Haplogroup E-M123


In human genetics, Y Haplogroup E-M123 is a Y-chromosome haplogroup, and defined by the single nucleotide polymorphism mutation M123. Like its closest relatives within the larger E-M215 haplogroup, E-M123 is found in Asia, Europe and Africa.

Origin

The Levant and East Africa have both been proposed as the most likely origin for this lineage rather than North Africa. On the African continent, E-M34 seems to be localized to Semitic speakers in Ethiopia, and it has not been detected in other populations in the region such as in Somalia, Kenya, Morocco, Algeria, Egypt.

Distribution

E-M123 is best known for its major sub-clade E-M34, which dominates this clade. However, earlier studies did not test for E-M34. Looking beyond its geographical patterns, E-M123 is also quite common in many Semitic language communities, including among Ashkenazi, and Sephardic Jews, accounting for over 10% of all male lines.
Region and PopulationNE-M34Study
Jordanians 4531.1Flores et al. 2005
Ethiopian Amhara3423.5Cruciani et al. 2004
Maronite Cypriot5721.05Comparative Y-chromosome analysis among Cypriots in the context of historical events and migrations. 2021
Libyan Jews2020.0Shen et al. 2004
Greek Cypriot34413.10Y-chromosomal analysis of Greek Cypriots reveals a primarily common pre-Ottoman paternal ancestry with Turkish Cypriots. 2017
Ethiopian Jews2213.6Cruciani et al. 2004
Kurd5913.6Grugni et al. 2012
Albanians in Calabria6813.2Semino et al. 2004
Jordanians14613.01Floris et al. 2005
Beja Portugal812.5Beleza et al. 2006
Oman12112.0Abu-amero et al. 2009
Sahara/Mauritania18911.1Bekada et al. 2013
Assyrian Tehran Iran911.1Grugni et al. 2012
Mazara del Vallo Sicily Italy1811.1Di Gaetano et al. 2009
Piazza Armerina Sicily Italy2810.71Di Gaetano et al. 2009
Troina Sicily Italy3010.0Di Gaetano et al. 2009
Algerian Kabyles1910.5Arredi et al. 2004
Northern Egyptians4910.2Trombetta et al. 2015
Hazara 6910.1Di Cristofaro et al. 2013
Yemeni Jews2010.0Shen et al. 2004
Sephardim Jewish4010.0Semino et al. 2004
Ashkenazi Jews
non-Levite, non-Cohanim		7410.0Hammer et al. 2009
Palestinians3679.5Zalloua et al. 2008
Azeri Iran639.5Grugni et al. 2012
Ethiopian Wolayta128.3Cruciani et al. 2004
Yemen628.1Cadenas et al. 2007
Ethiopian Oromo258Cruciani et al. 2004
Erzurum Turkish258Cruciani et al. 2004
Omanite137.7Cruciani et al. 2004
Bedouins287.1Cruciani et al. 2004
Sicilians1366.6Cruciani et al. 2004
Sephardi Turkish195.3Cruciani et al. 2004
United Arab Emirates414.9Cruciani et al. 2004
Northern Egyptians214.8Cruciani et al. 2004
Southeastern Turkish244.2Cruciani et al. 2004
Armenians4134.1Herrera et al. 2011
Druze Arabs283.6Cruciani et al. 2004
Sardinians3673.5Cruciani et al. 2004
Marrakesh Berbers293.4Cruciani et al. 2004
Palestinians293.4Cruciani et al. 2004
Central Anatolian613.3Cruciani et al. 2004
Istanbul Turkish352.9Cruciani et al. 2004
Southwestern Turkish402.5Cruciani et al. 2004
Southern Italians872.3Cruciani et al. 2004
Turkish Cypriots462.2Cruciani et al. 2004
Azeri972.1Cruciani et al. 2004
Northern Italians671.5Cruciani et al. 2004
Corsicans1401.4Cruciani et al. 2004
Asturians901.1Cruciani et al. 2004
Caucasus19520.4Yunusbayev et al. 2011
Northern Portuguese50...Cruciani et al. 2004
Southern Portuguese49...Cruciani et al. 2004
Pasiegos from Cantabria56...Cruciani et al. 2004
Southern Spaniards62...Cruciani et al. 2004
Spanish Basques55...Cruciani et al. 2004
French85...Cruciani et al. 2004
French Basques16...Cruciani et al. 2004
Orkney Islanders7...Cruciani et al. 2004
Danish35...Cruciani et al. 2004
Central Italians89...Cruciani et al. 2004
Polish38...Cruciani et al. 2004
Estonians74...Cruciani et al. 2004
Russians42...Cruciani et al. 2004
Romanians14...Cruciani et al. 2004
Bulgarians8081.9Karachanak et al. 2013
Albanians19...Cruciani et al. 2004

Subclade distribution

E-M123* (tested and definitely without E-M34)

Such cases are relatively rare, but the following have been reported.
  • located one individual in Bulgaria after testing 3401 individuals from five continents, and located one individual in Central Asia out of 1062 people tested, including 184 from Central Asia and Siberia.
  • In a 568-person study in Iberia, found two E-M123* individuals, both in Northern Portugal out of 109 people tested there.
  • In a 553-person study of Portugal, also found two E-M123* individuals in Northern Portugal, out of 101 people, as well as 2 in Madeira out of 129 people tested there.
  • found one individual out of 146 Jordanians, this being one of the 101 individuals tested in Amman.
  • found 1 Tunisian from Tunis in their study of 275 men in Northern Africa, which included 148 people from Tunis.
  • Studies which tested for E-M123* but found none include...
E-M123 has sometimes been reported without checking for the M-34 SNP, for example:
  • found E-M123 examples in Greece, the Republic of Macedonia, and Romania.
  • also found examples in Portugal.
  • found one sample in Somalia.
  • reports relatively high levels of 13% in the Albanian community of Cosenza, in Calabria. A notably high regional frequency for E-M123 was in Oman, where it is apparently the dominant clade of E-M35.
  • found 12 men out of 121 there were E-M123 positive, while in Egypt there were 7 out of 147. But in that study the Omani E-M123 diversity implied a younger age than the E-M123 found in Egypt.
  • found 4.66% overall in their 236-person study of Sicily, with higher levels in the east of the island. They found none in Trapani, Alcamo, and Cacamo along the west of the north coast; 3.23% in San Ninfa inland in the west; 3.57% in Sciacca and Ragusa along the south coast; and then high levels in the east in Troina, Piazza Armerina, as well as near the Southwestern extreme facing Africa at Mazaro de Vallo.
  • found 11 E-M123 people in their 1140-person study of Iberia: 1 out of 95 Eastern Andalusians; 1 out of 100 NW Castilians; 1 out of 80 Catalans; 2 out of 52 Extramadurans; 2 out of 60 Northern Portuguese, 1 out of 78 Southern Portuguese, 1 out of 73 Southern Portuguese; 1 out of 73 Valencians; and highest levels apparently in the Balearics with 5 out of 37 Minorcans and 4 out of 54 Ibizans. There were none in Majorca, Gascony, Galicia, NE Castile, Castilla la Mancha, The Basque Country, the Asturias, West Andalucia, and Aragon.
  • found 9 out of 323 people in 3 areas of Sardinia. 4 out of 187 in Cagliari, 1 out of 103 in Sorgono, and 4 out of 86 in Tempio.
  • found 10 out of 169 Israelis and Palestinians of various ancestry to be M123+ and M34+, with the highest level group being 4 out of 20 Israeli Jews of Libyan ancestry
And E-M34 has sometimes been tested without testing for M123:
  • According to, E-M34 is found at small frequencies in North Africa and Southern Europe, and has its highest concentration in Ethiopia and the Near East. However, because the diversity is apparently low in Ethiopia, the authors suggest that E-M34 was likely introduced into Ethiopia from the Near East.
  • In Turkey, found slightly more E-M34 than E-M78 out of 523 individuals tested.
  • reported E-M34 in several parts of Iberia, but most strikingly about 10% in Galicia.
  • found about the same levels of E-M34 in Portugal as E-M123*, but E-M34 mainly in Central Portugal with one more person found in the Açores.
  • Strikingly, found 14 out of 45 men tested in the Dead Sea area of Jordan to be M34 positive, while in the capital Amman there were only 4 out of 101.
  • found 8.1% of 62 men tested in Yemen were positive for M34, compared to much lower levels in Qatar and the UAE.
  • in their study of 275 men in Northern Africa found 2 out of 148 Tunisians from Tunis, 2 out of 19 Algerian Berbers from Tizi Ouzu in Kabylie, and 3 out of 44 North Egyptians, 4 out of 29 South Egyptians.
  • found 3 in their 168-person study of Crete, 2 in Heraklion and 1 in Lasithi.
  • found one in South Iran out of 117 people, and none in North Iran out of 33 people.
  • found 26 E-M123 cases in Cyprus, out of 164 men tested; and 27 Palestinians out of 291 tested. This was apparently higher than the level of E-M78.

Subclades of E-M34

  • E-M84, defined by SNP mutation M84, with M136 defining a sub-clade as of October 2008. The based on testing so far that E-M84 is dominant in 6 out of the 8 clusters of E-M34 which that project identifies.
  • E-M290, defined by SNP mutation M290. found 1 Palestinian exemplar.
  • E-V23, defined by SNP mutation V23. announced the discovery of this clade. They found it in two African individuals. The authors warned that they had not yet confirmed that this clade was not a sub-clade or parent clade of either M84 or M290, so the phylogenetic position E1b1b1c1c is tentative.

Ancient DNA

  • According to the genetic analyses done on six Natufian remains from Northern Israel, the Natufians carried the Y-DNA haplogroup E-Z830, a somewhat upwind clade of E-M123. The Natufians were one of the first settled peoples in the world and may have contributed to the domestication of certain crops, and thus the advent of agriculture. The discovery of E-Z830 suggests an indigenous presence in Canaan and Israel that predates all other clades, which are not known to have existed in the region at the time. E-M123 is thought to have a TMRCA about 18,000 years ago, 8,000 years before the Natufian remains are from.
  • Haplogroup E1b1b1b2 has been found in 75% of the 'Ain Ghazal population, along with 60% of PPNB populations circa 8,800–6,500 BC..
  • A study on population genomics of Anatolia, the Caucasus and the Levant found in Arslantepe one individual who lived circa 3369-3110 BC, who belonged to E-M84.
  • A study on the population genomics of Bronze Age Eurasia found in the remains from Nerkin Getashen in Armenia, lived during the Middle Bronze Age, two E-M84.
  • A study on population genomics of Anatolia, the Caucasus and the Levant found in the ancient city of Ebla during the Bronze Age, one male individual who is E-M84.
  • A study on South Asian history, Narasimhan et al., found several individuals who belonged to E-Y31991 in Late Bronze Age/Early Iron Age samples in the Swat valley, modern north Pakistan.
  • A 137-sample study of ancient Eurasian genomes found one Central Scythian who belonged to E-M123*, in modern northeast Kazakhstan, dated from 800-750BC. According to the BAM file, made available by the authors, he's presumed to be E-Y168273, a clade downstream of PF4428 which is itself under E-M123*.

Phylogenetics

Phylogenetic history

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. 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.
YCC 2002/2008 ''''''YCC 2002 YCC 2005 YCC 2008 YCC 2010r ISOGG 2006ISOGG 2007ISOGG 2008ISOGG 2009ISOGG 2010ISOGG 2011ISOGG 2012
E-P2921III3A13Eu3H2BE*EEEEEEEEEE
E-M3321III3A13Eu3H2BE1*E1E1aE1aE1E1E1aE1aE1aE1aE1a
E-M4421III3A13Eu3H2BE1aE1aE1a1E1a1E1aE1aE1a1E1a1E1a1E1a1E1a1
E-M7521III3A13Eu3H2BE2aE2E2E2E2E2E2E2E2E2E2
E-M5421III3A13Eu3H2BE2bE2bE2bE2b1-------
E-P225III414Eu3H2BE3*E3E1bE1b1E3E3E1b1E1b1E1b1E1b1E1b1
E-M28III515Eu2H2BE3a*E3aE1b1E1b1aE3aE3aE1b1aE1b1aE1b1aE1b1a1E1b1a1
E-M588III515Eu2H2BE3a1E3a1E1b1a1E1b1a1E3a1E3a1E1b1a1E1b1a1E1b1a1E1b1a1a1aE1b1a1a1a
E-M116.28III515Eu2H2BE3a2E3a2E1b1a2E1b1a2E3a2E3a2E1b1a2E1b1a2E1ba12removedremoved
E-M1498III515Eu2H2BE3a3E3a3E1b1a3E1b1a3E3a3E3a3E1b1a3E1b1a3E1b1a3E1b1a1a1cE1b1a1a1c
E-M1548III515Eu2H2BE3a4E3a4E1b1a4E1b1a4E3a4E3a4E1b1a4E1b1a4E1b1a4E1b1a1a1g1cE1b1a1a1g1c
E-M1558III515Eu2H2BE3a5E3a5E1b1a5E1b1a5E3a5E3a5E1b1a5E1b1a5E1b1a5E1b1a1a1dE1b1a1a1d
E-M108III515Eu2H2BE3a6E3a6E1b1a6E1b1a6E3a6E3a6E1b1a6E1b1a6E1b1a6E1b1a1a1eE1b1a1a1e
E-M3525III414Eu4H2BE3b*E3bE1b1b1E1b1b1E3b1E3b1E1b1b1E1b1b1E1b1b1removedremoved
E-M7825III414Eu4H2BE3b1*E3b1E1b1b1aE1b1b1a1E3b1aE3b1aE1b1b1aE1b1b1aE1b1b1aE1b1b1a1E1b1b1a1
E-M14825III414Eu4H2BE3b1aE3b1aE1b1b1a3aE1b1b1a1c1E3b1a3aE3b1a3aE1b1b1a3aE1b1b1a3aE1b1b1a3aE1b1b1a1c1E1b1b1a1c1
E-M8125III414Eu4H2BE3b2*E3b2E1b1b1bE1b1b1b1E3b1bE3b1bE1b1b1bE1b1b1bE1b1b1bE1b1b1b1E1b1b1b1a
E-M10725III414Eu4H2BE3b2aE3b2aE1b1b1b1E1b1b1b1aE3b1b1E3b1b1E1b1b1b1E1b1b1b1E1b1b1b1E1b1b1b1aE1b1b1b1a1
E-M16525III414Eu4H2BE3b2bE3b2bE1b1b1b2E1b1b1b1b1E3b1b2E3b1b2E1b1b1b2aE1b1b1b2aE1b1b1b2aE1b1b1b2aE1b1b1b1a2a
E-M12325III414Eu4H2BE3b3*E3b3E1b1b1cE1b1b1cE3b1cE3b1cE1b1b1cE1b1b1cE1b1b1cE1b1b1cE1b1b1b2a
E-M3425III414Eu4H2BE3b3a*E3b3aE1b1b1c1E1b1b1c1E3b1c1E3b1c1E1b1b1c1E1b1b1c1E1b1b1c1E1b1b1c1E1b1b1b2a1
E-M13625III414Eu4H2BE3ba1E3b3a1E1b1b1c1aE1b1b1c1a1E3b1c1aE3b1c1aE1b1b1c1a1E1b1b1c1a1E1b1b1c1a1E1b1b1c1a1E1b1b1b2a1a1

Research publications

The following research teams per their publications were represented in the creation of the YCC tree.

Phylogenetic trees

  • E-M123
  • *E-M34
  • **E-M84
  • ***E-M136
  • **E-M290
  • **E-V23
  • **'''E-L791'''

Additional sources

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