Haplogroup E-M35

E-M35, also known as E1b1b1-M35, is a human Y-chromosome DNA haplogroup. E-M35 has two basal branches, E-V68 and E-Z827. E-V68 and E-Z827 are primarily distributed in North Africa and the Horn of Africa, and occur at lower frequencies in the Middle East, Europe, and Southern Africa.

In June 2015, Trombetta et al. reported a previously unappreciated large difference in the age between haplogroup E-M215 (38.6 kya; 95% CI 31.4–45.9 kya) and its sub-haplogroup E-M35 (25.0 kya; 95% CI 20.0–30.0 kya) and estimated its origin to be in Horn of Africa, where the node separating the E-V38 and E-M215 branches occurs about 47,500 years ago (95% CI: 41.3–56.8 ka).^[2] E-M35 was dated by Batini in 2015 to between 15,400 and 20,500 years ago.^[8]

All major sub-branches of E-M35 are thought to have originated in the same general area as the parent clade: in North Africa, the Horn of Africa, or nearby areas of the Near East. Some branches of E-M35 are assumed to have left Africa thousands of years ago, whereas others may have arrived from the Near East. For example, Underhill (2002) associates the spread of the haplogroup with the Neolithic Revolution, believing that the structure and regional pattern of E-M35 subclades potentially give "reagents with which to infer specific episodes of population histories associated with the Neolithic agricultural expansion". Battaglia et al. (2008) also estimate that E-M78 (called E1b1b1a1 in that paper) has been in Europe longer than 10,000 years. Accordingly, human remains excavated in a Spanish funeral cave dating from approximately 7,000 years ago were shown to be in this haplogroup.^[9] Two more E-M78 have been found in the Neolithic Sopot and Lengyel cultures too.^[10]

Concerning E-M35 in Europe within this scheme, Underhill & Kivisild (2007) have remarked that E-M215 seems to represent a late-Pleistocene migration from North Africa to Europe over the Sinai Peninsula in Egypt.^{[Note 2]} While this proposal remains uncontested, it has more recently been proposed by Trombetta et al. (2011) that there is also evidence for additional migration of E-M215 carrying men directly from North Africa to southwestern Europe, via a maritime route (see below.)

According to Lazaridis et al. (2016), Natufian skeletal remains from the ancient Levant predominantly carried the Y-DNA haplogroup E. Of the five Natufian specimens analysed for paternal lineages, one belonged to CT, one to E-M35, one to E-M215, one to E-Z830.^[11] Haplogroup E-M35 was also found the dominant marker among fossils from the ensuing Pre-Pottery Neolithic B culture, with the E-M78 and E-Z830 subclades observed in multiple PPNB specimens (~50%).^[12]

Following Fregel et al. (2017), two Neolithic farmers from the North African site of Ifri n Ammar ou Moussa belonged to haplogroup E-L19. The majority of their genomes traced back to Natufian and PPN ancestry , indicating a recent intrusion into North Africa from the Levant. Their presence is likely linked to the spread of pastoral technologies from the Levant into North Africa.^[13]

Loosdrecht et al. (2018) analysed genome-wide data from seven ancient Iberomaurusian individuals from the Grotte des Pigeons near Taforalt in eastern Morocco. The fossils were directly dated to between 15,100 and 13,900 calibrated years before present. The scientists found that five male specimens with sufficient nuclear DNA preservation all belonged to the E1b1b1a1 (M78) subclade, with one skeleton bearing the E1b1b1a1b1 parent lineage to E-V13.^[14] Martiniano et al. (2022) later reassigned all the Taforalt samples to haplogroup E-M78 and none to E-L618, the predecessor to E-V13.^[15]

Haplogroup E-M35 has been identified among both Amorite and Akkadian remains, found in the sites of Megiddo,^[16] Ebla, and Alalakh.^[17] It is also attested among later Semitic populations, such as the Phoenicians who settled throughout the Mediterranean region, where it appears to have been the most prevalent lineage.^[18] Additionally, analyses of medieval Andalusian remains indicate that individuals examined for paternal DNA overwhelmingly belonged to the E-M81 subclade.^[19][20][21]

In Egypt, haplogroup E-V1515 has been identified in the remains of an elite Egyptian individual from the site of Nuerat, dating to the Old Kingdom period,^[22] while haplogroup E-V22 has been detected in an ancient Egyptian mummy excavated at the Abusir el-Meleq archaeological site in Middle Egypt, dated to between the late New Kingdom and the Roman era.^[23]

E-M215 and E-M35 are quite common among Afroasiatic speakers. The linguistic group and carriers of E-M35 lineage have a high probability to have arisen and dispersed together from the Afroasiatic Urheimat.^[24] Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Palestinians and Jewish male lineages are E-M35.^[25] Haplogroup E-M35, which accounts for approximately 18%^[3] to 20%^[26][27] of 18% of Palestinians and Ashkenazi and 8.6%^[28] to 30%^[3] of Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Palestinian and the Jewish population.^{[29][Note 3]}

The following table only includes sample populations with more than 1% E-M215 men with all known subclades as of June 2015. It contains the E-V1515 clade defined by Trombetta et al. 2015, and all the E1b1b subclades distributed below the Sahara (E-V42, E-M293, E-V92, E-V6), which were identified as E-M35 basal clades in a former phylogeny.^[2]

Exceptional cases of men who are M215 positive but M35 negative ("E-M215*") have been discovered so far in two Amharas of Ethiopia and one Yemeni.^[4][30] At least some of these men, perhaps all, are known since early 2011 to be in a rare sibling clade to E-M35, known as E-V16 or E-M281.^[31] The discovery of M281 was announced by Semino et al. (2002), who found it in two Ethiopian Oromo. Trombetta et al. (2011) found 5 more Ethiopian individuals and an equivalent SNP to M281, V16. It was in the 2011 paper that the family tree position (M215+/M35-) was discovered as described above. The E-M215 derivative, E-M35 is defined by the M35 SNP. 1 Turkmen individual from Jawzjan with a subclade defining mutation is referred to as E-M35*.^[32] As of June 2015, there is an increasingly complex tree structure which divides most men in E-M35 into two branches: E-V68 and E-Z827.

The most frequently described subclades are E-M78, a part of E-V68, and E-M81, which is a branch of E-Z827. These two subclades represent the largest proportion of the modern E-M215 population. E-M78 is found over most of the range where E-M215 is found excluding Southern Africa. E-M81 is found mainly in North Africa. E-M123 is less common but widely scattered, with significant populations in specific parts of the Horn of Africa, the Levant, Arabia, Iberia, and Anatolia. A new clade (E-V1515) was defined by Trombetta et al. 2015, which originated about 12 kya (95% CI 8.6–16.4) in eastern Africa where it is currently mainly distributed. This clade includes the E-V42, E-M293, E-V92 and E-V6 subclades, which were identified as E-M35 basal clades in a previous phylogeny.^[2]

Within E-M35, there are striking parallels between two haplogroups, E-V68 and E-V257. Both contain a lineage which has been frequently observed in Africa (E-M78 and E-M81, respectively) and a group of undifferentiated chromosomes that are mostly found in southern Europe. An expansion of E-M35 carriers, possibly from the Middle East as proposed by other authors, and split into two branches separated by the geographic barrier of the Mediterranean Sea, would explain this geographic pattern. However, the absence of E-V68* and E-V257* in the Middle East makes a maritime spread between northern Africa and southern Europe a more plausible hypothesis.

E-V68, is dominated by its longer-known subclade E-M78. Three "E-V68*" individuals who are in E-V68 but not E-M78 have been reported in Sardinia, by Trombetta et al. (2011), when announcing the discovery of V68. The authors noted that because E-V68* was not found in the Middle Eastern samples, this appears to be evidence of maritime migration from Africa to southwestern Europe. E-M78 is a commonly occurring subclade, widely distributed in North Africa, the Horn of Africa, West Asia, (the Middle East and Near East) "up to Southern Asia",^[5] and all of Europe.^[33] The European distribution has a frequency peak centered in parts of the Balkans (up to almost 50% in some areas)^[3][34] and Sicily, and declining frequencies evident toward western, central, and northeastern Europe.

Based on genetic STR variance data, Cruciani et al. (2007) suggests that E-M78 originated in the region of Egypt and Libya.^{[Note 4]} about 18,600 years ago (17,300 – 20,000 years ago).^{[Note 5]} Battaglia et al. (2008) describe Egypt as "a hub for the distribution of the various geographically localized M78-related subclades" and, based on archaeological data, they propose that the point of origin of E-M78 (as opposed to later dispersal from Egypt) may have been in a refugium which "existed on the border of present-day Sudan and Egypt, near Lake Nubia, until the onset of a humid phase around 8500 BC. The northward-moving rainfall belts during this period could have also spurred a rapid migration of Mesolithic foragers northwards in Africa, the Levant and ultimately onward to Asia Minor and Europe, where they each eventually differentiated into their regionally distinctive branches". Towards the south, Hassan et al. (2008) also explain evidence that some subclades of E-M78, specifically E-V12 and E-V22, "might have been brought to Sudan from North Africa after the progressive desertification of the Sahara around 6,000–8,000 years ago". And similarly, Cruciani et al. (2007) propose that E-M78 in Ethiopia, Somalia and surrounding areas, back-migrated to this region from the direction of Egypt after acquiring the E-M78 mutation.

Recently, E-M78 was dated by Trombetta et al. 2015. between 20,300 and 14,800 years ago.^[2]

Listed here are the main subclades of M78 as of June 2015. Within the E-M78 subclade, Trombetta et al. 2015 allocated most of the former E-M78* chromosomes to three new distinct branches: E-V1083*, E-V1477 and E-V259. The first is a paragroup sister to clades E-V22 and E-V13. The mutation V1477 defines a new basal branch that has been observed only in one northern African sample. Finally, a sister clade of E-V12 defined by V264 includes E-V65 and V259, a new lineage distributed in central Africa.^[2][33]

• E-M78 (E1b1b1a1) North Africa, Horn of Africa, West Asia, Europe (formerly "E1b1b1a").
  • E-M78* Found in Morocco, southern Portugal, southern Spain and Iran (Tehran and Semnan provinces).
  • E-V1477 Found in Tunisian Jews.
  • E-V1083
    • E-V1083* Found only in Eritrea (1.1%) and Sardinia (0.3%).
    • E-V13 This is the most common subclade of E-M215 found in Europe. It is especially common in the Balkans.
    • E-V22. Concentrated in Northeast Africa and the Near East. Peaks among the Saho.
  • E-V1129
    • E-V12. Found in Egypt, Sudan, and Chad other places. Has an important subclade
      • E-V12* Most common lineage among Southern Egyptians (74.5%).
      • E-V32. Very common among Somalis, Tigre and Oromos.
    • E-V264
      • E-V259 Found in North Cameroon.
      • E-V65 Associated with North Africa, but also found in Sicily and also found in continental Italy.
  • E-M521 Not mentioned by Trombetta et al.2015. Found in two individuals in Greece by Battaglia et al. (2008) and in one individual from the Eastern Alpine region of Italy by Coia et al. (2013)

In human genetics, E-Z827, is the name of a major human Y-chromosome DNA haplogroup abundantly found in North Africa, particularly the Maghreb, and to a lesser extent in Horn of Africa, the Near East and Europe.

To date, only two immediate downstream subclades of E-L19 have been recognized: E-PF2431 and E-M81.

E-M81 is the dominant subclade of E-L19, accounting for more than 99% of its carriers. It has three main branches: E-M165, carried exclusively by a German and an Israeli;^[35] E-Y596059, carried by a Syrian from Damascus and an Iraqi Al Anbar; and E-CTS4236, carried exclusively by a Syrian from Quneitra, nearly all branches of E-M81 today derives from E-CTS4236.^[36] It is thought to have originated in the Near East,^{[37][38][39][40][41][42]} roughly 13,000 years ago, with subsequent expansions into Europe and North Africa occurring either about 1,000 years ago via Arab populations^[43] or around 3,000 years ago through Phoenician movements.^[44]

This distribution has been usually explained as a consequence of a westward expansion from the Near East and this event probably occurred in recent times, possibly about 2 kya [22]. We calculated the forensic indexes including only the E-M81 subjects and we could observe an even more enhanced clinal pattern (Moroccan DC = 0.87; Libyan DC = 0.96; the values for the Egyptian populations cannot be considered informative because our collection included only four E-M81 chromosomes from this country) (Supplementary Table 12).^[45]

This haplogroup has been identified in a variety of historically significant populations, including the ancient Phoenicians from Malaka and Selinunte,^[44] Medieval Arab communities from Al-Andalus and the Emirate of Sicily,^[43][46] as well as among the indigenous population of the Canary Islands.^[47]

E-PF2431 is a minor subclade of E-L19 mostly found in Europe, with smaller but notable frequencies in the Middle East/North Africa and sub-Saharan Africa. This haplogroup has been identified among Phoenicians from Motya,^[59] ancient Romans from Pompeii,^[60] and Medieval Arabs.^[49]

This is a recently discovered subclade which has not yet been included in most haplogroup trees, E-Z830 includes the confirmed subclades of E-M123, E-V1515 (E-M293, E-V42, E-V6, E-V92), and E-Z830*, and is a sibling clade to E-L19. Currently,^[61] the E-M35 phylogeny project] recognizes four distinct clusters of Z830* carriers, two of which are exclusively Jewish in origin. The remaining two are significantly smaller, and include scattered individuals in Germany, Spain, Latin America, Egypt, and Ethiopia.^{[62][63][64][65]}

E-M123 is mostly known for its major subclade E-M34, which dominates this clade.^{[Note 6]}

A new clade (E-V1515) was defined by Trombetta et al. 2015, which originated about 12 kya (95% CI 8.6–16.4) in eastern Africa where it is currently mainly distributed. This clade includes all the sub-Saharan haplogroups (E-V42, E-M293, E-V92, E-V6) reported as E-M35 basal clades in a previous phylogeny.^[2]

E-M293 is a subclade of E-V1515. It was first identified by ISOGG as the second clade within E-Z830. It was discovered before E-Z830, being announced in Henn et al. (2008), which associated it with the spread of pastoralism from East Africa into Southern Africa. So far high levels have been found in specific ethnic groups in Tanzania and Southern Africa. Highest were the Datooga (43%), Khwe (Kxoe) (31%), Burunge (28%), and Sandawe peoples (24%). Henn (2008) in their study also found two Bantu-speaking Kenyan males with the M293 mutation.^[6]

Other E-M215 subclades are rare in Southern Africa. The authors state "Without information about M293 in the Maasai, Hema, and other populations in Kenya, Sudan, and Ethiopia, we cannot pinpoint the precise geographic source of M293 with greater confidence. However, the available evidence points to present-day Tanzania as an early and important geographic locus of M293 evolution.". They also say that "M293 is only found in sub-Saharan Africa, indicating a separate phylogenetic history for M35.1 * (former) samples further north".

E-P72 appears in Karafet (2008). Trombetta et al. (2011) announced that this is a subclade of E-M293.

Trombetta et al. (2011) announced the discovery of E-V42 in two Beta Israel persons. It was suggested that it may be restricted to the region around Ethiopia. However, further testing by commercial DNA testing companies confirmed many positive results for this subclade in Saudi Arabia, Kuwait and one person in Portugal who has a root from Arabia.^[66]

The E-V6 subclade of E-V1515 is defined by V6. Cruciani et al. (2004) identified a significant presence of these lineages in Ethiopia and also some in the neighboring Somalis. Among the Ethiopian and Somali samples, the highest were 14.7% among the Amhara and 16.7% among the Wolayta.

To the south, Tishkoff et al. (2007) identified one V6+ man in a sample of 35 Datooga of Tanzania. And further to the north, Dugoujon et al. (2009) identified another 6 men in a sample of 93 from the Siwa Oasis, which is a Berber population

Trombetta et al. (2011) announced the discovery of E-V92 in two Amharas. Like E-V6 and E-V42 it possibly only exists in the area of Ethiopia.

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.

Cladogram with the main subclades:

The following phylogenetic tree is based on the YCC 2008 tree and subsequent published research as summarized by ISOGG. It includes all known subclades as of June 2015 (Trombetta et al. 2015)^[67][68][69]

• E-M215 (E1b1b)
  • E-M215*. Rare or non-existent.
  • E-M35 (E1b1b1)
    • E-V68 (E1b1b1a)
      • E-V2009. Found in individuals in Sardinia and Morocco.
      • E-M78 (E1b1b1a1). North Africa, Horn of Africa, West Asia, Sicily. (Formerly "E1b1b1a".)
        • E-M78*
        • E-V1477. Found in Tunisian Jews.
        • E-V1083.
          • E-V1083*. Found only in Eritrea (1.1%) and Sardinia (0.3%).
          • E-V13
          • E-V22
        • E-V1129
          • E-V12
            • E-V12*
            • E-V32
          • E-V264
            • E-V259. Found in North Cameroon.
            • E-V65
              • E-CTS194
    • E-Z827 (E1b1b1b)^[70]
      • E-V257/L19 (L19, V257) – E1b1b1b1^[70]
        • E-PF2431
        • E-M81 (M81)
          • E-PF2546
            • E-PF2546*
            • E-CTS12227
              • E-MZ11
                • E-MZ12
            • E-A929
              • E-Z5009
                • E-Z5009*
                • E-Z5010
                • E-Z5013
                  • E-Z5013*
                  • E-A1152
              • E-A2227
                • E-A428
                • E-MZ16
              • E-PF6794
                • E-PF6794*
                • E-PF6789
                  • E-MZ21
                  • E-MZ23
                  • E-MZ80
              • E-A930
              • E-Z2198/E-MZ46
                • E-A601
                • E-L351
      • E-Z830 (Z830) – E1b1b1b2^[70]
        • E-M123 (M123)
          • E-M34 (M34)
            • E-M84 (M84)
              • E-M136 (M136)
            • E-M290 (M290)
            • E-V23 (V23)
            • E-L791 (L791,L792)
        • E-V1515. E-V1515 and its subclades are mainly restricted to eastern Africa.
          • E-V1515*
          • E-V1486
            • E-V1486*
            • E-V2881
              • E-V2881*
              • E-V1792
              • E-V92
            • E-M293 (M293)
              • E-M293*
              • E-P72 (P72)
              • E-V3065*
          • E-V1700
            • E-V42 (V42)
            • E-V1785
              • E-V1785*
              • E-V6 (V6)
    • E-V16/E-M281 (E1b1b2). Rare. Found in individuals in Ethiopia, Yemen and Saudi Arabia.

Wikiquote has quotations related to Haplogroup E-M35.

• E-M35 Phylogeny Project Wiki
• E-M35 Phylogeny Project (all labs site)
• E-M35 Phylogeny Project Public Forum
• Jewish E3b Project at FTDNA
• Map of E-M35 distribution in Europe
• Haplogroup E3B1 (E1b1b1) Facebook Group (M35 community)
• E1b1b1b*-A Project
• E1b1.org – International Y-DNA project of Haplogroup E1b1 and its Subclades