Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has two primary subclades: Q-L472/Q-MEH2 (Q1) and Q-L275 (Q2). These include numerous subclades that have been sampled and identified in males among modern populations.
Q is the predominant Y-DNA haplogroup among Native Americans, several peoples of Siberia and Central Asia and Swati tribe.
Defining mutations
The polymorphism M242, is a C→T transition residing in intron 1 (IVS-866) of the DBY gene and was discovered by Mark Seielstad et al. in 2003. The technical details of M242 are:
Nucleotide change: C to T Position (base pair): 180 Total size (base pairs): 366 Forward 5′→ 3′: Reverse 5′→ 3′:
Other defining SNPs unique to Q-M242 include: FGC1752, F2603/M1020, L232/S432, M1115, Y2000/FGC1757, FGC6793, Y1984/FGC1753, Y1987/FGC1754/F6492, FGC7650(H), E337/L808/CTS3727/M1105, M1047(H), M1074, M1154, M1166, Y1972/FGC4603/F7839(H), Y2002/FGC1756/F6477(H), CTS7532/M1133, F3067/M1150/V4116, CTS4717/M997, F1237/M1077/V2083/M1077.1/M1077.2/V2083.1/V2083.2, M1180(H), CTS4717/M997, F826/M1064, F1293/M1080/V2215, F1728/M1092, F1829/M992/V2569/Z801, F2603/M1020, F3067/M1150/V4116, F4052/M1063/V1090, FGC1751, FGC1755 and M1163.
Early definitions of haplogroup Q used a combination of the SNPs M242, MEH2 and P36.2. However, both MEH2 and P36.2 were later found to be synonymous with L472 and, therefore, to define haplogroup Q1.
Origins Haplogroup Q-M242 is one of two very populous subclades of P1, alongside R-M207.
Y-chromosome haplogroup Q-M242 is believed to have originated in Central Asia and southwestern Siberia, approximately 15,000 to 25,000 years ago.
Distribution Americas
Subclades of Q-M346 (Q1b, as of 2019) were the predominant Y-DNA lineages among pre-Columbian indigenous peoples of the Americas. These include, in particular, subclades of Q-M3 (Q1b1a1a) and Q-Z780 (Q1b1a2). Most were descendants of the major founding groups who migrated from Asia into the Americas by crossing the Bering Strait. Subclades of Q1b (M346) other than Q1b1a1a (M3) and Q1b1a2 (Z780) are virtually restricted to the Eurasian continent.
Among Native Americans from North America, two Q-lineages outside Q1b/Q-M346 have also been found. These are Q-P89.1 (under Q1, a.k.a. Q-L472/MEH2) and Q-NWT01 (under Q-F746, a.k.a. Q1a1). These may have not been among the initial migrants from Beringia, but from later arrivals who traveled, using boats, along the shoreline of East Asia and then into North America.
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. Regardless, Q-M242 came to dominate the paternal lineages in the Americas.
North America In the indigenous people of 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, 87% in SC Apache, and about 80% in North American Eskimo (Inuit, Yupik)–Aleut populations. (Q-M3 occupies 46% among Q in North America)
On the other hand, a 4000-year-old Saqqaq individual belonging to Q1a-MEH2* has been found in Greenland. Surprisingly, he turned out to be genetically more closely related to Far East Siberians such as Koryaks and Chukchi people rather than Native Americans. 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%.
Q-M242 is estimated to occupy 3.1% of the whole US population in 2010:
EthnicityPercentage of USA population †Haplogroup Q frequencyWhite63.7%Q-P36* 0.6% & Q-M3 0.1% Latino16.3% Q-P36* 3.8% & Q-M3 7.9% Black12.6%Q-P36* (xM3) 0.2% Asian4.8%~0%Native American ‡ 0.9%Q-P36* 31.2% & Q-M3 26.9% Source :
† According to the US National Population Census data (2010)Population Estimates
‡ Mainland and Alaska, not including the Pacific islands
Mesoamerica & South America Haplogroup Q-M242 has been found in approximately 94% of Indigenous peoples of Mesoamerica and South America.
The frequencies of Q among the whole male population of each country reach as follows: 61% in Bolivia. 51% in Guatemala, => Guatemala population consists of about 40% Tribal Natives (Mayans)+60% Native (Spanish Speaking). 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% 40.1% (159/397) to 50% in Peru 37.6% in Ecuador, 37.3% (181/485) in Mexico (30.8% (203/659) among the predominant Spanish speaking Indigenous segment) 31.2% (50/160) in El Salvador, 15.3% (37/242) to 21.8% (89/408) in Panama, 16.1% in Colombia,=> (DANE, 2006) 86% of the whole Colombian population self-reported as of Mixed Ancestry, 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% 15.2% (25/165) in Nicaragua, The author revised his previous paper, genotyping 2 more samples as haplogroup Q by Y-SNP test. 9.7% (20/206) in Chile, 5.3% (13/246 in 8 provinces in northeastern, central, southern regions) to 23.4% (181/775 in 8 provinces in central-west, central, northwest regions) in Argentina, 5% in Costa Rica, 3.95% in Brazil,=> 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. and so on.
Asia Q-M242 originated in Asia (Altai region), and is widely distributed across it. Q-M242 is found in Russia, Siberia (Kets, Selkups, Siberian Tatars, Siberian Yupik people, Nivkhs, Chukchi people, Yukaghirs, Tuvans, Altai people, Koryaks, etc.), Mongolia, China, Uyghurs, Tibet, Korea, Japan, Indonesia, Vietnam, Thailand, India, Pakistan, Afghanistan, 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 (Dulik 2012), 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. In another study, the frequency rises up to 25.8% (23/89: all Q-M346) in Altaians. Based on 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 Mongolia, shows higher frequency of Q-M242. It is found in 14%~38.0% (41/108) of Tuvans. Also, Todjins (Tozhu Tuvans) in eastern Tuva show the frequency at ≤22.2% (8/36 P(xR1))~38.5% (10/26, all Q-M346(xM3)). So, the average frequency of Q-M242 among Tuvans-Todjins in Tuva Republic is about 25%. Haplogroup Q-M242 has been found in 5.9% (3/51) of a sample of Tuvans from the village of Kanasi, 9.8% (5/51) of a sample of Tuvans from the village of Hemu, and 62.5% (30/48) of a sample of Tuvans from the village of Baihaba in northern Xinjiang near the international border with Altai Republic.
Baraba Tatars, who represent one out of three major groups of Siberian Tatars, have almost 50% of haplogroup Q-M242, and are represented by two lineages: Q-YP4000 and Q-L330. The Ishtyako-Tokuz sub-group of Tobol-Irtysh group of Siberian Tatars has a frequency of Q-M242 at 38%, while Eushta Tatars have 17.6% of haplogroup Q and Iskero-Tobolsk Tatars 16.7%.
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). Russian ethnographers believe that their ancient places were farther south, in the area of the Altai and Sayan Mountains (Altai-Sayan region). Their populations are currently small in number, being just under 1,500 and 5,000 respectively. In linguistic anthropology, the Ket language is significant as it is currently the only surviving one in the Yeniseian language family which has been linked by some scholars to the Native American Na-Dené languagesE. J. VAJDA, "Siberian Link with Na-Dene Languages." The Dene–Yeniseian Connection, ed. by J. Kari and B. Potter(2010), pp.33–99, Anthropological Papers of the University of Alaska, new series, vol. 5(2010), Fairbanks: University of Alaska Fairbanks, Department of Anthropology and, more controversially, the language of the Huns. (See: L. Lieti, E. Pulleybank,E. G. Pulleyblank, "The consonontal system of old Chinese" [Pt 1], Asia Major, vol. IX (1962), pp. 1–2 E. Vajda,E. J. Vajda, Yeniseian Peoples and Languages: A History of Yeniseian Studies with an Annotated Bibliography and a Source Guide (2013, Oxford/New York, Routledge) pp.103-106, etc. 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) and Khanty, and so on.
In far eastern Siberia, Q-M242 is found in 35.3% of Nivkhs (Gilyaks) in the lower Amur River, and 33.3% of Chukchi people and 39.2% of Siberian Yupik people in Chukotka (Chukchi Peninsula). 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. It is found in 30.8% of Yukaghirs who live in the basin of the Kolyma River, which is located northwest of Kamchatka. It is also found in 15% (Q1a* 9%, Q-M3 6%) of Koryaks in Kamchatka.
East Asia
In some studies, various subgroups of Q-M242 are observed in Mongolia. Q1a2-M346 (mostly Q-L330) occupies 1.4~3.1% of Mongols (1/2~2/3 among Q samples), followed by Q1a1a1-M120 (0.25~1.25%), Q1a1b-M25 (0.25~0.63%), Q1b-M378. In another study, Q is found in 4% of Mongols. Karafet et al. (2018) found Q-L54(xM3) in 2.7% (2/75) and Q-M25 in another 2.7% (2/75) for a total of 5.3% (4/75) haplogroup Q Y-DNA in a sample of Khalkha Mongols from Ulaanbaatar, Mongolia. Based on these studies, the average frequency of Q-M242 in Mongols is estimated to be about 4~5%.