Although the present-day frequency of G1 is low across its spread zone, the expansion time estimate (Supplementary Table S4) of 192716158 years attests to considerable antiquity. In contrast to its widely dispersed sister clade defined by P303, hg G-M406 has a peak frequency in Cappadocia, Mediterranean Anatolia and Central Anatolia (67%) and it is not detected in most other regions with considerable P303 frequency. Proc Natl Acad Sci USA 2011; 108: 97889791. Because SNPs provide the most reliable method of categorization, each is allowed to represent an official G category. Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. An assessment of the Y-chromosome phylogeography-based proposal that the spread of G2a-L497 chromosomes originated from Central Europe could be achieved by typing this SNP in the Holocene period human remains from Germany31 as well as those from France and Spain.45, 46 Certainly, Y chromosome represents only a small part of human genome and any population-level interpretation of gene flow in this region would have to be supported by genome-wide evidence. There are additional subclades of DYS388=13 men characterized by the presence of specific SNPs or uncommon STR marker oddities. The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations. The highest frequencies of haplogroup G appear in the Caucasus region; however it also shows significant frequencies in the Mediterranean areas and the Middle East [69,70]. The authors declare no conflict of interest. Supplementary Information accompanies the paper on European Journal of Human Genetics website, Rootsi, S., Myres, N., Lin, A. et al. These are found at: rs9786910, rs9786537, rs2713254, rs35567891 and rs34621155 on the Y chromosome. Hum Genet 2009; 126: 707717. [39], Haplogroup G-M377 has been found at a frequency of 60% out of a sample of five Pashtuns in the Wardak region of Afghanistan. Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians. The G2 clade consists of one widespread but relatively infrequent collection of P287*, M377, M286 and M287 chromosomes versus a more abundant assemblage consisting of G2a-related P15*, P16 and M485-related lineages. The G-P303 phylogenetic network was constructed using 248 G2a3b-P303-derived 19-locus haplotypes from populations representing Europe, Middle/Near East, South/Central Asia and the Caucasus and belonging to five sub-clades P303*, U1, M527, M426 and L497. Am J Hum Genet 2008; 82: 236250. Ann Hum Genet 2004; 68: 588599. We emphasize that our assessments are based solely on contemporary DNA distributions rather than actual prehistoric patterns. Ancient DNA reveals male diffusion through the Neolithic Mediterranean route. In Russia, Ukraine and Central Asia, members of various ethnic minorities and/or residents in particular localities possess G-M201 at its highest levels in the world even though the average rate at the national level is about 1% or less. [citation needed] volume20,pages 12751282 (2012)Cite this article. The G-M286 subclade (M286+) is small compared with G-L91. Thus inferences regarding migratory histories must be viewed cautiously, as diversities may have changed over the time spans discussed. Cinnioglu C, King R, Kivisild T et al. and JavaScript. Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau. [42] The technical specifications of M201 are given as: refSNPid is rs2032636..Y chromosome location of 13536923.forward primer is tatgcatttgttgagtatatgtc..reverse primer is gttctgaatgaaagttcaaacg..the mutation involves a change from G to T. A number of SNPs have been identified with seemingly the same coverage in the population as M201. G is found mostly in the north central Middle East and the Caucasus, with smaller numbers around the Mediterranean and eastward. The first principal component separates the populations of the Caucasus from those of Europe, with the Near/Middle Eastern populations being intermediate (Figure 3a). Thus, G2a3a-M406, along with other lineages, such as J2a3b1-M92 and J2a4h2-DYS445=616, may track the expansion of the Neolithic from Central/Mediterranean Anatolia to Greece/Italy and Iran. In 2012, SNPs with the Z designation as first identified by citizen researchers from 1000 Genomes Project data began to appear. The haplogroups contain many branches called subhaplogroups or subclades. P257 was first reported in 2008. . Haplogroup G is observed in this survey as G1-M285 and G2a-P15. G2a2b2a is also found in India. The Madjar and Argyn tribes (or clans) of Kazakhstan were found to possess the highest levels of G-M201 among any modern ethnic group. Interestingly, the L30 SNP, phylogenetically equivalent to M485, M547 and U8, was detected in an approximately 7000-year-old Neolithic specimen from Germany, although this ancient DNA sample was not resolved further to additional sub-clade levels.39. The next largest subclade of G-P303 is characterized by the presence of the U1 mutation. We genotyped binary markers following PCR amplification, by either Denaturing High Performance Liquid Chromatography, RFLP analysis, Taqman assay (Applied Biosystems, Foster City, CA, USA) or direct Sanger sequencing methodology. Haplogroup L2b1a is a branch on the maternal tree of human kind. In Europe west of the Black Sea, Haplogroup G is found at about 5% of the population on average throughout most of the continent. The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations. The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective. In human genetics, Haplogroup G-P303 ( G2a2b2a, [2] formerly G2a3b1) is a Y-chromosome haplogroup. PubMed Age So far the men positive for this have had Irish, English, Dutch, Lebanese and/or Turkish (Armenian surname) ancestry. Genomics 1999; 57: 433437. The new phylogenetic and phylogeographic information provides additional insights into the demographic history and migratory events in Eurasia involving hg G. The present study comprises data from 98 populations totaling 17577 individuals, of which 1472 were members of hg G. The haplogroup frequency data are presented in Supplementary Table S1. In addition, we introduce five new markers: M426, M461, M485, M527 and M547 (Supplementary Table S2). The presence of the SNP P18 mutation characterizes G2a1a's only subclade, G2a1a. Haplogroup G men who belong to this group, but are negative for all G2a subclades, are uncommon in Europe but may represent a sizeable group in so far poorly tested areas east of Turkey. Achilli A, Olivieri A, Pala M et al. Pericic M, Lauc LB, Klaric IM, Janicijevic B, Rudan P : Review of croatian genetic heritage as revealed by mitochondrial DNA and Y chromosomal lineages. The International Society of Genetic Genealogy (ISOGG) maintains the most up-to-date consensus version of haplogroup categories. Moreover, the accuracy and validity of the evolutionary rate has been independently confirmed in several deep-rooted Hutterite pedigrees.34 Furthermore pedigree rate-based estimates cannot be substantiated, as they are often inconsistent with dateable archeological knowledge, for example, as clearly illustrated regarding the peopling of the Americas.35 Coalescent times based on 10 STR loci (DYS19, DYS388, DYS389I, DYS389b, DYS390, DYS391, DYS392, DYS393, DYS439, DYS461-TAGA counts) and the median haplotypes of specific hg G sub-haplogroups are presented in Supplementary Table S4. However, interpretations based on coarse haplogroup resolution frequency clines are unsophisticated and do not recognize underlying patterns of genetic diversification. In the Greek island of Crete, approximately 7%[18] to 11%[19] of males belong to haplogroup G. [23] About 6% of the samples from Sri Lanka and Malaysia were reported as haplogroup G, but none were found in the other coastal lands of the Indian Ocean or Pacific Ocean in Asia. Int J Legal Med 1997; 110: 134149. G-M201 is most commonly found among various ethnic groups of the Caucasus, but is also widely distributed at low frequencies among ethnic groups throughout Europe, South Asia, Central Asia, and North Africa. G-PF3147 (previously G-L223 and G-PF3146) is characterized by having the L223 mutation. A separate study on the Argyns found that 71% of males belong to G1. Haplogroup G2a (G-P15) has been identified in Neolithic human remains in Europe dating between 5000 and 3000 BC. G-M377, now also known as G2b1, has previously been designated G2b and G2c. It is not found among Native Americans except where intermarriage with non-native persons has occurred. [8][9], Furthermore, the majority of all the male skeletons from the European Neolithic period have so far yielded Y-DNA belonging to this haplogroup. For the human mtDNA haplogroup, see. It is one of two branches of the parent haplogroup GHIJK, the other being HIJK. Princeton: Princeton University Press, 1994. Am J Hum Genet 2012; 90: 573. There are multiple SNPs which so far have the same coverage as P15. Barac L, Pericic M, Klaric IM et al. In contrast to G1, the absolute majority of hg G samples belonged to G2-P287-related sub-clades, with the vast majority of them being associated with G2a-P15-related lineages. [2][37], Ancient DNA identified as G-PF3359 has been found at archaeological sites in: Hungary (the subclade G-F872*), dated at 7,500 years before present (BP); Hungary (subclade G-F1193*) 7,150 BP, and; Spain (G-PF3359*) 4,700 BP.[2]. The fragments were run on the ABI PRISM 3130xl Genetic Analyzer (Applied Biosystems). A relatively high percentage of G2a2b1 persons have a value of 21 at STR marker DYS390. In contrast, the only U1 representative in Europe is the G-M527 lineage whose distribution pattern is consistent with regions of Greek colonization. A plot of the sub-clades included in the principal component analysis (Figure 3b) indicates that the clustering of the populations from NW Caucasus is due to their U1* frequency, whereas L497 lineages account for the separation of central Europeans. Y-STR haplotypes were used to construct phylogenetic networks for haplogroups G-P303, G-P16 and G-M377, using the program Network (Fluxus-Engineering, Suffolk, England, UK) and applying the median-joining algorithm. It is one of two branches of the parent haplogroup GHIJK, the other being HIJK . Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia, Siiri Rootsi,Mari Jrve,Ildus Kutuev,Krt Varendi,Hovhannes Sahakyan,Doron M Behar,Alena Kushniarevich&Richard Villems, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA, USA, Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia, Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Russia, Ildus Kutuev,Elza K Khusnutdinova&Rita Khusainova, Departamento de Gentica, Facultad de Biologa, Universidad de La Laguna, Tenerife, Spain, Human Genetics Group, Institute of Molecular Biology, Academy of Sciences of Armenia, Yerevan, Armenia, Hovhannes Sahakyan,Levon Yepiskoposyan&Ardeshir Bahmanimehr, Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia, Institute for Anthropological Research, Zagreb, Croatia, Immunology department, Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran, Department of Human and Molecular Genetics, College of Medicine, Florida International University, Miami, FL, USA, Dipartimento di Biologia e Biotecnologie L. Lacan M, Keyser C, Ricaut FX et al. (Behar et al., 2012b) Origin Most researchers consider the birthplace of G to have been born in East Asia. Members of this group have been found in Europe and the Middle East.[3]. Phylogenetic relationships of studied binary markers within haplogroup G in wider context of M89-defined clade. [43] L240 was identified in 2009. A network of 61 G2c-M377 lineages from Europe, the Near/Middle East and Central and South Asia reveals founder lineages (one pronounced founder in Ashkenazi Jews and a far distant one among South Asian individuals) and diverged lineages (Supplementary Figure S1). The M201 SNP mutation that characterizes haplogroup G was identified at Stanford University and was first reported in 2001. The double 19 value situation is not seen in the G2a1 and G2a3 subclades. P287 was identified at the University of Arizona and became widely known in late 2007. Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus. Eur J Hum Genet 2003; 11: 535542. Origin. We estimate that the geographic origin of hg G plausibly locates somewhere nearby eastern Anatolia, Armenia or western Iran. Its estimated Td of 120953000 years ago suggests considerable antiquity allowing time to accumulate STR diversity and also to disperse relatively widely. Such temporal estimates must be viewed with caution owing to differences in individual STR locus mutation rates, sensitivity to rare outlier STR alleles and complexities related to multiple potential founders during a demographic event. The mutation is found on the Y chromosome at 10595022 and is a change from G to C. G-L30 (also G-PF3267, G-S126 or G-U8; G2a2b, previously G2a3) The mutation involves a change from C to T.[citation needed] L223 is found on the Y chromosome at rs13304806. His male-line descendants appear to remained rooted in the region for tens of thousands of years while the Ice Age was in full swing. Elizabeth T Wood, Daryn A Stover, Christopher Ehret, L177, later discarded in favour of PF3359 and equivalent SNPs, was first identified at. Ann Hum Genet 2005; 69: 443454. However, no clinal patterns were detected in the spatial autocorrelation analysis of the five sub-haplogroup frequencies with distance, suggesting that the distributions are not clinal but rather indicative of isolation by distance and demographic complexities. Whatever the date or specific place of origin, part of the G family put down roots predominantly in the area south and east of the Caucasus mountains. Although not exceeding 3% frequency overall, haplogroup G1-M285 reflects a branching event that is phylogenetically equivalent to the more widespread companion G2-P287 branch in the sense that both branches coalesce directly to the root of G-M201. The SNP L177 (a.k.a. Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure. In other words, these mutations are so unique that they could only come from other cells with the same mutations. Eur J Hum Genet 2004; 12: 855863. Hg G is most common in the Caucasus with a maximum frequency exceeding 70% in North Ossetians,2, 3 decreasing to 13% in Iran4 and then rapidly dissipating further eastward. Haplogroup P (P295) is also klnown as K2b2. This is achieved by comparing the haplotypes through the STR markers. G1-M285, previously described in the Iranian population . G2a2b1 so far has seldom surfaced in northern Africa or southern Asia, but represents a small percentage of the G population in the Caucasus Mountains region and in Iran. Beginning in 2008, additional G SNPs were identified at Family Tree DNA (L designations) and Ethnoancestry (S designations). Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood. Please help update this article to reflect recent events or newly available information. Almost all L141 men belong to L141 subclades. Hg G is very frequent in NW Caucasus and South Caucasus, covering about 45% of the paternal lineages in both regions2 in this study. Am J Hum Genet 2004; 74: 788788. Proc Natl Acad Sci USA 2011; 108: 1825518259. Artefactual values below 0% values were not depicted. L141 persons who do not belong to any L141 subclade so far have the value of 11 at STR marker DYS490 a finding rare in other G categories. Iceman tzi, known to have been a haplogr. Semino O, Magri C, Benuzzi G, Lin AA, Al-Zahery N, et al. In the Tirol (Tyrol) of western Austria, the percentage of G-M201 can reach 40% or more; perhaps the most famous example is the ancient remains of the so-called "Iceman", tzi. The hg G individuals in Supplementary Table S1 were either first genotyped for this study or updated to present phylogenetic resolution from earlier studies.2, 4, 10, 11, 13, 16, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27 All hg G (M201-derived) samples were genotyped in a hierarchical manner for the following binary markers: M285, P20, P287, P15, L91 P16, M286, P303, U1, L497, M406, Page19, M287 and M377. Mitochondrial haplogroup N is a "Macro-haplogroup", also called a "Superhaplogroup." All humans who left Africa descended from mtDNA haplogroup L3, and that ancient lineage soon gave rise to two great daughter families, M and N, which, in turn, became the mothers of billions. There were only a few G categories until 2008 when major revisions to categories were made. Haplogroup LT (L298/P326) is also known as Haplogroup K1. Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography. G-P16 is also occasionally present in Northeast Caucasus at lower frequencies (Supplementary Table S1), consistent with a previous report.3 Outside the Caucasus, hg G-P16 occurs at 1% frequency only in Anatolia, Armenia, Russia and Spain, while being essentially absent elsewhere. G2a was found in medieval remains in a 7th- century CE high-status tomb in Ergolding, Bavaria, Germany, but G2a subclades were not tested.[34]. Am J Hum Genet 2003; 72: 313332. Pichler I, Fuchsberger C, Platzer C et al. (2004) suggested the mutation took place only 9,500 years ago. However, interpretations based on simple haplogroup frequency clines do not recognize underlying patterns of genetic diversification. For this are several indications. Eur J Hum Genet 20, 12751282 (2012). Dulik MC, Osipova LP, Schurr TG : Y-chromosome variation in Altaian Kazakhs reveals a common paternal gene pool for Kazakhs and the influence of Mongolian expansions. We attempted to localize the potential geographic origin of . The Sea Peoples, from cuneiform tablets to carbon dating. Its identification caused considerable renaming of G categories. Mol Biol Evol 2011; 29: 359365. L1771.1/ L177_1, L1771.2/L177_2, L177.3/L177_3) was withdrawn as an identifier by ISOGG in 2013, after it was "found to be an unreliable palindromic snp". Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4). The North Ossetians in the mid northern Caucasus area of Russia belong overwhelmingly to the G2a1 subclade based on available samples. [4], Two scholarly papers have also suggested an origin in the Middle East, while differing on the date. The complexity is apparent in both the phylogenetic resolution and geographic patterning within hgs G and J2a. PAU thanks Professor Carlos D Bustamante. Forensic Sci Int-Gen 2007; 1: 287290. Y chromosome sequence variation and the history of human populations. [2], In 2012, a paper by Siiri Rootsi et al. The P303 SNP defines the most frequent and widespread G sub-haplogroup. Chiaroni J, King RJ, Myres NM et al. The oldest skeletons confirmed by ancient DNA testing as carrying haplogroup G2a were five found in the Avellaner cave burial site, near Les Planes d'Hostoles, in Catalonia, Spain and were dated by radiocarbon dating to about 5000 BCE. The non-clustering paraphyletic, hg G sub-group P303* residuals consist of samples from Near/Middle Eastern, Caucasian and European populations. The number of STR marker values separating men in this group suggest G-PF3359 is a relatively old group despite the small number of men involved. The hg G-U1 subclade is characterized by several sub-clusters of haplotypes, including a more diverse cluster mostly represented by Caucasus populations. Population codes: Baltics (Blt), Belarusians (Blr), Poles (Pol), Ukrainians (Ukr), northern Russians (NRu), southern and central Russians (SRu), Circum-Uralic (CUr), Germans (Ger), Central Europeans (CE), Iberians (Ibr), French (Fra), Sardinians (Srd), Corsica (Cor), Sicilians (Sic), Italians (Ita), Switzerlands (Swi), Western Balkans (WB), Romanians (Rmn), Bulgarians (Bul), Crete (Crt), Greeks (Grc), Anatolian Greeks (AG), Egyptians (Egy), Near/Middle Easterners (ME), Ashkenazi Jews (AJ), Sephardic Jews (SJ), Arabian Peninsula (AP), Palestinians (Pal), Druze (Drz), Western Turks (WTu), Central Turks (CTu), Eastern Turks (ETu), Iranians (Irn), Abkhazians (Abh), Armenians (Arm), Georgians (Grg), South Ossetians (SOs), Iranian Azeris (Azr), Abazins (Aba), Adyghes (Ady), Balkars (Blk), Cherkessians (Crk), Kabardins (Kab), Karachays (Kar), Kuban Nogays (Nog), North Ossetians (NOs), Chamalals (Cha), Ingushes (Ing), Kumyks (Kum), Central Asians (CA), Pakistani (Pak).