hum Genet. 2003 Sep; 73(3): 700–705. doi: 10.1086/377589
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  66. The frequency of Q is 4%(6/150, all Q-M25) in Regueiro 2006, in which it is 9.1%(3/33) in north Iran and 2.6%(3/117) in south Iran. But, since more people live in the northern regions, if recalculated by population weights, the frequency will reach about 6%. It is also 6.2%(35/566) in Bekada 2013 with a large-scale sampling.
  67. Nadia Al-Zahery et al., In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq, BMC Evolutionary Biology201111:288 DOI: 10.1186/1471-2148-11-288
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  71. 1 2 Cinnioğlu C, King R, Kivisild T, et al. (January 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Hum. Genet. 114 (2): 127–48. doi:10.1007/s00439-003-1031-4. PMID 14586639.
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  74. To aggregate the results of Haber 2012 and Cristofaro 2013, the frequency of each ethnic group is 33.3%(25/75) in Turkmens, followed by 8.1%(11/136) in Pashtuns, 7.6% in Uzbeks(11/144), 4.4% in Hazara, 3.0% in Tajiks. Currently, Afghans consist of Pashtun 42%, Tajik 27%, Hazara 9%, Uzbek 9%, Turkmen 3%, others 10%. Thus, if recalculated by population weights of ethnic groups, the frequency of Q in Afghans will be 6.3%.
  75. Firasat, Sadaf; Khaliq, Shagufta; Mohyuddin, Aisha; Papaioannou, Myrto; Tyler-Smith, Chris; Underhill, Peter A; Ayub, Qasim (2007). "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan". European Journal of Human Genetics 15 (1): 121–126. doi:10.1038/sj.ejhg.5201726. PMC 2588664. PMID 17047675.
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