Haplogroup Q-M242


Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has one primary subclade, Haplogroup Q1, which includes numerous subclades that have been sampled and identified in males among modern populations.
Q-M242 is the predominant Y-DNA haplogroup among Native Americans and several peoples of Central Asia and Northern Siberia. It is also the predominant Y-DNA of the Akha tribe in northern Thailand and the Dayak people of Indonesia.

Origins

Q-M242 is one of the two branches of P1-M45 also known as K2b2a.
Q-M242 is believed to have arisen around the Altai Mountains area, approximately 17,000 to 31,700 years ago. However, the matter remains unclear due to limited sample sizes and changing definitions of Haplogroup Q: early definitions used a combination of the SNPs M242, P36.2, and MEH2 as defining mutations.

Technical specification of mutation

The polymorphism, “M242”, is a C→T transition residing in intron 1 of the DBY gene and was discovered by Mark Seielstad et. al. in 2003.
The technical details of M242 are:

Subclades

In Y chromosome phylogenetics, subclades are the branches of a haplogroup. These subclades are also defined by single-nucleotide polymorphisms or unique-event polymorphisms. 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 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 also provides an amateur tree.

The 2015 ISOGG tree

The subclades of Haplogroup Q-M242 with their defining mutation, 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.
Below is a 2012 tree by Thomas Krahn of the Genomic Research Center. The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.
This is the 2008 tree produced by the Y Chromosome Consortium. Subsequent updates have been quarterly and biannual. The current version is a revision of the 2010 update. The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.
The subclade proposed by Sharma, which shows polymorphism at 72,314 position of human arylsulfatase D pseudogene, is not represented in any current trees under Q-MEH2. 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.

Distribution

Americas

Several branches of haplogroup Q-M242 have been predominant pre-Columbian male lineages in indigenous peoples of the Americas. Most of them are descendants of the major founding groups who migrated from Asia into the Americas by crossing the Bering Strait. 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 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. 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 –Aleut populations.
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% 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:

Mesoamerica & South America

Haplogroup Q-M242 has been found in approximately 94% of Indigenous peoples of Mesoamerica and South America. Q-M242 built many ancient cultures and civilizations such as Tiwanaku, Caral, Maya, Inca, Aztec, and so on.
As a result of five centuries of wide-scale biological mestizaje, or miscegenation, between indigenous Americans and European immigrants, today in Mesoamerica and South America the frequencies of Q-M242 among the whole male population of each country are lower than indigenous Amerincan populations, but nonetheless run far higher than in the population of North America.
The frequencies of Q among the whole male population of each country reach as follow:
Based on the data above, the average frequency in the whole male population of Mesoamerica and South America is estimated to be about 18%.

Asia

Q-M242 originated in Asia, and is widely distributed across it. Q-M242 is found in Russia, Siberia, Mongolia, China, Uyghurs, Tibet, Korea, Japan, Indonesia, Vietnam, Thailand, India, Pakistan, Afghanistan, Iran, Iraq, Saudi Arabia, Turkmenistan, Uzbekistan, and so on.

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, Q-M242 has been found in 24.3% of all Altaian samples. Among them, Chelkans show the highest frequency at 60.0%, followed by Tubalars at 41% and Altaians-Kizhi at 17%.
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. The frequency reaches 13.7% in the whole samples. In another study, the frequency rises up to 25.8% 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% of Tuvans. Also, Todjins in eastern Tuva shows the frequency at ≤22.2% ~38.5%. 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% of a sample of Tuvans from the village of Kanasi, 9.8% of a sample of Tuvans from the village of Hemu, and 62.5% of a sample of Tuvans from the village of Baihaba in northern Xinjiang near the international border with Altai Republic.
In Siberian Tatars, the Ishtyako-Tokuz sub-group of Tobol-Irtysh group has a frequency of Q-M242 at 38%.
The highest frequencies of Q-M242 in Eurasia are witnessed in Kets at 93.8% and in Selkups at 66.4%. Russian ethnographers believe that their ancient places were farther south, in the area of the Altai and Sayan Mountains. 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 languages and, more controversially, the language of the Huns.
Q-M346 is also found at lower rates in Sojots, Khakassians, Kalmyks and Khanty, and so on.
In far eastern Siberia, Q-M242 is found in 35.3% of Nivkhs in the lower Amur River, and 33.3% of Chukchi people and 39.2% of Siberian Yupik people in Chukotka. 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% of Koryaks in Kamchatka.

East Asia

In some studies, various subgroups of Q-M242 are observed in Mongolia. Q1a2-M346 occupies 1.4~3.1% of Mongols, followed by Q1a1a1-M120, Q1a1b-M25, Q1b-M378. In another study, Q is found in 4% of Mongols. Karafet et al. found Q-L54 in 2.7% and Q-M25 in another 2.7% for a total of 5.3% 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%.
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, north China, central China, and upper east China to 3~4% in northeast China. The average frequency of Q-M242 in northern China is around 4.5%. However, it decreases to about 2% in southern China. In a study published in 2011, researchers have found Q-M242 in 3.3% 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. In another study published in 2011, Hua Zhong et al. found haplogroup Q-M242 in 3.99% of a pool of samples of Han Chinese from northern China and 1.71% of a pool of samples of Han Chinese from southern China.
Q-M242 has been found with notable frequency in some samples of Uyghurs: 15.38% of a sample of Uyghurs from the Turpan area, 7.9% of a sample of Dolan Uyghurs from Horiqol Township of Awat County, and 7.74% of a sample of Uyghurs from the Hotan area. However, other studies have found haplogroup Q in much smaller percentages of Uyghur samples: 3.0% Q-P36 Uygur, 1.6% Q-M120 Lop Uyghur. Haplogroup Q was not observed in a sample of 39 Keriyan Uyghurs from the village of Darya Boyi, located on the Keriya River deep in the Taklamakan Desert.
Haplogroup Q was observed in 3.2% of males in Tibet in one study and in 1.23% of males in Tibet in another study, but this haplogroup was not observed in a sample of males from Tibet in a third study.
It is found in about 1.9% of South Koreans, showing the highest frequency in Seoul and Gyeonggi Province at 2.7% and decreasing ones to the south. It has been found in about 0.3% of Japanese and in 0.3%~1.2% 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.

Southeast Asia

Haplogroup Q shows low frequencies in Southeast Asia. In a study, the frequencies of haplogroup Q is 5.4% in Indonesia, 3.1% in the Philippines, 2.5% in Thailand. However, other studies show 0% or near 0% frequencies in those countries.
In the case of Vietnam, the frequency is 7.1% in one study of a sample of Vietnamese reported to be from southern Vietnam and 4.3% in a sample of Kinh people from Ho Chi Minh City in southern Vietnam, but 0% or under 1% in other studies in which samples have been collected in Hanoi in northern Vietnam. So, it is hard to define average frequencies.
Only some regions and ethnic groups in the continent show high frequencies. Q-M242 is found in 2.8% in Myanmar, and all the Q samples are concentrated in 18.8% in Ayeyarwady and 7.1% Bago regions in southwest Myanmar. And, Q-M242 is found in 55.6% in the Akha tribe in northern Thailand.

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%~6% of Kazakhs. A study published in 2017 found haplogroup Q Y-DNA in 3.17% of a large pool of samples of Kazakh tribes; however, haplogroup Q was concentrated in the members of the Qangly tribe, and it was much less common among the other tribes. The Qangly tribe is related at least in name to the earlier Kankalis and probably also the Kangar union. Haplogroup Q is found in about 2% of Kyrgyz people.
In the southern regions, Q-M242 is found in 5%~6% of Tajiks. Karafet et al. 2001 found P-DYS257, which should be roughly equivalent to haplogroup Q-M242, in 4/54 = 7.4% of a sample of Uzbeks, apparently sampled in Uzbekistan. Wells et al. 2001 found P-M45, which should be roughly equivalent to a mix of Q-M242 and R2-M479, in 20/366 = 5.5% of a pool of samples of Uzbeks from seven different regions of Uzbekistan. Di Cristofaro et al. 2013 found Q-M242 in 11/127 = 8.7% of a pool of samples of Uzbeks from three different provinces of Afghanistan, including 5/94 Q-M242, 4/94 Q-M346, and 1/94 Q-M25 in a sample of Uzbeks from Jawzjan Province, whose northern border abuts the southeastern corner of Turkmenistan, and 1/28 Q-M242 in a sample of Uzbeks from Sar-e Pol Province. Wells et al. found P-M45 in 10.0% of a sample of Turkmens from Turkmenistan, whereas Karafet et al. found Q-M25 in 50.0% of another sample of Turkmens from Turkmenistan, so the frequency of haplogroup Q in that country is not yet clear. However, Grugni et al. found Q-M242 in 42.6% of a sample of Turkmens from Golestan, Iran, and Di Cristofaro et al. found Q-M25 in 31.1% and Q-M346 in 2.7% for a total of 33.8% Q-M242 in a sample of Turkmens from Jawzjan, Afghanistan, so the frequency of Q-M242 may reach about 40% in Turkmens of Afghanistan and Iran who live in the areas adjacent to Turkmenistan.

Southwest Asia

exhibits high frequencies of Q in northern Iran, and gradually lowering ones to the southwest.
Q-M242 accounts for 5.5% in Iran according to Grugni 2012, which shows a large and well allocated sampling. The Q samples in the study consist of various subclades such as Q*, Q-M120, Q-M25, Q-M346, Q-M378. The highest frequency is at 42.6% in Turkmens of Golestan, followed by 9.1% in Isfahan, 6.8% in Khorasan, 6% in Lorestan, 4.9% in Azarbaijan Gharbi, 4.5% in Fars, and so on. Turkmens are known as the descendants of Oghuz Turks who built many Turkic empires and dynasties. Other studies also show similar frequencies.
In a study, the frequency of Q is 1.9% in Iraqis, and 2.8% in Marsh Arabs who are known as the descendants of ancient Sumerians.
Approximately 2.5% of males in Saudi Arabia belong to haplogroup Q. It also accounts for 1.8% in the United Arab Emirates and 0.8% in Oman peoples.
Haplogroup Q-M242 has also been found in 1.1% Syrians and 2.0% in Lebanese.
Approximately 2% of males in Turkey belong to haplogroup Q. In a study, it was found that among Turks who belong to the Afshar tribe haplogroup Q-M242 is seen with a prevalence of 13%.

South Asia

Q-M242 accounts for 6.9% of Afghans in a study. In this study, 18.4% of Pashtuns, the largest ethnic group in Afghanistan, turned out to be haplogroup Q. In another study with a large sampling, the frequency of Q rises to 8.9%. In this study, Turkmens of Jowzjan Province which is neighboring to Turkmenistan show the highest frequency at 33.8%, followed by Uzbeks at 8.7%. 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%.
In Pakistan at the eastern end of the Iranian Plateau, the frequency of haplogroup Q-M242 is about 2.2% ~3.4%.
In a study, Q-M242 is observed in 2.38% 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 ‘ss4bp’ allele under Q-MEH2. This study also reflects the results of some former studies. And, the accumulated result of 3 studies is turned out to be 1.3%, with 11 out of 21 Q samples.
In a regional study in Gujarat, Q-M242 was found at its highest 12% among Nana Chaudharis while the overall percentage in Gujarat was found to be 2.8%. In another study, 2.6% of Tharus in Chitwan district and 6.1% of Hindus in New Delhi, the capital of India were found to be Q-M242 positive.
In a study in which Q-M242 is just classified in P* group, P* accounts for 9.7% in three ethnic groups of Bangladesh. In many cases, all or most of P* means Q-M242, and thus most of P* samples in that study can be estimated to be Q-M242.
1.2% of Nepalese people in Kathmandu, the capital of Nepal and 3.2% of people from Tibet are in Q-M242.
3.3% of Sri Lankans are also in Q-M242.

Europe

Q-M242 is distributed across most European countries at low frequencies, and the frequencies decrease to the west and to the south.

Central- and Eastern Europe

In Central- Eastern Europe, Q-M242 comprises about 1.7% of males. Q-M242 is found in about 2% of Russians, 1.5% of Belarusians, 1.3% of Ukrainians 1.3% of Poles, 2% of Czechs, 1.5% of Slovaks, about 2.2% of Hungarians, 1.2% of Romanians, 0.8% of Moldovans, and 0.5% of Bulgarians On the other hand, 3.1% of Székelys from Transylvania turned out to be P*, which virtually means Q-M242. In a related DNA Project of FT-DNA, the frequency of Q-M25 in Székelys reaches 4.3%.
The Caucasus region shows a frequency at 1.2% in a study, but it may reach over 4% in Azerbaijan, in that 4.9% of the neighboring Iranian Azerbaijanis harbor Q-M242. It is 1.3% in Georgians and Armenians respectively, and Armenian subclades consist of Q-M378, Q-M346, and Q-M25.

Northern Europe

In Northern Europe, haplogroup Q comprises about 2.5% of males. According to the Swedish Haplogroup Database, 4.1% of Swedish 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. By county, they are distributed intensively in the southern region, and rarely to the north. 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. It is observed among 1.6% of males in Denmark, 3% in the Faroe Islands. In an article on the haplotypes of Icelanders, 7.2% of males in Iceland are labelled as R1b-Branch A, but they are actually Q-M242. On the other hand, it is 0.2% in Finland, 4.6% in Latvia, 1.1% in Lithuania, 0.5% in Estonia.

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, United Kingdom, etc., but some regions show a little higher. It is 2.1% in Switzerland, and it reaches 5.1% in Lyon region of France. It is about 4% in Shetland of northernmost Britain, with a place in it showing the highest figure at 8%. Shetland has been known to be a settlement of Vikings. And, surprisingly, Q-M242 in Shetland has turned out to be generically closely linked to the Q-M242 in Central Asia,. Also, Shetland Q-M242 is revealed to be linked to some Q-M242 of Azeris.

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% in Hvar Islands and 6.1% in Korčula. Also, it is about 0.6% in Italy, but it rises to 2.5% in Sicily, where it reaches 16.7% in Mazara del Vallo region, followed by 7.1% in Ragusa, 3.6% in Sciacca, and 3.7% in Belvedere Marittimo.
On the other hand, according to a study, 5.2% of Ashkenazi Jewish males belong to haplogroup Q-P36. This has subsequently been found to be entirely the Q-M378 subclade and may be restricted to Q-L245. Also, 2.3% ~5.6% of Sephardi Jews are in haplogroup Q.

Africa

Haplogroup Q is rarely found across North Africa. It is observed in 0.7%, of Egyptians and in 0.6% of Algerian people. Surprisingly, it is also witnessed in 0.8% 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

Y-DNA Q-M242 subclades

Y-DNA backbone tree

Citations