Human Y-DNA phylogeny and haplogroup distribution.[1](a)Phylogenetic tree. 'kya' means 'thousand years ago'. (b) Geographical distributions of haplogroups are shown in color. (c) Geographical color legend.
Inhuman genetics, ahuman Y-chromosome DNA haplogroup is ahaplogroup defined by specificmutations in the non-recombining portions ofDNA on the male-specificY chromosome (Y-DNA). Individuals within a haplogroup share similar numbers ofshort tandem repeats (STRs) andsingle-nucleotide polymorphisms (SNPs).[2] The Y-chromosome accumulates approximately two mutations per generation,[3] and Y-DNA haplogroups represent significant branches of the Y-chromosomephylogenetic tree, each characterized by hundreds or even thousands of unique mutations.
The Y-chromosomal most recent common ancestor (Y-MRCA), often referred to asY-chromosomal Adam, is themost recent common ancestor from whom all currently living humans are descendedpatrilineally. Y-chromosomal Adam is estimated to have lived around 236,000 years ago in Africa[citation needed]. By examining otherpopulation bottlenecks, mostEurasian men trace their descent from a man who lived in Africa approximately 69,000 years ago (Haplogroup CT). Although Southeast Asia has been proposed as the origin for all non-African human Y chromosomes,[4] this hypothesis is considered unlikely.[5] Other bottlenecks occurred roughly 50,000 and 5,000 years ago, and the majority of Eurasian men are believed to be descended from four ancestors who lived 50,000 years ago, all of whom were descendants of an African lineage (Haplogroup E-M168).[6][7][8]
Schematic illustration of Y-DNA haplogroups naming convention. Haplogroups are defined through mutations (SNPs).
Y-DNA haplogroups are defined by the presence of a series of Y-DNAsingle-nucleotide polymorphismsgenetic markers.Subclades are defined by aterminal SNP, the SNP furthest down in the Y-chromosome phylogenetic tree.[9][10] TheY Chromosome Consortium (YCC) developed a system of naming major Y-DNA haplogroups with the capital letters A through T, with further subclades named using numbers and lower case letters (YCC longhandnomenclature). YCC shorthand nomenclature names Y-DNA haplogroups and their subclades with the first letter of the major Y-DNA haplogroup followed by a dash and the name of the defining terminal SNP.[11]
Y-DNA haplogroup nomenclature is changing over time to accommodate the increasing number of SNPs being discovered and tested, and the resulting expansion of the Y-chromosome phylogenetic tree. This change in nomenclature has resulted in inconsistent nomenclature being used in different sources.[2] This inconsistency, and increasingly cumbersome longhand nomenclature, has prompted a move toward using the simpler shorthand nomenclature.[12]
Haplogroup A is the NRY (non-recombining Y) macrohaplogroup from which all modern paternal haplogroups descend. It is sparsely distributed in Africa, being concentrated amongKhoisan populations in the southwest andNilotic populations toward the northeast in theNile Valley. BT is a subclade of haplogroup A, more precisely of the A1b clade (A2-T in Cruciani et al. 2011), as follows:
The defining mutations separating CT (all haplogroups except for A and B) are M168 and M294. The site of origin is likely in Africa. Its age has been estimated at approximately 88,000 years old,[14][15] and more recently at around 100,000[16] or 101,000 years old.[17]
Haplogroup C1b1a2a (B67)Found amongLebbo' people in Borneo, Indonesia
Haplogroup C1b1a2b (F725)Found among Han Chinese (Guangdong, Hunan, and Shaanxi), Dai people (Yunnan), Murut people (Brunei), Malay people (Singapore), and Aeta people (Philippines)
Haplogroup C1b1a3 (Z16582)Found with low frequency in Saudi Arabia and Iraq
The groups descending from haplogroup F are found in some 90% of the world's population, but almost exclusively outside of sub-Saharan Africa.
F xG,H,I,J,K is rare in modern populations and peaks inSouth Asia, especiallySri Lanka.[13] It also appears to have long been present inSouth East Asia; it has been reported at rates of 4–5% inSulawesi andLembata. One study, which did not comprehensively screen for other subclades of F-M89 (including some subclades of GHIJK), found that Indonesian men with theSNP P14/PF2704 (which is equivalent to M89), comprise 1.8% of men inWest Timor, 1.5% ofFlores 5.4% ofLembata 2.3% ofSulawesi and 0.2% inSumatra.[18][19] F* (F xF1,F2,F3) has been reported among 10% of males in Sri Lanka andSouth India, 5% in Pakistan, as well as lower levels among theTamang people (Nepal), and inIran. F1 (P91), F2 (M427) and F3 (M481; previously F5) are all highly rare and virtually exclusive to regions/ethnic minorities in Sri Lanka, India, Nepal,South China,Thailand,Burma, andVietnam. In such cases, however, the possibility of misidentification is considered to be relatively high and some may belong to misidentified subclades ofHaplogroup GHIJK.[20]
Haplogroup G (M201) originated some 48,000 years ago and its most recent common ancestor likely lived 26,000 years ago in the Middle East. It spread to Europe with theNeolithic Revolution.
Haplogroup H (M69) probably emerged inSouthern Central Asia,South Asia orWest Asia, about 48,000 years BP, and remains largely prevalent there in the forms of H1 (M69) and H3 (Z5857). Its sub-clades are also found in lower frequencies in Iran, Central Asia, across the middle-east, and the Arabian peninsula.
However, H2 (P96) is present in Europe since the Neolithic and H1a1 (M82) spread westward in theMedieval era with the migration of theRoma people.
This sectionneeds expansion. You can help byadding to it.(September 2016)
Haplogroup I1 (M253) Found mainly in northern Europe
Haplogroup I2 (P215) Found mainly in Balkans, southeast Europe and Sardinia save for I2B1 (m223) which is found at a moderate frequency in Western, Central, and Northern Europe.
The only living males reported to carry the basalparagroup K2* areindigenous Australians. Major studies published in 2014 and 2015 suggest that up to 27% ofAboriginal Australian males carry K2*, while others carry a subclade of K2.
This sectionneeds expansion. You can help byadding to it.(September 2016)
Haplogroup N possibly originated in eastern Asia and spread both northward and westward intoSiberia, being the most common group found in someUralic-speaking peoples.
Haplogroup P (P295) has two primary branches:P1 (P-M45) and the extremely rareP2 (P-B253).[24]
P*, P1* and P2 are found together only on the island ofLuzon in thePhilippines.[24] In particular, P* and P1* are found at significant rates among members of theAeta (or Agta) people of Luzon.[25] While, P1* is now more common among living individuals inEastern Siberia andCentral Asia, it is also found at low levels in mainlandSouth East Asia andSouth Asia. Considered together, these distributions tend to suggest that P* emerged from K2b in South East Asia.[25][26]
Q is defined by the SNP M242. It is believed to have arisen inCentral Asia approximately 32,000 years ago.[27][28] The subclades of Haplogroup Q with their defining mutation(s), according to the 2008ISOGG tree[29] are provided below. ss4 bp, rs41352448, is not represented in the ISOGG 2008 tree because it is a value for an STR. This low frequency value has been found as a novel Q lineage (Q5) in Indian populations[30]
The hypothetical divergence of Haplogroup R and its descendants.
Haplogroup R is defined by the SNP M207. The bulk ofHaplogroup R is represented in the descendant subcladeR1 (M173), which originated inSiberia. R1 has two descendant subclades:R1a andR1b.
Haplogroup R1b is the dominant haplogroup of Western Europe and is also found sparsely distributed among various peoples ofAsia andAfrica. Its subclade R1b1a2 (M269) is the haplogroup that is most commonly found among modern Western European populations, and has been associated with theItalo-Celtic andGermanic peoples.
Haplogroup R1 (M173)Found throughout western Eurasia
Haplogroup R1a (M420)Found in Central Asia, South Asia, and Central, Northern and Eastern Europe, Balkans
^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.
^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: Poznikop. 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 M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
^Karmin; et al. (2015)."A recent bottleneck of Y chromosome diversity coincides with a global change in culture".Genome Research.25 (4):459–66.doi:10.1101/gr.186684.114.PMC4381518.PMID25770088. "we date the Y-chromosomal most recent common ancestor (MRCA) in Africa at 254 (95% CI 192–307) kya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47–52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males."
^"Something Weird Happened to Men 7,000 Years Ago, And We Finally Know Why". 31 May 2018.Around 7000 years ago - all the way back in the Neolithic - something really peculiar happened to human genetic diversity. Over the next 2,000 years, and seen across Africa, Europe and Asia, the genetic diversity of the Y chromosome collapsed, becoming as though there was only one man for every 17 women.
^Underhill and Kivisild; Kivisild, T (2007). "Use of Y Chromosome and Mitochondrial DNA Population Structure in Tracing Human Migrations".Annu. Rev. Genet.41 (1):539–64.doi:10.1146/annurev.genet.41.110306.130407.PMID18076332.
^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):583–92.doi:10.1016/j.ajhg.2007.11.013.PMC2427228.PMID18313026. Archived fromthe original(PDF) on 25 March 2009. Retrieved22 May 2013.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
^abP.A. Underhill, N.M. Myres, S. Rootsi, C.T. Chow, A.A. Lin, R.P. Otillar, R. King, L.A. Zhivotovsky, O. Balanovsky, A. Pshenichnov, K.H. Ritchie, L.L. Cavalli-Sforza, T. Kivisild, R. Villems, S.R. Woodward, New Phylogenetic Relationships for Y-chromosome Haplogroup I: Reappraising its Phylogeography and Prehistory, in P. Mellars, K. Boyle, O. Bar-Yosef and C. Stringer (eds.), Rethinking the Human Evolution (2007), pp. 33–42.
"Y-Haplogroup A Phylogenetic Tree". March 2013. Archived fromthe original on 18 August 2018. Retrieved30 March 2013. (chart highlighting new branches added to the A phylotree in March 2013)
Semino O, Passarino G, Oefner PJ, et al. (November 2000). "The genetic legacy of PaleolithicHomo sapiens sapiens in extant Europeans: a Y chromosome perspective".Science.290 (5494):1155–59.Bibcode:2000Sci...290.1155S.doi:10.1126/science.290.5494.1155.PMID11073453. AsPDF Paper that defined "Eu" haplogroups
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