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Haplogroup E-M123

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(Redirected from Haplogroup E1b1b1c (Y-DNA)) Human Y-chromosome haplogroup
Haplogroup E-M123
Possible time of origin15,000-20,000 ybp
Possible place of originMiddle East
AncestorE-Z830
DescendantsE-M34
Defining mutationsM123, L798.1, L799, L857

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

Origin

The Middle East has been proposed as the most likely origin for this lineage rather than East Africa or North Africa. In fact E-M34 seems to be restricted to Semitic speakers in Ethiopia, as it has not been detected in other populations in the region such as Somalia, Kenya (Cruciani et al. 2004).

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, Ethiopian, and Sephardic Jews, accounting for over 10% of all male lines (Semino et al. 2004).

Region and Population N E-M34 Study
Natufians (Northern Israel, 10,000 ybp) 5 40-100 (incomplete data) Lazaridis et al. 2016
Jordanians (Dead sea) 45 31.1 Flores et al. 2005
Ethiopian Amhara 34 23.5 Cruciani et al. 2004
Maronite Cypriot 57 21.05 Comparative Y-chromosome analysis among Cypriots in the context of historical events and migrations. 2021
Libyan Jews 20 20.0 Shen et al. 2004
Greek Cypriot 344 13.10 Y-chromosomal analysis of Greek Cypriots reveals a primarily common pre-Ottoman paternal ancestry with Turkish Cypriots. 2017
Ethiopian Jews 22 13.6 Cruciani et al. 2004
Kurd 59 13.6 Grugni et al. 2012
Italian Calabria 68 13.2 Semino et al. 2004
Jordanians 146 13.01 Floris et al. 2005
Beja Portugal 8 12.5 Beleza et al. 2006
Oman 121 12.0 Abu-amero et al. 2009
Sahara/Mauritania 189 11.1 Bekada et al. 2013
Assyrian Tehran Iran 9 11.1 Grugni et al. 2012
Mazara del Vallo Sicily Italy 18 11.1 Di Gaetano et al. 2009
Piazza Armerina Sicily Italy 28 10.71 Di Gaetano et al. 2009
Troina Sicily Italy 30 10.0 Di Gaetano et al. 2009
Algerian Kabyles 19 10.5 Arredi et al. 2004
Northern Egyptians 49 10.2 Trombetta et al. 2015
Hazara (Bamiyan) 69 10.1 Di Cristofaro et al. 2013
Yemeni Jews 20 10.0 Shen et al. 2004
Sephardim Jewish 40 10.0 Semino et al. 2004
Ashkenazi Jews
non-Levite, non-Cohanim		 74 10.0 Hammer et al. 2009
Palestinians 367 9.5 Zalloua et al. 2008
Azeri Iran 63 9.5 Grugni et al. 2012
Ethiopian Wolayta 12 8.3 Cruciani et al. 2004
Yemen 62 8.1 Cadenas et al. 2007
Ethiopian Oromo 25 8 Cruciani et al. 2004
Erzurum Turkish 25 8 Cruciani et al. 2004
Omanite 13 7.7 Cruciani et al. 2004
Bedouins 28 7.1 Cruciani et al. 2004
Sicilians 136 6.6 Cruciani et al. 2004
Sephardi Turkish 19 5.3 Cruciani et al. 2004
United Arab Emirates 41 4.9 Cruciani et al. 2004
Northern Egyptians 21 4.8 Cruciani et al. 2004
Southeastern Turkish 24 4.2 Cruciani et al. 2004
Armenians 413 4.1 Herrera et al. 2011
Druze Arabs 28 3.6 Cruciani et al. 2004
Sardinians 367 3.5 Cruciani et al. 2004
Marrakesh Berbers 29 3.4 Cruciani et al. 2004
Palestinians 29 3.4 Cruciani et al. 2004
Central Anatolian 61 3.3 Cruciani et al. 2004
Istanbul Turkish 35 2.9 Cruciani et al. 2004
Southwestern Turkish 40 2.5 Cruciani et al. 2004
Southern Italians 87 2.3 Cruciani et al. 2004
Turkish Cypriots 46 2.2 Cruciani et al. 2004
Azeri 97 2.1 Cruciani et al. 2004
Northern Italians 67 1.5 Cruciani et al. 2004
Corsicans 140 1.4 Cruciani et al. 2004
Asturians 90 1.1 Cruciani et al. 2004
Caucasus 1952 0.4 Yunusbayev et al. 2011
Northern Portuguese 50 ... Cruciani et al. 2004
Southern Portuguese 49 ... Cruciani et al. 2004
Pasiegos from Cantabria 56 ... Cruciani et al. 2004
Southern Spaniards 62 ... Cruciani et al. 2004
Spanish Basques 55 ... Cruciani et al. 2004
French 85 ... Cruciani et al. 2004
French Basques 16 ... Cruciani et al. 2004
Orkney Islanders 7 ... Cruciani et al. 2004
Danish 35 ... Cruciani et al. 2004
Central Italians 89 ... Cruciani et al. 2004
Polish 38 ... Cruciani et al. 2004
Estonians 74 ... Cruciani et al. 2004
Russians 42 ... Cruciani et al. 2004
Romanians 14 ... Cruciani et al. 2004
Bulgarians 808 1.9 Karachanak et al. 2013
Albanians 19 ... 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.

  • Cruciani et al. (2004) located one individual in Bulgaria after testing 3401 individuals from five continents (of which 116 were Bulgarian), and Underhill et al. (2000) 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, Flores et al. (2005) found two E-M123* individuals, both in Northern Portugal out of 109 people tested there.
  • In a 553-person study of Portugal, Gonçalves et al. (2005) 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.
  • Flores et al. (2005) found one individual out of 146 Jordanians, this being one of the 101 individuals tested in Amman.
  • Arredi et al. (2004) 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:

  • Bosch et al. (2006) found E-M123 examples in Greece, the Republic of Macedonia, and Romania.
  • Beleza et al. (2006) also found examples in Portugal.
  • Sanchez et al. (2005) found one sample in Somalia.
  • Semino et al. (2004) 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.
  • Luis et al. (2004) 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. (Cruciani et al. (2004) tested for E-M34 in Oman and found 7.7% to be E-M34+, with no E-M123*.)
  • Di Gaetano et al. (2009) 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 (33 people), Alcamo (24 people), and Cacamo (16 people) along the west of the north coast; 3.23% in San Ninfa (31 people) inland in the west; 3.57% in Sciacca (28 people) and Ragusa (28 people) along the south coast; and then high levels in the east in Troina (10% of 30 people), Piazza Armerina (10.71% of 28 people), as well as near the Southwestern extreme facing Africa at Mazaro de Vallo (11.11% of 18 people).
  • Adams et al. (2008) 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 (62 people), Gascony (24), Galicia (88), NE Castile (31), Castilla la Mancha (63), The Basque Country (116), the Asturias (20), West Andalucia (73), and Aragon (34).
  • Contu et al. (2008) 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.
  • Shen et al. (2004) 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 Cruciani et al. (2004), E-M34 is found at small frequencies in North Africa and Southern Europe (6.6% in Sicily for example), and has its highest concentration in Ethiopia and the Near East (with highest levels in Oman and Turkey). 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, Cinnioğlu et al. (2004) found slightly more E-M34 (29) than E-M78 (26) out of 523 individuals tested (a far different E1b1b population than found in the nearby Balkans).
  • Flores et al. (2004) reported E-M34 in several parts of Iberia, but most strikingly about 10% in Galicia.
  • Gonçalves et al. (2005) found about the same levels of E-M34 in Portugal as E-M123*, but E-M34 mainly in Central Portugal (4 people out of 102 tested there) with one more person found in the Açores.
  • Strikingly, Flores et al. (2005) found 14 out of 45 men tested in the Dead Sea area of Jordan to be M34 positive (31.1%), while in the capital Amman there were only 4 out of 101.
  • Cadenas et al. (2007) found 8.1% of 62 men tested in Yemen were positive for M34, compared to much lower levels in Qatar (1.4%) and the UAE (3.1%).
  • Arredi et al. (2004) 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 (10.5%), and 3 out of 44 North Egyptians, 4 out of 29 South Egyptians (So 9.5% in all Egyptians).
  • Martinez et al. (2007) found 3 in their 168-person study of Crete, 2 in Heraklion and 1 in Lasithi.
  • Regueiro et al. (2006) found one in South Iran out of 117 people, and none in North Iran out of 33 people.
  • Zalloua et al. (2008) 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 E-M35 Phylogeny Project estimates based on testing so far (in January 2009) 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. Shen et al. (2004) found 1 Palestinian exemplar.
  • E-V23, defined by SNP mutation V23. Trombetta et al. (2011) 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 (and therefore ancestral to it). 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 (without other clades) 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 (10,000 years before present). E-M123 is thought to have a TMRCA about 18,000 years ago, 8,000 years before the Natufian (possibly ancestral) remains are from.
  • 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 (E1b1b1b2a1a1~).
  • A study on South Asian history, Narasimhan et al. (2019), 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* (E-Y31991), 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

Main article: Conversion table for Y chromosome haplogroups

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.

YCC 2002/2008 (Shorthand) (α) (β) (γ) (δ) (ε) (ζ) (η) YCC 2002 (Longhand) YCC 2005 (Longhand) YCC 2008 (Longhand) YCC 2010r (Longhand) ISOGG 2006 ISOGG 2007 ISOGG 2008 ISOGG 2009 ISOGG 2010 ISOGG 2011 ISOGG 2012
E-P29 21 III 3A 13 Eu3 H2 B E* E E E E E E E E E E
E-M33 21 III 3A 13 Eu3 H2 B E1* E1 E1a E1a E1 E1 E1a E1a E1a E1a E1a
E-M44 21 III 3A 13 Eu3 H2 B E1a E1a E1a1 E1a1 E1a E1a E1a1 E1a1 E1a1 E1a1 E1a1
E-M75 21 III 3A 13 Eu3 H2 B E2a E2 E2 E2 E2 E2 E2 E2 E2 E2 E2
E-M54 21 III 3A 13 Eu3 H2 B E2b E2b E2b E2b1 - - - - - - -
E-P2 25 III 4 14 Eu3 H2 B E3* E3 E1b E1b1 E3 E3 E1b1 E1b1 E1b1 E1b1 E1b1
E-M2 8 III 5 15 Eu2 H2 B E3a* E3a E1b1 E1b1a E3a E3a E1b1a E1b1a E1b1a E1b1a1 E1b1a1
E-M58 8 III 5 15 Eu2 H2 B E3a1 E3a1 E1b1a1 E1b1a1 E3a1 E3a1 E1b1a1 E1b1a1 E1b1a1 E1b1a1a1a E1b1a1a1a
E-M116.2 8 III 5 15 Eu2 H2 B E3a2 E3a2 E1b1a2 E1b1a2 E3a2 E3a2 E1b1a2 E1b1a2 E1ba12 removed removed
E-M149 8 III 5 15 Eu2 H2 B E3a3 E3a3 E1b1a3 E1b1a3 E3a3 E3a3 E1b1a3 E1b1a3 E1b1a3 E1b1a1a1c E1b1a1a1c
E-M154 8 III 5 15 Eu2 H2 B E3a4 E3a4 E1b1a4 E1b1a4 E3a4 E3a4 E1b1a4 E1b1a4 E1b1a4 E1b1a1a1g1c E1b1a1a1g1c
E-M155 8 III 5 15 Eu2 H2 B E3a5 E3a5 E1b1a5 E1b1a5 E3a5 E3a5 E1b1a5 E1b1a5 E1b1a5 E1b1a1a1d E1b1a1a1d
E-M10 8 III 5 15 Eu2 H2 B E3a6 E3a6 E1b1a6 E1b1a6 E3a6 E3a6 E1b1a6 E1b1a6 E1b1a6 E1b1a1a1e E1b1a1a1e
E-M35 25 III 4 14 Eu4 H2 B E3b* E3b E1b1b1 E1b1b1 E3b1 E3b1 E1b1b1 E1b1b1 E1b1b1 removed removed
E-M78 25 III 4 14 Eu4 H2 B E3b1* E3b1 E1b1b1a E1b1b1a1 E3b1a E3b1a E1b1b1a E1b1b1a E1b1b1a E1b1b1a1 E1b1b1a1
E-M148 25 III 4 14 Eu4 H2 B E3b1a E3b1a E1b1b1a3a E1b1b1a1c1 E3b1a3a E3b1a3a E1b1b1a3a E1b1b1a3a E1b1b1a3a E1b1b1a1c1 E1b1b1a1c1
E-M81 25 III 4 14 Eu4 H2 B E3b2* E3b2 E1b1b1b E1b1b1b1 E3b1b E3b1b E1b1b1b E1b1b1b E1b1b1b E1b1b1b1 E1b1b1b1a
E-M107 25 III 4 14 Eu4 H2 B E3b2a E3b2a E1b1b1b1 E1b1b1b1a E3b1b1 E3b1b1 E1b1b1b1 E1b1b1b1 E1b1b1b1 E1b1b1b1a E1b1b1b1a1
E-M165 25 III 4 14 Eu4 H2 B E3b2b E3b2b E1b1b1b2 E1b1b1b1b1 E3b1b2 E3b1b2 E1b1b1b2a E1b1b1b2a E1b1b1b2a E1b1b1b2a E1b1b1b1a2a
E-M123 25 III 4 14 Eu4 H2 B E3b3* E3b3 E1b1b1c E1b1b1c E3b1c E3b1c E1b1b1c E1b1b1c E1b1b1c E1b1b1c E1b1b1b2a
E-M34 25 III 4 14 Eu4 H2 B E3b3a* E3b3a E1b1b1c1 E1b1b1c1 E3b1c1 E3b1c1 E1b1b1c1 E1b1b1c1 E1b1b1c1 E1b1b1c1 E1b1b1b2a1
E-M136 25 III 4 14 Eu4 H2 B E3ba1 E3b3a1 E1b1b1c1a E1b1b1c1a1 E3b1c1a E3b1c1a E1b1b1c1a1 E1b1b1c1a1 E1b1b1c1a1 E1b1b1c1a1 E1b1b1b2a1a1

Research publications

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

Phylogenetic trees

  • E-M123 (M123)
    • E-M34 (M34)
      • E-M84 (M84)
        • E-M136 (M136)
      • E-M290 (M290)
      • E-V23 (V23)
      • E-L791 (L791,L792)

See also

Genetics

Y-DNA E subclades

Y-DNA backbone tree

Phylogenetic tree of human Y-chromosome DNA haplogroups
This article needs to be updated. Please help update this article to reflect recent events or newly available information. (February 2021)
"Y-chromosomal Adam"
A00 A0-T 
A0 A1 
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1  F-Y27277   F3  GHIJK
G HIJK
IJK H
IJ K
I   J     LT        K2 
I1   I2  J1   J2  L     T  K2e K2d K2c K2b   K2a
K2b1    P  K-M2313 
S   M     P1   NO1
P1c P1b P1a N O
R Q
Footnotes
  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. PMID 24166809. S2CID 23291764.
  2. International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4).
  4. Haplogroup A1 is also known as A1'2'3'4.
  5. F-Y27277, sometimes known as F2'4, is both the parent clade of F2 and F4 and a child of F-M89.
  6. Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  7. Between 2002 and 2008, Haplogroup T-M184 was known as "Haplogroup K2". That name has since been re-assigned to K-M526, the sibling of Haplogroup LT.
  8. Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  9. Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
  10. Haplogroup P (P295) is also klnown as K2b2.
  11. 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)
  12. Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
  13. Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

References

Notes

  1. As of 11 November 2008 for example, the E-M35 phylogeny project had records of four E-M123* tests (20 records; 26 May 2017), compared to 93 test results with E-M34.

Works cited

  1. "E-M123 YTree".
  2. Cruciani et al. (2004).
  3. Hammer, Michael F.; Behar, Doron M.; Karafet, Tatiana M.; Mendez, Fernando L.; Hallmark, Brian; Erez, Tamar; Zhivotovsky, Lev A.; Rosset, Saharon; Skorecki, Karl (November 2009). "Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood". Human Genetics. 126 (5): 707–717. doi:10.1007/s00439-009-0727-5. PMC 2771134. PMID 19669163.
  4. ISOGG (2011)
  5. Lazaridis, Iosif; et al. (17 June 2016), "The genetic structure of the world's first farmers", bioRxiv 10.1101/059311
  6. Y-DNA E-M123; A Closer Look, yfull, 3 March 2019, retrieved 3 March 2019
  7. "E-M84 YTree".
  8. Skourtanioti, Eirini; Erdal, Yilmaz S.; Frangipane, Marcella; Balossi Restelli, Francesca; Yener, K. Aslıhan; Pinnock, Frances; Matthiae, Paolo; Özbal, Rana; Schoop, Ulf-Dietrich; Guliyev, Farhad; Akhundov, Tufan; Lyonnet, Bertille; Hammer, Emily L.; Nugent, Selin E.; Burri, Marta; Neumann, Gunnar U.; Penske, Sandra; Ingman, Tara; Akar, Murat; Shafiq, Rula; Palumbi, Giulio; Eisenmann, Stefanie; d'Andrea, Marta; Rohrlach, Adam B.; Warinner, Christina; Jeong, Choongwon; Stockhammer, Philipp W.; Haak, Wolfgang; Krause, Johannes (2020). "Genomic History of Neolithic to Bronze Age Anatolia, Northern Levant, and Southern Caucasus". Cell. 181 (5): 1158–1175.e28. doi:10.1016/j.cell.2020.04.044. hdl:20.500.12154/1254. PMID 32470401. S2CID 219105572.
  9. Allentoft M.E., Sikora M., Sjogren K.G., Rasmussen S., Rasmussen M., Stenderup J., Damgaard P.B., Schroeder H., Ahlstrom T., Vinner L., et al. 2015 Population genomics of Bronze Age Eurasia. Nature 522(7555), 167-172. (doi:10.1038/nature14507).
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