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, it is found in both Africa and Eurasia. Looking beyond its geographical patterns, E-M123 is also quite common in many Semitic language communities, including among both Ashkenazi and Sephardic Jews, accounting for over 10% of all male lines (Semino 2004).
The distribution pattern of E-M123 is patchy and this has led to discussion about how this can be explained. Cruciani et al. (2004) proposed that although the clade has its roots in northeastern Africa, it has likely come to Ethiopia via Egypt, and then the Middle East. Luis et al. (2004), as also noted above, came to the same conclusion by comparing different data sets. Luis propose that this male line may have traveled south from the Fertile Crescent with farming technology.
According to the genetic analyses done on six Natufian remains from Northern Israel, the Natufians carried the Y-DNA haplogroup E-Z830, a slightly 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 MRCA about 4,750 years ago, 5-6,000 years after the Natufian (possibly ancestral) remains are from, suggesting a South Levantine origin for M123 and subclades like M34 and M136.
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.
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. (2008) 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 Catalonians; 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 ancestryAnd 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. (Gayden) 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.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.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.
The following research teams per their publications were represented in the creation of the YCC tree.
E-M123 (M123)E-M34 (M34)E-M84 (M84)E-M136 (M136)E-M290 (M290)E-V23 (V23)E-L791 (L791,L792)