The date of origin for haplogroupJ-M172 was estimated byBatini et al in 2015 as between 19,000 and 24,000 years before present (BP).[28]Samino et al in 2004 dated the origin of the parent haplogroup,J-P209, to between 18,900 and 44,500 YBP.[13] AncientJ-M410, specifically subclade J-Y12379*, has been found, in aMesolithic context, in a tooth from the Kotias Klde Cave in westernGeorgia from the Late Upper Palaeolithic (13,300 years old) and the Mesolithic (9,700 years old)[29] This sample has been assigned to theCaucasus hunter-gatherers (CHG) autosomal component.[30] J-M410, more specifically its subcladeJ-PF5008, has also been found in aMesolithic sample from theHotu and Kamarband Caves located inMazandaran Province ofIran, dating back to 9,100-8,600 B.C.E (approximately 11,000 ybp).[31] Both samples belong to theTrialetian Culture.It is likely that J2 men had settled over most of Anatolia, the South Caucasus and the Zagros mountains by the end of the Last Glaciation 12,000 years ago.[32]
Di Giacomo et al. (2004) postulated that J-M172 haplogroup spread into Southern Europe from either theLevant orAnatolia, likely parallel to the development of agriculture.[2] As to the timing of its spread into Europe, Di Giacomo et al. points to events whichpost-date the Neolithic, in particular the demographic floruit associated with the rise of the Ancient Greek world.Semino et al. (2004) derived older age estimates for overall J2(having used the Zhivotovsky method c.f. Di Giacomo)[clarify], postulating its initial spread with Neolithic farmers from the Near East. However, its subclade distribution, showing localized peaks in the Southern Balkans, southern Italy, north/central Italy and the Caucasus, does not conform to a single 'wave-of-advance' scenario, betraying a number of still poorly understood post-Neolithic processes which created its current pattern. Like Di Giacomo et al., the Bronze Age southern Balkans was suggested by Semino et al. to have been an important vector of spread.[13]
Haplogroup J2 is found with low frequencies in North Africa with a hotspot in Sousse region, most ofSousse samples have the samehaplotypes found in Haplogroup J-L271 which was found inMsaken.[41]
J-M172 is found at moderate frequencies among Central Asian people such asUyghurs,Uzbeks,Turkmens,Tajiks,Kazakhs, andYaghnobis. According to the genetic study in Northwest China by Shou et al. (2010), a notable high frequency of J-M172 is observed particularly in Uyghurs 34% and Uzbeks 30.4% inXinjiang,China. Liu Shuhu et al. (2018) found J2a1 (L26/Page55/PF5110/S57, L27/PF5111/S396) in 43.75% (28/64) and J2a2 (L581/S398) in 14.06% (9/64) of a sample of Lop Uyghurs from Qarchugha Village of Yuli (Lopnur) County, Xinjiang, J2a1b1 (M92, M260/Page14) in 25.64% (10/39) of a sample of Keriyan Uyghurs from Darya Boyi Village of Yutian (Keriya) County, Xinjiang, and J2a1 (L26/Page55/PF5110/S57, L27/PF5111/S396) in 3.95% (3/76) and J2a2 (L581/S398) in 3.95% (3/76) of a sample of Dolan Uyghurs from Horiqol Township of Awat County, Xinjiang.[42] Only far northwestern ethnic minorities had haplogroup J in Xinjiang, China. Uzbeks in the sample had 30.4% J2-M172 andTajiks of Xinjiang and Uyghurs also had it.[10]
The haplogroup has an ancient presence in Central Asia and seems to have preceded the spread of Islam.[10] In addition, the immediate ancestor of J-M172, namelyJ* (J-M304*, a.k.a. J-P209*, J-12f2.1*) is also found amongXibo,Kazakh,Dongxiang andUzbek people in Northwest China.
In 2015, two ancient samples belonging to J-M172 or J-M410 (J2a) were found at two differentarchaeological sites inAltai, easternRussia: Kytmanovo and Sary-bel kurgan. Both of the ancient samples are related toIron Age cultures in Altai. Sary-bel J2/J2a is dated to 50 BC whereas Kytmanovo sample is dated to 721-889 AD. Genetic admixture analysis of these samples also suggests that the individuals were more closely related toWest Eurasians than otherAltaians from the same period, although they also seem to be related to present-dayTurkic peoples of the region.[43][44][45]
InEurope, the frequency of Haplogroup J-M172 drops as one moves northward away from theMediterranean. InItaly, J-M172 is found with regional frequencies ranging between 9% and 36%.[21] InGreece, it is found with regional frequencies ranging between 10% and 48%. Approximately 24% of Turkish men are J-M172,[14] with regional frequencies ranging between 13% and 40%.[15] Combined withJ-M267, up to half of the Turkish population belongs toHaplogroup J-P209.
It has been proposed that haplogroup subclade J-M410 was linked to populations on ancient Crete by examining the relationship betweenAnatolian,Cretan, andGreek populations from around early Neolithic sites in Crete. Haplogroup J-M172 was associated withNeolithicGreece (ca. 8500 - 4300 BCE) and was reported to be found in modern Crete (3.1%) and mainland Greece (Macedonia 7.0%,Thessaly 8.8%,Argolis 1.8%).[46]
Sephardi Jews have about 15%[12]-29%,[13] of haplogroup J-M172, and Ashkenazi Jews have 15%[24]-23%.[13] It was reported in an early study which tested only four STR markers that a small sample of ItalianCohens belonged to Network 1.2, an early designation for the overall clade now known as J-L26, defined by the deletion at DYS413.[49] However, a large number of all Jewish Cohens in the world belong to haplogroupJ-M267 (seeCohen modal haplotype).
Haplogroup J-M172 has been shown to have a more northern distribution in the Middle East, although it exists in significant amounts in the southern middle-east regions, a lesser amount of it was found when compared to its brother haplogroup, J-M267, which has a high frequency southerly distribution. It was believed that the source population of J-M172 originated from the Levant/Syria (Syrid-J-M172), and that its occurrence among modern populations of Europe, Central Asia, and South Asia was a sign of the Neolithic agriculturalists. However, as stated it is now believed more likely to have been spread in waves, as a result of post-Neolithic processes .
Haplogroup J2 has been present inSouth Asia mostly as J2a-M410 and J2b-M102, since Neolithic times (9500 YBP).[50][51]J2-M172 was found to be significantly higher amongDravidian castes at 19% than amongIndo-Aryan castes at 11%. J2-M172 and J-M410 is found 21% amongDravidian middle castes, followed by upper castes, 18.6%, and lower castes 14%.[52] Among caste groups, the highest frequency of J2-M172 was observed among TamilVellalars of South India, at 38.7%.[52] J2 is present in Indian tribals too and has a frequency of 11% in Austro-Asiatic tribals. Among the Austro-Asiatic tribals, the predominantJ2 occurs in theAsur tribe (77.5%) albeit with a sample size of 40[50] and in theLodha (35%) ofWest Bengal.[52] J2 is also present in the South Indianhill tribeToda at 38.46% albeit with a sample size of only 26,[53] in theAndh tribe ofTelangana at 35.19%,[54] in theNarikuravar tribe at 57.9%[50] and in theKol tribe ofUttar Pradesh at a frequency of 33.34%.[55] Haplogroup J-P209 was found to be more common in India'sShia Muslims, of which 28.7% belong to haplogroup J, with 13.7% in J-M410, 10.6% in J-M267 and 4.4% in J2b.[26]
J2-M172 is found at an overall frequency of 16.1% in the people ofSri Lanka.[58] In Maldives, 22% of Maldivian population were found to be haplogroup J2 positive.[59] Subclades of M172 such as M67 and M92 were not found in either Indian or Pakistani samples which also might hint at a partial common origin.[52]
HaplogroupJ-M172 is subdivided into two complementary sub-haplogroups:J-M410, defined by theM410genetic marker, andJ-M12, defined by theM12 genetic marker.
J-M67 (called J2f in older papers) has its highest frequencies associated withNakh peoples. Found at very high (majority) frequencies among Ingush in Malgobek (87.4%), Chechens in Dagestan (58%), Chechens in Chechnya (56.8%) and Chechens in Malgobek, Ingushetia (50.9%).[3] In the Caucasus, it is found at significant frequencies among Georgians (13.3%),[13] Iron Ossetes (11.3%), South Caucasian Balkars (6.3%),[13] Digor Ossetes (5.5%), Abkhaz (6.9%), and Cherkess (5.6%).[3] It is also found at notable frequencies in the Mediterranean and Middle East, including Cretans (10.2%), North-central Italians (9.6%), Southern Italians (4.2%; only 0.8% among N. Italians), Anatolian Turks (2.7-5.4%), Greeks (4-4.3%), Albanians (3.6%), Ashkenazi Jews (4.9%), Sephardis (2.4%), Catalans (3.9%), Andalusians (3.2%), Calabrians (3.3%), Albanian Calabrians (8.9%).[2][13]
J-M92/M260, a subclade of J-M67, has been observed in 25.64% (10/39) of a sample of Keriyan Uyghurs from Darya Boyi Village of Yutian (Keriya) County, Xinjiang.[42] This Uyghur village is located in a remote oasis in theTaklamakan Desert.
In Y-chromosome phylogenetics,subclades are the branches of haplogroups. These subclades are also defined by single nucleotide polymorphisms (SNPs) or unique event polymorphisms (UEPs).
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, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being above all timely. 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.
There are several confirmed and proposed phylogenetic trees available for haplogroup J-M172. The scientifically accepted one is the Y-Chromosome Consortium (YCC) one published inKarafet et al. (2008) and subsequently updated. A draft tree that shows emerging science is provided by Thomas Krahn at the Genomic Research Center inHouston, Texas. The International Society of Genetic Genealogy (ISOGG) also provides an amateur tree.[Phylogenetics 3][69]
This is Thomas Krahn at the Genomic Research Center's draft treeProposed Tree for haplogroup J-M172.[70] For brevity, only the first three levels of subclades are shown.
This is the official scientific tree produced by the Y-Chromosome Consortium (YCC). The last major update was in 2008.[71] Subsequent updates have been quarterly and biannual. The current version is a revision of the 2010 update.[72]
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Below are thesubclades of Haplogroup J-M172 with their defining mutation, according to the ISOGG tree as of January 2020[update].[73] Note that the descent-based identifiers may be subject to change, as new SNPs are discovered that augment and further refine the tree. For brevity, only the first three levels of subclades are shown.
^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.)
^"The extent of differentiation of Hg J, observed both with the biallelic and microsatellite markers, points to the Middle East as its likely homeland. In this area, J-M172 and J-M267 are equally represented and show the highest degree of internal variation, indicating that it is most likely that these subclades also arose in the Middle East."[2]
^A genetic study on Kalash individuals found high and diverse frequencies.[27]
^Only 37 of 154 samples (24%) are J2 in Iraq.[47] 43.6% is the frequency of J2 among all J haplogroup Iraqis, not all haplogroups.
^"The most abundant haplogroups in Saudi Arabia, J1-M267 (42%), J2-M172 (14%), E1-M2 (8%), R1-M17 (5%) and K2-M184 (5%) are also well represented in other Arabian populations (Table 1)."[40]
^Immanuel F."Ancient DNA".Genetic Genealogy Tools. Archived fromthe original on 2015-09-05. F999962 for RISE504, Kytmanovo sample, and F999965 for RISE602, Sary-bel sample.
^"Y-DNA Haplotree".Archived from the original on 2013-01-27. Retrieved2013-01-05.Family Tree DNA uses the Y-Chromosome Consortium tree and posts it on their website.
Underhill PA, Shen P, Lin AA, Jin L, et al. (November 2000). "Y chromosome sequence variation and the history of human populations".Nature Genetics.26 (3):358–361.doi:10.1038/81685.PMID11062480.S2CID12893406.
Behar, Doron M.; Garrigan, Daniel; Kaplan, Matthew E.; Mobasher, Zahra; Rosengarten, Dror; Karafet, Tatiana M.; et al. (1 March 2004). "Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations".Human Genetics.114 (4):354–365.doi:10.1007/s00439-003-1073-7.PMID14740294.S2CID10310338.
Capelli C, Brisighelli F, Scarnicci F, Arredi B, Caglia' A, Vetrugno G, et al. (2007). "Y chromosome genetic variation in the Italian peninsula is clinal and supports an admixture model for the Mesolithic–Neolithic encounter".Molecular Phylogenetics and Evolution.44 (1):228–39.Bibcode:2007MolPE..44..228C.doi:10.1016/j.ympev.2006.11.030.PMID17275346.
Cinnioğlu C, King R, Kivisild T, Kalfoğlu E, Atasoy S, Cavalleri GL, et al. (2004). "Excavating Y-chromosome haplotype strata in Anatolia".Human Genetics.114 (2):127–48.doi:10.1007/s00439-003-1031-4.PMID14586639.S2CID10763736.
Di Giacomo F, Luca F, Anagnou N, Ciavarella G, Corbo RM, Cresta M, et al. (2003). "Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects".Molecular Phylogenetics and Evolution.28 (3):387–395.Bibcode:2003MolPE..28..387D.doi:10.1016/S1055-7903(03)00016-2.PMID12927125.
Di Giacomo F, Luca F, Popa LO, Akar N, Anagnou N, Banyko J, et al. (2004). "Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe".Human Genetics.115 (5):357–371.doi:10.1007/s00439-004-1168-9.PMID15322918.S2CID18482536.
King RJ, Ozcan SS, Carter T, Kalfoğlu E, Atasoy S, Triantaphyllidis C, et al. (2008). "Differential Y-chromosome Anatolian Influences on the Greek and Cretan Neolithic".Annals of Human Genetics.72 (2):205–14.doi:10.1111/j.1469-1809.2007.00414.x.PMID18269686.S2CID22406638.
Nasidze I, Sarkisian T, Kerimov A, Stoneking M (2003). "Testing hypotheses of language replacement in the Caucasus: evidence from the Y-chromosome".Human Genetics.112 (3):255–61.doi:10.1007/s00439-002-0874-4.PMID12596050.S2CID13232436.
Regueiro M, Cadenas AM, Gayden T, Underhill PA, Herrera RJ (2006). "Iran: Tricontinental Nexus for Y-Chromosome Driven Migration".Human Heredity.61 (3):132–143.doi:10.1159/000093774.PMID16770078.S2CID7017701.
Robino C, Crobu F, Di Gaetano C, Bekada A, Benhamamouch S, Cerutti N, et al. (2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample".International Journal of Legal Medicine.122 (3):251–255.doi:10.1007/s00414-007-0203-5.PMID17909833.S2CID11556974.
Shen P, Lavi T, Kivisild T, Chou V, Sengun D, Gefel D, et al. (2004). "Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-Chromosome and mitochondrial DNA sequence Variation".Human Mutation.24 (3):248–60.doi:10.1002/humu.20077.PMID15300852.S2CID1571356.
Vadimovna, Trofimova Natalia (2015).Variability of mitochondrial dna and y-chromosome in populations of the volga-ural region. 03.02.07 (dissertation) (in Russian). Federal State Budgetary Institution of Science; Institute of Biochemistry and Genetics; UFA Scientific Center of the Russian Academy Of Sciences.
King R, Underhill PA (2002). "Congruent distribution of Neolithic painted pottery and ceramic figurines with Y-chromosome lineages".Antiquity.76 (293):707–714.doi:10.1017/s0003598x00091158.S2CID160359661.
Renfrew AC (1998).Archaeology and language: the puzzle of Indo-European origins (Pimlico ed.). London: Pimlico.ISBN978-0-7126-6612-1.
^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.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.)
^This table shows the historic names for J-M172 in published peer reviewed literature. Note that in Semino 2000 Eu09 is a subclade of Eu10 and in Karafet 200124 is a subclade of23.
YCC 2002/2008 (Shorthand)
J-M172
Jobling & Tyler-Smith 2000
9
Underhill 2000
VI
Hammer 2001
Med
Karafet 2001
24
Semino 2000
Eu9
Su 1999
H4
Capelli 2001
B
YCC 2002 (Longhand)
J2*
YCC 2005 (Longhand)
J2
YCC 2008 (Longhand)
J2
YCC 2010r (Longhand)
J2
^This table shows the historic names for J-P209 (AKA J-12f2.1 or J-M304) in published peer reviewed literature. Note that in Semino 2000 Eu09 is a subclade of Eu10 and in Karafet 200124 is a subclade of23.