Haplogroup D-M174 is believed to have originated in
Asia some 60,000 years ago.[2][4] While haplogroup D-M174, along with
haplogroup E, contains the distinctive
YAPpolymorphism—which indicates their closer ancestry than C—no haplogroup D-M174
chromosomes have been found outside of Asia.[4] Haplogroup D1 is also often associated with
South Asian populations.[7]
A 2017 study by Mondal et al. finds that the
Riang people (a
Tibeto-Burmese population) and the
Andamanese share the same D clade (D1a3, also known as D1a2b) and have their closest lineages with other clades in East Asia. The
Jarawa and
Onge shared D1a2b with each other within the last ~7,000 years. The East Asian D1a2b diverged from the
Japanese D1a2a lineage ~53,000 years ago. The authors conclude: "This strongly suggests that haplogroup D does not indicate a separate ancestry for Andamanese populations. Rather, haplogroup D was part of the standing variation carried by the Eastern OOA expansion, and later lost from most of the populations except in Andaman and partially in Japan and Tibet".[8]
A 2020 genetic study by Hallast et al. on ancient and modern haplogroups using a
phylogenetic analysis of haplogroup C, D, and FT sequences—including very rare deep-rooting lineages such as D0/D2, a divergent D lineage not belonging to D-M174—argues that the initial splits within
haplogroup CT (an ancestor of
DE) occurred in
Africa. It also argues that
phylogeographic analyses of ancient and present-day non-African
Y chromosomes all point to East/Southeast Asia as the origin of all known surviving non-African male lineages (apart from recent migrants) soon after an initial 70,000–55,000-year-ago migration from Africa of
basal haplogroup D and other basal Y-lineages. It argues that these lineages then rapidly expanded across
Eurasia, diversified in Southeast Asia, and expanded westward around 55,000–50,000 years ago, replacing other local lineages within Eurasia; haplogroup D (as D-M174) then underwent rapid expansions within Eastern Eurasian populations and consists of five branches that formed about 45,000 years ago. The study finds that these haplogroups currently have their greatest diversity in Eastern Eurasia (East/Southeast Asia). Tibeto-Burmese populations of East and Southeast Asia were found to have the highest amount of diversity.[9]
Haplogroup D is also found in populations in China proper and in
Korea, but with much lower frequency than in Tibet and Japan. A study published in 2011 found D-M174 in 2.49% (43/1729) of Han Chinese males, with frequencies tending to be higher than average toward the north and west of the country (8.9% of
Shaanxi Han, 5.9% of
Gansu Han, 4.4% of
Yunnan Han, 3.7% of
Guangxi Han, 3.3% of
Hunan Han, and 3.2% of
Sichuan Han).[11] In another study of Han Chinese Y-DNA published in 2011, haplogroup D-M174 was observed in 1.94% (7/361) of a sample of unrelated Han Chinese male volunteers at
Fudan University in
Shanghai, with the origins of most of the volunteers being traced back to East China (
Jiangsu,
Zhejiang, Shanghai, and
Anhui).[12]
In Korea, haplogroup D-M174 was observed in 3.8% (5/133) of a sample from
Daejeon,[13] 3.5% (3/85) of a sample from
Seoul,[14] 3.3% (3/90) of a sample from
Jeolla,[15] 2.4% (2/84) of a sample from
Gyeongsang,[15] 2.3% (13/573) of another sample from Seoul,[13] 1.4% (1/72) of a sample from
Chungcheong,[15] 1.1% (1/87) of a sample from
Jeju,[15] and 0.9% (1/110) of a third sample from Seoul-
Gyeonggi.[15] In other studies, haplogroup D-M174 has been observed in 6.7% (3/45)[16] and 4.0% (3/75)[17] of samples from Korea without any further specification of the area of sampling.
Little high-resolution data regarding the phylogenetic position of Han Chinese and Korean members of Y-DNA haplogroup D has been published, but the available data suggests that most Han Chinese members of haplogroup D should belong to clades found frequently among Tibetans (especially the D-M15 clade, also found among speakers of some
Lolo-Burmese and
Hmong-Mien languages), whereas most Korean members of haplogroup D should belong to the D-M55 clade, which is found frequently among
Ainu,
Ryukyuan, and
Japanese people.[17][15][3]
Haplogroup D Y-DNA has been found (albeit with low frequency) among modern populations of the
Eurasian steppe, such as:
It has also been found among linguistically similar (
Turkic- or
Mongolic-speaking) modern populations of the desert and oasis belt south of the steppe, such as
Yugurs,
Bao’an,
Monguors,
Uyghurs, and
Uzbeks. In commercial testing, members have been found as far west as
Romania in Europe and
Iraq in Western Asia.[23]
Unlike haplogroup C-M217, haplogroup D-M174 is not found in the
New World; it is not present in any modern Native American (North, Central, or South) populations. While it is possible that it traveled to the New World like haplogroup C-M217, those lineages apparently became extinct.
Haplogroup D-M174 is remarkable for its rather extreme geographic differentiation, with a distinct subset of chromosomes being found exclusively in each of the populations that contains a large percentage of individuals whose Y-chromosomes belong to haplogroup D-M174:
haplogroup D-M15 among
Tibetans, as well as other East/Southeast Asian populations that display low frequencies of haplogroup D-M174 Y-chromosomes;
haplogroup D-M55 among the various populations of the Japanese archipelago and with low frequency among
Koreans; and haplogroup D-P99 among the inhabitants of Tibet and some other parts of central Eurasia (e.g. Mongolia[24] and the
Altai[17][18][19]). D-M174* without positive-tested subclades D-M15 or D-M55 is found at high frequencies among
Andaman Islanders, and recently an Andamanese subclade was found to be
D-Y34637 (D1a2b).[25] Another type (or types) of paragroup D-M174* without positive-tested subclades of D-M15, D-P47, or D-M55 is found at a very low frequency among the
Turkic and
Mongolic populations of
Central Asia, amounting to no more than 1% in total. This apparently ancient diversification of haplogroup D-M174 suggests that it may perhaps be better characterized as a "super-haplogroup" or "macro-haplogroup".
In one study, the frequency of haplogroup D-M174 without positive-tested subclades found among
Thais was 10%.[2] Su et al. (2000) found DE-YAP/DYS287(xM15) in 11.1% (5/45) of a set of three samples from Thailand—including 20% (4/20) North Thai, 20% (1/5)
So, and 0% (0/20) Northeast Thai—and in 16.7% (1/6) of a sample from
Guam.[26] Meanwhile, the authors found D-M15 in 15% of a pair of samples of
Yao, including 30% (3/10) Yao
Jinxiu and 0% (0/10) Yao
Nandan; 14.3% (2/14) of a sample of
Yi; 3.8% (1/26) of a sample of
Cambodians; and 3.6% (1/28) of a sample of
Zhuang.[26] Dong et al. (2002) found DE-YAP Y-chromosomes in 12.5% (2/16) of a sample of
Jingpo from
Luxi City, Yunnan, 10.0% (2/20) of a sample of
Dai from Luxi City, and 1.82% (1/55) of a sample of
Nu from
Gongshan and
Fugong, Yunnan.[27]
Distribution and subclades
The haplogroup D-M174 Y-chromosomes that are found among Tibeto-Burman populations as well as people of the Japanese archipelago belong to haplogroup D1a2b, D1a2a, and D1a1. D-M55 (D1a2a) is particularly distinctive, bearing a complex of at least five individual mutations along an internal branch of the haplogroup D-M174
phylogeny, thus distinguishing it clearly from the other haplogroup D-M174 chromosomes that are found among Tibetans and Andaman Islanders and providing evidence that Y-chromosome haplogroup D-M55 was the modal haplogroup in the ancestral population that developed the prehistoric
Jōmon culture in the Japanese islands.
It is suggested that the majority of D-M174 Y-chromosome carriers migrated from
Central Asia to
East Asia. One group migrated to the Andaman Islands, thus forming or helping to form the Andamanese people. Another group stayed in modern Tibet and southern China (today Tibeto-Burman peoples), and a third group migrated to Japan, possibly via the
Korean Peninsula (pre-
Jōmon people).[2][17]
D-Z27276 (D1a1)
Haplogroup D-Z27276 is the common ancestor of D-M15 and D-P99, which are common in Tibet (China).
D-M15 (D1a1a)
D-M15 was first reported to have been found in a sample from
Cambodia and
Laos (1/18 = 5.6%) and in a sample from Japan (1/23 = 4.3%) in a preliminary worldwide survey of Y-DNA variation in extant human populations.[28]
A study published in 2011 found D-M15 in 7.8% (4/51) of a sample of
Hmong Daw and in 3.4% (1/29) of a sample of
Xinhmul from northern Laos.[32]
D-P47 (D1a1b1)
This subclade is found with high frequency among
Pumi,[2]Naxi,[2] and
Tibetans,[33][2] with a moderate distribution in
Central Asia.[2] According to one study, Tibetans have a frequency of about 41.31% of haplogroup D-P47.[2]
D-Z3660 (D1a2)
For about 7,000 years, the natives of the Andaman Islands shared a common ancestry with each other. The closest lineage to the Andamanese is the Japanese haplogroup D, with which it has a very old relationship, dating back to about 53,000 years.[8]
D-M55 (D1a2a)
Previously known as
D-M55, D-M64.1/Page44.1 (D1a2a) is found with high frequency among
Ainu[34] and with medium frequency among
Japanese[35] and
Ryukyuans.[35]
Kim et al. (2011) found haplogroup D-M55 in 2.0% (1/51) of a sample of
BeijingHan and in 1.6% (8/506) of a pool of samples from
South Korea, including 3.3% (3/90) from the Jeolla region, 2.4% (2/84) from the Gyeongsang region, 1.4% (1/72) from the Chungcheong region, 1.1% (1/87) from the Jeju region, 0.9% (1/110) from the Seoul-Gyeonggi region, and 0% (0/63) from the Gangwon region.[15] Hammer et al. (2006) found haplogroup D-P37.1 in 4.0% (3/75) of a sample from South Korea.[17]
D-M116.1, which is a subclade of D-M55, has been observed in one individual in a sample from Micronesia (n=17) according to the supplementary material of a study published in 2006.[17] D-M116.1 also has been observed in one individual in a pool of samples from West Timor (n=497); the pertinent individual is from Umaklaran, located on the north side of the island of Timor near the border with
East Timor.[36]
According to
Mitsuru Sakitani, haplogroup D1 arrived from Central Asia to northern
Kyushu via the
Altai Mountains and the
Korean Peninsula more than 40,000 years ago, and haplogroup D-M55 (D1a2a) was born in the Japanese archipelago.[37]
D1b (L1378, M226.2) has been found in commercial testing in two families from
Mactan Island in the
Cebu region of the
Philippines, in the ethnic
Rade people from
Vietnam as well as an ancient sample from Malaysia.[39]
D-M174*
D-M174 (xM15,P99,M55) is found in some Tibetan minority tribes in
Northeast India (among whom rates vary from 0% to 65%).[5][40][41][42]
The basal D-M174 (xM15, P47, M55) has been found in approximately 5% of
Altaians.[17] Kharkov et al. found haplogroup D*(xD-M15) in 6.3% (6/96) of a pool of samples of Southern Altaians from three different localities, particularly in
Kulada (5/46 = 10.9%) and
Kosh-Agach (1/7 = 14%), though they did not test for any marker of the subclade D-M55 or D-P99. Kharkov et al. also reported finding haplogroup DE-M1(xD-M174) Y-DNA in one Southern Altaian individual from
Beshpeltir (1/43 = 2.3%).[18]
In 2023 found in one Individual in North America, Ramon Moses, Lacrosse, Wi, USA. D-M174.[43]
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, major research groups came together and formed the
Y Chromosome Consortium (YCC). They published a joint paper that created a single new tree. Later, a group of citizen scientists with an interest in population genetics and genealogy formed a working group to create an amateur tree. 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.
^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.
PMID24166809.
S2CID23291764.
^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.;
YFull YTree v5.08, 2017, "K-M2335", and;
PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
^
abSu B, Xiao C, Deka R, Seielstad MT, Kangwanpong D, Xiao J, Lu D, Underhill P, Cavalli-Sforza L, Chakraborty R, Jin L (December 2000). "Y chromosome haplotypes reveal prehistorical migrations to the Himalayas". Human Genetics. 107 (6): 582–90.
doi:
10.1007/s004390000406.
PMID11153912.
S2CID36788262.
^Xu, Dan; Li, Hui (5 May 2017).
Languages and Genes in Northwestern China and Adjacent Regions. Springer. p. 25.
ISBN978-981-10-4169-3. "For the origin of haplogroup D, Chandrasekar et al. (2007) suggested that the CT-M168 gave rise to the YAP insertion and D-M174 mutation in South Asia based on their findings of the YAP insertion in northeast Indian tribes and the D-M174 in South Asia and the D-M174 in Andaman islanders."
^
abMondal, Mayukh; Bergström, Anders; Xue, Yali; Calafell, Francesc; Laayouni, Hafid; Casals, Ferran; Majumder, Partha P.; Tyler-Smith, Chris; Bertranpetit, Jaume (2017-05-01). "Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese". Human Genetics. 136 (5): 499–510.
doi:
10.1007/s00439-017-1800-0.
hdl:10230/34399.
ISSN1432-1203.
PMID28444560.
S2CID3725426. In contrast, the Riang (Tibeto-Burman-speaking) and Andamanese have their nearest neighbour lineages in East Asia. The Jarawa and Onge shared haplogroup D lineages with each other within the last ~7000 years, but had diverged from Japanese haplogroup D Y-chromosomes ~53000 years ago, most likely by a split from a shared ancestral population.
^
abPark MJ, Lee HY, Yang WI, Shin KJ (July 2012). "Understanding the Y chromosome variation in Korea--relevance of combined haplogroup and haplotype analyses". International Journal of Legal Medicine. 126 (4): 589–99.
doi:
10.1007/s00414-012-0703-9.
PMID22569803.
S2CID27644576.
^
abcdKatoh T, Munkhbat B, Tounai K, Mano S, Ando H, Oyungerel G, Chae GT, Han H, Jia GJ, Tokunaga K, Munkhtuvshin N, Tamiya G, Inoko H (February 2005). "Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis". Gene. 346: 63–70.
doi:
10.1016/j.gene.2004.10.023.
PMID15716011.
^
abcKhar'kov VN, Stepanov VA, Medvedeva OF, Spiridonova MG, Voevoda MI, Tadinova VN, Puzyrev VP (May 2007). "[Gene pool differences between northern and southern Altaians inferred from the data on Y-chromosomal haplogroups]". Genetika (in Russian). 43 (5): 675–87.
doi:
10.1134/S1022795407050110.
PMID17633562.
S2CID566825.
^E. E. Ashirbekov, D. M. Botbaev, A. M. Belkozhaev, A. O. Abayldaev, A. S. Neupokoeva, J. E. Mukhataev, B. Alzhanuly, D. A. Sharafutdinova, D. D. Mukushkina, M. B. Rakhymgozhin, A. K. Khanseitova, S. A. Limborska, and N. A. Aytkhozhina, "Distribution of Y-Chromosome Haplogroups of the Kazakh from the South Kazakhstan, Zhambyl, and Almaty Regions." Reports of the National Academy of Sciences of the Republic of Kazakhstan,
ISSN2224-5227, Volume 6, Number 316 (2017), 85 - 95.
^DONG Yongli, SHI Hong, LI Weixiang, YANG Jie, ZENG Weimin, LI Kaiyuan, and XIAO Chunjie, "Study of polymorphism at the YAP locus in seven Yunnan ethnic minority populations in the great gorge of the Salween River and downstream areas" (original title in Chinese: "怒江大峡谷及下游地区7个云南少数民族YAP位点的多态性研究"), Acta Anthropologica Sinica, Vol. 21, No. 3 (August, 2002).
http://www.ivpp.cas.cn/cbw/rlxxb/xbwzxz/201203/t20120320_3512811.html
^Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonné-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner PJ (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–61.
doi:
10.1038/81685.
PMID11062480.
S2CID12893406.
Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; et al. (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–361.
doi:
10.1038/81685.