E-M215, also known as E1b1b and formerly E3b, is a major
human Y-chromosome DNA haplogroup
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non- recombining portions of DNA from the male-specific Y chromosome (called Y-DNA). Many people within a haplogroup share similar numbers of sh ...
. It is a division of the macro-
haplogroup E-M96
Haplogroup E-M96 is a human Y-chromosome DNA haplogroup. It is one of the two main branches of the older and ancestral haplogroup DE, the other main branch being haplogroup D. The E-M96 clade is divided into two main subclades: the more common ...
, which is defined by the
single-nucleotide polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently lar ...
(SNP)
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
M215.
In other words, it is one of the major
patrilineages of
human
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...
ity, linking from father-to-son back to a common male-line ancestor ("
Y-chromosomal Adam
In human genetics, the Y-chromosomal most recent common ancestor (Y-MRCA, informally known as Y-chromosomal Adam) is the patrilineal most recent common ancestor (MRCA) from whom all currently living humans are descended. He is the most recent mal ...
"). It is a subject of discussion and study in
genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...
as well as
genetic genealogy
Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used b ...
,
archaeology
Archaeology or archeology is the scientific study of human activity through the recovery and analysis of material culture. The archaeological record consists of artifacts, architecture, biofacts or ecofacts, sites, and cultural landscap ...
, and
historical linguistics
Historical linguistics, also termed diachronic linguistics, is the scientific study of language change over time. Principal concerns of historical linguistics include:
# to describe and account for observed changes in particular languages
# ...
.
The E-M215 haplogroup has two ancient branches that contain all the known modern E-M215, E-M35 and E-M281 subclades. Of the latter two E-M215 subhaplogroups, the only branch that has been confirmed in a native population outside of
Ethiopia
Ethiopia, , om, Itiyoophiyaa, so, Itoobiya, ti, ኢትዮጵያ, Ítiyop'iya, aa, Itiyoppiya officially the Federal Democratic Republic of Ethiopia, is a landlocked country in the Horn of Africa. It shares borders with Eritrea to the ...
is E-M35. E-M35 in turn has two known branches,
E-V68 and
E-Z827, which contain by far the majority of all modern E-M215 subclade bearers. The E-V257 and E-V68 subclades each respectively their highest frequencies in
North Africa
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
and the
Horn of Africa
The Horn of Africa (HoA), also known as the Somali Peninsula, is a large peninsula and geopolitical region in East Africa.Robert Stock, ''Africa South of the Sahara, Second Edition: A Geographical Interpretation'', (The Guilford Press; 2004), ...
, and also at lower percentages in parts of the
Middle East
The Middle East ( ar, الشرق الأوسط, ISO 233: ) is a geopolitical region commonly encompassing Arabian Peninsula, Arabia (including the Arabian Peninsula and Bahrain), Anatolia, Asia Minor (Asian part of Turkey except Hatay Pro ...
and
Europe
Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a Continent#Subcontinents, subcontinent of Eurasia ...
, and in isolated populations of
Southern Africa
Southern Africa is the southernmost subregion of the African continent, south of the Congo and Tanzania. The physical location is the large part of Africa to the south of the extensive Congo River basin. Southern Africa is home to a number of ...
.
Origins
The origins of E-M215 were dated by Cruciani in 2007 to about 22,400 years ago in the
Horn of Africa
The Horn of Africa (HoA), also known as the Somali Peninsula, is a large peninsula and geopolitical region in East Africa.Robert Stock, ''Africa South of the Sahara, Second Edition: A Geographical Interpretation'', (The Guilford Press; 2004), ...
.
[ For E-M215 reduced their estimate to 22,400 from 25,600 in , re-calibrating the same data.] E-M35 was dated by Batini in 2015 to between 15,400 and 20,500 years ago.
[Large-scale recent expansion of European patrilineages shown by population resequencing](_blank)
Chiara Batini et al, ''nature.com'', 2015 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
Northeast Africa
Northeast Africa, or ''Northeastern Africa'' or Northern East Africa as it was known in the past, is a geographic regional term used to refer to the countries of Africa situated in and around the Red Sea. The region is intermediate between North ...
, where the node separating the E-V38 and E-M215 branches occurs about 47,500 years ago (95% CI: 41.3–56.8 ka).
[Trombetta et al. 2015]
Phylogeographic refinement and large scale genotyping of human Y chromosome haplogroup E provide new insights into the dispersal of early pastoralists in the African continent
/ref>
All major sub-branches of E-M35 are thought to have originated in the same general area as the parent clade: in North Africa
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
, the Horn of Africa
The Horn of Africa (HoA), also known as the Somali Peninsula, is a large peninsula and geopolitical region in East Africa.Robert Stock, ''Africa South of the Sahara, Second Edition: A Geographical Interpretation'', (The Guilford Press; 2004), ...
, or nearby areas of the Near East
The ''Near East''; he, המזרח הקרוב; arc, ܕܢܚܐ ܩܪܒ; fa, خاور نزدیک, Xāvar-e nazdik; tr, Yakın Doğu is a geographical term which roughly encompasses a transcontinental region in Western Asia, that was once the hist ...
. 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, associates the spread of the haplogroup with the Neolithic Revolution
The Neolithic Revolution, or the (First) Agricultural Revolution, was the wide-scale transition of many human cultures during the Neolithic period from a lifestyle of hunting and gathering to one of agriculture and settlement, making an incre ...
, 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
The Neolithic period, or New Stone Age, is an Old World archaeological period and the final division of the Stone Age. It saw the Neolithic Revolution, a wide-ranging set of developments that appear to have arisen independently in several parts ...
agricultural expansion". 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. Two more E-M78 have been found in the Neolithic Sopot
Sopot is a seaside resort city in Pomerelia on the southern coast of the Baltic Sea in northern Poland, with a population of approximately 40,000. It is located in Pomeranian Voivodeship, and has the status of the county, being the smallest city ...
and Lengyel culture
__NOTOC__
The Lengyel culture is an archaeological culture of the European Neolithic, centered on the Middle Danube in Central Europe. It flourished from 5000 to 4000 BC, ending with phase IV, e.g., in Bohemia represented by the ' Jordanow/Jorda ...
s too.
Concerning E-M35 in Europe
Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a Continent#Subcontinents, subcontinent of Eurasia ...
within this scheme, have remarked that E-M215 seems to represent a late-Pleistocene
The Pleistocene ( , often referred to as the ''Ice age'') is the geological Epoch (geology), epoch that lasted from about 2,580,000 to 11,700 years ago, spanning the Earth's most recent period of repeated glaciations. Before a change was fina ...
migration from North Africa to Europe over the Sinai Peninsula
The Sinai Peninsula, or simply Sinai (now usually ) (, , cop, Ⲥⲓⲛⲁ), is a peninsula in Egypt, and the only part of the country located in Asia. It is between the Mediterranean Sea to the north and the Red Sea to the south, and is a l ...
in Egypt
Egypt ( ar, مصر , ), officially the Arab Republic of Egypt, is a transcontinental country spanning the northeast corner of Africa and southwest corner of Asia via a land bridge formed by the Sinai Peninsula. It is bordered by the Mediter ...
.["Y chromosome data show a signal for a separate late-Pleistocene migration from Africa to Europe via Sinai as evidenced through the distribution of haplogroup E3b lineages, which is not manifested in mtDNA haplogroup distributions."] While this proposal remains uncontested, it has more recently been proposed by 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
The Natufian culture () is a Late Epipaleolithic archaeological culture of the Levant, dating to around 15,000 to 11,500 years ago. The culture was unusual in that it supported a sedentary or semi-sedentary population even before the introduction ...
skeletal remains from the ancient Levant
The Levant () is an approximate historical geographical term referring to a large area in the Eastern Mediterranean region of Western Asia. In its narrowest sense, which is in use today in archaeology and other cultural contexts, it is eq ...
predominantly carried the Y-DNA haplogroup E1b1b. Of the five Natufian specimens analysed for paternal lineages, three belonged to the E1b1b1b2(xE1b1b1b2a,E1b1b1b2b), E1b1(xE1b1a1,E1b1b1b1) and E1b1b1b2(xE1b1b1b2a,E1b1b1b2b) subclades (60%). Haplogroup E1b1b was also found at moderate frequencies among fossils from the ensuing Pre-Pottery Neolithic B
Pre-Pottery Neolithic B (PPNB) is part of the Pre-Pottery Neolithic, a Neolithic culture centered in upper Mesopotamia and the Levant, dating to years ago, that is, 8800–6500 BC. It was typed by British archaeologist Kathleen Kenyon during h ...
culture, with the E1b1b1 and E1b1b1b2(xE1b1b1b2a,E1b1b1b2b) subclades observed in two of seven PPNB specimens (~29%). The scientists suggest that the Levantine early farmers may have spread southward into East Africa, bringing along Western Eurasian and Basal Eurasian Basal Eurasian is a hypothetical lineage of anatomically modern humans with reduced, or zero, archaic hominin (Neanderthal) admixture compared to other ancient non-Africans. Basal Eurasians may originate from the Middle East or North Africa, and ar ...
ancestral components separate from that which would arrive later in North Africa.
Additionally, haplogroup E1b1b1 has been found in an ancient Egyptian mummy excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which dates from a period between the late New Kingdom
New is an adjective referring to something recently made, discovered, or created.
New or NEW may refer to:
Music
* New, singer of K-pop group The Boyz
Albums and EPs
* ''New'' (album), by Paul McCartney, 2013
* ''New'' (EP), by Regurgitator, ...
and the Roman era
In modern historiography, ancient Rome refers to Roman civilisation from the founding of the city of Rome in the 8th century BC to the collapse of the Western Roman Empire in the 5th century AD. It encompasses the Roman Kingdom (753–509 BC ...
. Fossils at the Iberomaurusian
The Iberomaurusian is a backed bladelet lithic industry found near the coasts of Morocco, Algeria, and Tunisia. It is also known from a single major site in Libya, the Haua Fteah, where the industry is locally known as the Eastern Oranian.The " ...
site of Ifri n'Amr or Moussa in Morocco
Morocco (),, ) officially the Kingdom of Morocco, is the westernmost country in the Maghreb region of North Africa. It overlooks the Mediterranean Sea to the north and the Atlantic Ocean to the west, and has land borders with Algeria to ...
, which have been dated to around 5,000 BCE, also carried haplotypes related to the E1b1b1b1a (E-M81) subclade. These ancient individuals bore an autochthonous Maghrebi genomic component that peaks among modern North Africans
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in t ...
, indicating that they were ancestral to populations in the area. The E1b1b haplogroup has likewise been observed in ancient Guanche Guanche may refer to:
*Guanches, the indigenous people of the Canary Islands
*Guanche language
Guanche is an extinct language that was spoken by the Guanches of the Canary Islands until the 16th or 17th century. It died out after the conquest ...
fossils excavated in Gran Canaria
Gran Canaria (, ; ), also Grand Canary Island, is the third-largest and second-most-populous island of the Canary Islands, an archipelago off the Atlantic coast of Northwest Africa which is part of Spain. the island had a population of that co ...
and Tenerife
Tenerife (; ; formerly spelled ''Teneriffe'') is the largest and most populous island of the Canary Islands. It is home to 43% of the total population of the archipelago. With a land area of and a population of 978,100 inhabitants as of Janu ...
on the Canary Islands
The Canary Islands (; es, Canarias, ), also known informally as the Canaries, are a Spanish autonomous community and archipelago in the Atlantic Ocean, in Macaronesia. At their closest point to the African mainland, they are west of Morocc ...
, which have been radiocarbon-dated to between the 7th and 11th centuries CE. The clade-bearing individuals that were analysed for paternal DNA were inhumed at the Tenerife site, with all of these specimens found to belong to the E1b1b1b1a1 or E-M183 subclade (3/3; 100%).
Loosdrecht et al. (2018) analysed genome-wide data from seven ancient Iberomaurusian
The Iberomaurusian is a backed bladelet lithic industry found near the coasts of Morocco, Algeria, and Tunisia. It is also known from a single major site in Libya, the Haua Fteah, where the industry is locally known as the Eastern Oranian.The " ...
individuals from the ''Grotte des Pigeons'' near Taforalt
Taforalt or Grotte des Pigeons is a cave in the province of Berkane, Aït Iznasen region, Morocco, possibly the oldest cemetery in North Africa (Humphrey ''et al.'' 2012). It contained at least 34 Iberomaurusian adolescent and adult human skele ...
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 belonged to the E1b1b1a1 (M78) subclade, with one skeleton bearing the E1b1b1a1b1 parent lineage to E-V13, another male specimen belonged to E1b1b (M215*).
Distribution
In Africa, E-M215 is distributed in highest frequencies in the Horn of Africa
The Horn of Africa (HoA), also known as the Somali Peninsula, is a large peninsula and geopolitical region in East Africa.Robert Stock, ''Africa South of the Sahara, Second Edition: A Geographical Interpretation'', (The Guilford Press; 2004), ...
and North Africa
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
, specifically in the countries Somalia
Somalia, , Osmanya script: 𐒈𐒝𐒑𐒛𐒐𐒘𐒕𐒖; ar, الصومال, aṣ-Ṣūmāl officially the Federal Republic of SomaliaThe ''Federal Republic of Somalia'' is the country's name per Article 1 of thProvisional Constituti ...
and Morocco
Morocco (),, ) officially the Kingdom of Morocco, is the westernmost country in the Maghreb region of North Africa. It overlooks the Mediterranean Sea to the north and the Atlantic Ocean to the west, and has land borders with Algeria to ...
, whence it has in recent millennia expanded as far south as South Africa
South Africa, officially the Republic of South Africa (RSA), is the southernmost country in Africa. It is bounded to the south by of coastline that stretch along the South Atlantic and Indian Oceans; to the north by the neighbouring countri ...
, and northwards into Western Asia
Western Asia, West Asia, or Southwest Asia, is the westernmost subregion of the larger geographical region of Asia, as defined by some academics, UN bodies and other institutions. It is almost entirely a part of the Middle East, and includes Ana ...
and Europe
Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a Continent#Subcontinents, subcontinent of Eurasia ...
(especially the Mediterranean
The Mediterranean Sea is a sea connected to the Atlantic Ocean, surrounded by the Mediterranean Basin and almost completely enclosed by land: on the north by Western and Southern Europe and Anatolia, on the south by North Africa, and on the e ...
and the Balkans
The Balkans ( ), also known as the Balkan Peninsula, is a geographical area in southeastern Europe with various geographical and historical definitions. The region takes its name from the Balkan Mountains that stretch throughout the who ...
).
Almost all E-M215 men are also in E-M35. In 2004, M215 was found to be older than M35 when individuals were found who have the M215 mutation, but do not have M35 mutation.[
In 2013, one individual in Khorasan, North-East Iran, was found b]
Di Cristofaro et al. (2013)
to be positive for M215 but negative for M35.
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
The Afroasiatic ''Urheimat'' is the hypothetical place where speakers of the proto-Afroasiatic language lived in a single linguistic community, or complex of communities, before this original language dispersed geographically and divided into sep ...
. Amongst populations with an Afro-Asiatic speaking history, a significant proportion of Jewish
Jews ( he, יְהוּדִים, , ) or Jewish people are an ethnoreligious group and nation originating from the Israelites Israelite origins and kingdom: "The first act in the long drama of Jewish history is the age of the Israelites""The ...
male lineages are E-M35. Haplogroup E-M35, which accounts for approximately 18% to 20% of Ashkenazi
Ashkenazi Jews ( ; he, יְהוּדֵי אַשְׁכְּנַז, translit=Yehudei Ashkenaz, ; yi, אַשכּנזישע ייִדן, Ashkenazishe Yidn), also known as Ashkenazic Jews or ''Ashkenazim'',, Ashkenazi Hebrew pronunciation: , singu ...
and 8.6% to 30% of Sephardi
Sephardic (or Sephardi) Jews (, ; lad, Djudíos Sefardíes), also ''Sepharadim'' , Modern Hebrew: ''Sfaradim'', Tiberian Hebrew, Tiberian: Səp̄āraddîm, also , ''Ye'hude Sepharad'', lit. "The Jews of Spain", es, Judíos sefardíes (or ), ...
Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.["Paragroup E-M35 * and haplogroup J-12f2a* fit the criteria for major AJ founding lineages because they are widespread both in AJ populations and in Near Eastern populations, and occur at much lower frequencies in European non-Jewish populations." ]
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.
E-M215 association with endurance
Moran et al. (2004) observed that among Y-DNA (paternal) clades borne by elite endurance athletes in Ethiopia, the haplogroup E3b1 was negatively correlated with elite athletic endurance performance, whereas the haplogroups E*, E3*, K*(xP), and J*(xJ2) were significantly more frequent among the elite endurance athletes.
Subclades of E-M215
Cladogram with the main subclades:
Family tree
The following phylogenetic tree
A phylogenetic tree (also phylogeny or evolutionary tree Felsenstein J. (2004). ''Inferring Phylogenies'' Sinauer Associates: Sunderland, MA.) is a branching diagram or a tree showing the evolutionary relationships among various biological spec ...
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)
*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)[ISOGG 2015]
****E-V257/L19 (L19, V257) – E1b1b1b1
*****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
***** 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.
Exceptional cases of men who are M215 positive but M35 negative ("E-M215*") have been discovered so far in two Amharas
Amharas ( am, አማራ, Āmara; gez, ዐምሐራ, ʾÄməḥära) are a Semitic-speaking ethnic group which is indigenous to Ethiopia, traditionally inhabiting parts of the northwest Highlands of Ethiopia, particularly inhabiting the Amhara ...
of Ethiopia and one Yemen
Yemen (; ar, ٱلْيَمَن, al-Yaman), officially the Republic of Yemen,, ) is a country in Western Asia. It is situated on the southern end of the Arabian Peninsula, and borders Saudi Arabia to the Saudi Arabia–Yemen border, north and ...
i. 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. The discovery of M281 was announced by , who found it in two Ethiopian Oromo. 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*.[(Figure S.7) J D Cristofaro et al., 2013, "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0076748] 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
E-M215, also known as E1b1b and formerly E3b, is a major human Y-chromosome DNA haplogroup. It is a division of the macro- haplogroup E-M96, which is defined by the single-nucleotide polymorphism (SNP) mutation M215. In other words, it is one of ...
, 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.
TMRCA of the major nodes in E-M215
E-V68 (E1b1b1a)
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
Sardinia ( ; it, Sardegna, label=Italian, Corsican and Tabarchino ; sc, Sardigna , sdc, Sardhigna; french: Sardaigne; sdn, Saldigna; ca, Sardenya, label=Algherese and Catalan) is the second-largest island in the Mediterranean Sea, after ...
, by , 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
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
, the Horn of Africa
The Horn of Africa (HoA), also known as the Somali Peninsula, is a large peninsula and geopolitical region in East Africa.Robert Stock, ''Africa South of the Sahara, Second Edition: A Geographical Interpretation'', (The Guilford Press; 2004), ...
, West Asia
Western Asia, West Asia, or Southwest Asia, is the westernmost subregion of the larger geographical region of Asia, as defined by some academics, UN bodies and other institutions. It is almost entirely a part of the Middle East, and includes Ana ...
, (the Middle East and Near East) "up to Southern Asia",[ and all of ]Europe
Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a Continent#Subcontinents, subcontinent of Eurasia ...
. The European distribution has a frequency peak centered in parts of the Balkans
The Balkans ( ), also known as the Balkan Peninsula, is a geographical area in southeastern Europe with various geographical and historical definitions. The region takes its name from the Balkan Mountains that stretch throughout the who ...
(up to almost 50% in some areas) and Sicily, and declining frequencies evident toward western, central, and northeastern Europe.
Based on genetic STR variance data, suggests that E-M78 originated in the region of Egypt
Egypt ( ar, مصر , ), officially the Arab Republic of Egypt, is a transcontinental country spanning the northeast corner of Africa and southwest corner of Asia via a land bridge formed by the Sinai Peninsula. It is bordered by the Mediter ...
and Libya
Libya (; ar, ليبيا, Lībiyā), officially the State of Libya ( ar, دولة ليبيا, Dawlat Lībiyā), is a country in the Maghreb region in North Africa. It is bordered by the Mediterranean Sea to the north, Egypt to Egypt–Libya bo ...
.[ use the term Northeastern Africa to refer to Egypt and Libya, as shown in Table 1 of the study. Prior to , East Africa as a possible place of origin of E-M78, based upon Ethiopian testing. This was because of the high frequency and diversity of E-M78 lineages in the region of Ethiopia. However, were able to study more data, including populations from North Africa who were not represented in the study, and found evidence that the E-M78 lineages which make up a significant proportion of some populations in that region, were relatively young branches (see E-V32 below). They therefore concluded that "Northeast Africa" was the likely place of origin of E-M78 based on "the peripheral geographic distribution of the most derived subhaplogroups with respect to northeastern Africa, as well as the results of quantitative analysis of UEP and microsatellite diversity". So according to E-M35, the parent clade of E-M78, originated in East Africa, subsequently spread to Northeast Africa, and then there was a "back migration" of E-M215 chromosomes that had acquired the E-M78 mutation. therefore note this as evidence for "a corridor for bidirectional migrations" between Northeast Africa (Egypt and Libya in their data) on the one hand and East Africa on the other. The authors believe there were "at least 2 episodes between 23.9–17.3 ky and 18.0–5.9 ky ago".] about 18,600 years ago (17,300 – 20,000 years ago).[ use two calculation methods for estimating the age of E-M78 which give very different results. For the main 18,600 years ago, the ASD method is used, while for a second " ρ method", used as a check, gives 13.7kya with a ]standard deviation
In statistics, the standard deviation is a measure of the amount of variation or dispersion of a set of values. A low standard deviation indicates that the values tend to be close to the mean (also called the expected value) of the set, while ...
of 2.3kya, but the difference between the two methods is only large for the age estimation of E-M78, not its subclades. The authors state that the big difference is "attributable to the relevant departure from a star-like structure because of repeated founder effects
In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using ...
" 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
Sudan ( or ; ar, السودان, as-Sūdān, officially the Republic of the Sudan ( ar, جمهورية السودان, link=no, Jumhūriyyat as-Sūdān), is a country in Northeast Africa. It shares borders with the Central African Republic t ...
and Egypt, near Lake Nubia
A lake is an area filled with water, localized in a basin, surrounded by land, and distinct from any river or other outlet that serves to feed or drain the lake. Lakes lie on land and are not part of the ocean, although, like the much larger ...
, 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
The Mesolithic (Greek: μέσος, ''mesos'' 'middle' + λίθος, ''lithos'' 'stone') or Middle Stone Age is the Old World archaeological period between the Upper Paleolithic and the Neolithic. The term Epipaleolithic is often used synonymous ...
foragers northwards in Africa, the Levant
The Levant () is an approximate historical geographical term referring to a large area in the Eastern Mediterranean region of Western Asia. In its narrowest sense, which is in use today in archaeology and other cultural contexts, it is eq ...
and ultimately onward to Asia Minor
Anatolia, tr, Anadolu Yarımadası), and the Anatolian plateau, also known as Asia Minor, is a large peninsula in Western Asia and the westernmost protrusion of the Asian continent. It constitutes the major part of modern-day Turkey. The re ...
and Europe, where they each eventually differentiated into their regionally distinctive branches". Towards the south, 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, 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.
Subclades of E-M78
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.
*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 and in one individual from the Eastern Alpine region of Italy b
Coia et al. (2013)
E-Z827 (E1b1b1b)
In human genetics, E-Z827, is the name of a major human Y-chromosome DNA haplogroup
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non- recombining portions of DNA from the male-specific Y chromosome (called Y-DNA). Many people within a haplogroup share similar numbers of sh ...
abundantly found in North Africa, particularly the Maghreb
The Maghreb (; ar, الْمَغْرِب, al-Maghrib, lit=the west), also known as the Arab Maghreb ( ar, المغرب العربي) and Northwest Africa, is the western part of North Africa and the Arab world. The region includes Algeria, ...
, and to a lesser extent in Horn of Africa
The Horn of Africa (HoA), also known as the Somali Peninsula, is a large peninsula and geopolitical region in East Africa.Robert Stock, ''Africa South of the Sahara, Second Edition: A Geographical Interpretation'', (The Guilford Press; 2004), ...
, the Near East
The ''Near East''; he, המזרח הקרוב; arc, ܕܢܚܐ ܩܪܒ; fa, خاور نزدیک, Xāvar-e nazdik; tr, Yakın Doğu is a geographical term which roughly encompasses a transcontinental region in Western Asia, that was once the hist ...
and Europe
Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a Continent#Subcontinents, subcontinent of Eurasia ...
.
E-V257/E-L19 (E1b1b1b1)
E-V257* individuals in their samples who were E-V257, but not E-M81. A Borana from Kenya, a Marrakesh Berber, a Corsican, a Sardinian, a southern Spaniard and a Cantabrian. As mentioned above, propose that the absence of E-V257* in the Middle East (Yfull found a young one in Iranian Azerbaijan
Azerbaijan or Azarbaijan ( fa, آذربایجان, ''Āzarbāijān'' ; az-Arab, آذربایجان, ''Āzerbāyjān'' ), also known as Iranian Azerbaijan, is a historical region in northwestern Iran that borders Iraq, Turkey, the Nakhchivan ...
and a different young one in Armenia) makes a maritime movement from northern Africa to southern Europe the most plausible hypothesis so far to explain its distribution. Yfull lists 24 individuals, all of whom belong to a single branch that is 30% younger than their common ancestor with M81.
=E-M81
=
E-M81 is the most common subclade of haplogroup E-L19/V257. It is concentrated in the Maghreb
The Maghreb (; ar, الْمَغْرِب, al-Maghrib, lit=the west), also known as the Arab Maghreb ( ar, المغرب العربي) and Northwest Africa, is the western part of North Africa and the Arab world. The region includes Algeria, ...
, and is dominated by its E-M183 subclade. E-M183 is believed to have originated in the Northwest Africa and has an estimated age of 4700 ybp.
This haplogroup reaches a mean frequency of 61% in the Maghreb
The Maghreb (; ar, الْمَغْرِب, al-Maghrib, lit=the west), also known as the Arab Maghreb ( ar, المغرب العربي) and Northwest Africa, is the western part of North Africa and the Arab world. The region includes Algeria, ...
and 51% in North Africa
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
, decreasing in frequency from approximately 80% to 100% in Berber populations, including Saharawis, to approximately 29% to the east of this range in Egypt. Because of its young age and prevalence among these groups and also others such as Mozabite, Middle Atlas
The Middle Atlas (Amazigh: ⴰⵟⵍⴰⵙ ⴰⵏⴰⵎⵎⴰⵙ, ''Atlas Anammas'', Arabic: الأطلس المتوسط, ''al-Aṭlas al-Mutawassiṭ'') is a mountain range in Morocco. It is part of the Atlas mountain range, a mountainous region ...
, Kabyle and other Berber groups, it is sometimes referred to as a genetic "Berber marker". report high levels amongst Tuareg
The Tuareg people (; also spelled Twareg or Touareg; endonym: ''Imuhaɣ/Imušaɣ/Imašeɣăn/Imajeɣăn'') are a large Berber ethnic group that principally inhabit the Sahara in a vast area stretching from far southwestern Libya to southern A ...
in two Sahara
, photo = Sahara real color.jpg
, photo_caption = The Sahara taken by Apollo 17 astronauts, 1972
, map =
, map_image =
, location =
, country =
, country1 =
, ...
n populations – 77.8% near Gorom-Gorom
Gorom-Gorom is a town in northern Burkina Faso. Its name translates as "''you sit down, (and) we'll sit down''", reminiscent of its role as an important crossroads in the Sahel. It is the capital of Oudalan Province.
Known for its market and man ...
, in Burkina Faso
Burkina Faso (, ; , ff, 𞤄𞤵𞤪𞤳𞤭𞤲𞤢 𞤊𞤢𞤧𞤮, italic=no) is a landlocked country in West Africa with an area of , bordered by Mali to the northwest, Niger to the northeast, Benin to the southeast, Togo and Ghana to the ...
, and 81.8% from Gosi in Mali
Mali (; ), officially the Republic of Mali,, , ff, 𞤈𞤫𞤲𞥆𞤣𞤢𞥄𞤲𞤣𞤭 𞤃𞤢𞥄𞤤𞤭, Renndaandi Maali, italics=no, ar, جمهورية مالي, Jumhūriyyāt Mālī is a landlocked country in West Africa. Mali ...
. There was a much lower frequency of 11.1% in the vicinity of Tanut
Tanit (Punic: 𐤕𐤍𐤕 ''Tīnīt'') was a Punic goddess. She was the chief deity of Carthage alongside her consort Baal-Hamon.
Tanit is also called Tinnit. The name appears to have originated in Carthage (modern day Tunisia), though it does n ...
in Niger
)
, official_languages =
, languages_type = National languages[Maghrebi Arabic
Maghrebi Arabic (, Western Arabic; as opposed to Eastern or Mashriqi Arabic) is a vernacular Arabic dialect continuum spoken in the Maghreb region, in Morocco, Algeria, Tunisia, Libya, Western Sahara, and Mauritania. It includes Moroccan, Alger ...](_blank)
-speaking groups. It is generally found at frequencies around 45% in coastal cities of Algeria
)
, image_map = Algeria (centered orthographic projection).svg
, map_caption =
, image_map2 =
, capital = Algiers
, coordinates =
, largest_city = capital
, relig ...
and Tunisia
)
, image_map = Tunisia location (orthographic projection).svg
, map_caption = Location of Tunisia in northern Africa
, image_map2 =
, capital = Tunis
, largest_city = capital
, ...
(Jijel
Jijel ( ar, جيجل), the classical Igilgili, is the capital of Jijel Province in north-eastern Algeria. It is flanked by the Mediterranean Sea in the region of Corniche Jijelienne and had a population of 131,513 in 2008.
Jijel is the administra ...
, Oran
Oran ( ar, وَهران, Wahrān) is a major coastal city located in the north-west of Algeria. It is considered the second most important city of Algeria after the capital Algiers, due to its population and commercial, industrial, and cultural ...
, Tizi Ouzou
Tizi Ouzou or Thizi Wezzu (, Kabyle: Tizi Wezzu) is a city in north central Algeria. It is among the largest cities in Algeria. It is the second most populous city in the Kabylie region after Bejaia.
History
Etymology
The name ''Tizi Ouzou' ...
, Algiers
Algiers ( ; ar, الجزائر, al-Jazāʾir; ber, Dzayer, script=Latn; french: Alger, ) is the capital and largest city of Algeria. The city's population at the 2008 Census was 2,988,145Census 14 April 2008: Office National des Statistiques ...
, Tunis
''Tounsi'' french: Tunisois
, population_note =
, population_urban =
, population_metro = 2658816
, population_density_km2 =
, timezone1 = CET
, utc_offset1 ...
, Sousse
Sousse or Soussa ( ar, سوسة, ; Berber:''Susa'') is a city in Tunisia, capital of the Sousse Governorate. Located south of the capital Tunis, the city has 271,428 inhabitants (2014). Sousse is in the central-east of the country, on the Gulf ...
).
In this key area from Egypt to the Atlantic Ocean
The Atlantic Ocean is the second-largest of the world's five oceans, with an area of about . It covers approximately 20% of Earth's surface and about 29% of its water surface area. It is known to separate the " Old World" of Africa, Europe ...
, report a M183-SM001 pattern of decreasing microsatellite
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. ...
haplotype variation (implying greater lineage age in the former areas) from the Reguibat tribe
The Reguibat ( ar, الرقيبات; variously transliterated ''Reguibate'', ''Rguibat'', ''R'gaybat'', ''R'gibat'', ''Erguibat'', ''Ergaybat'') is a Sahrawi people, Sahrawi tribe of Sanhaja-Berbers, Berber origins. The Reguibat speak Hassaniya Ar ...
in Oran
Oran ( ar, وَهران, Wahrān) is a major coastal city located in the north-west of Algeria. It is considered the second most important city of Algeria after the capital Algiers, due to its population and commercial, industrial, and cultural ...
and they found M183* (not SM001) in Iberia, Libya and Morocco. however showed microsatellite variation decrease from East to West, accompanied by a substantial increasing frequency. At the eastern extreme of this core range, found M81 in 28.6% (10 out of 35 men) in el-Hayez in the Libyan Desert
The Libyan Desert (not to be confused with the Libyan Sahara) is a geographical region filling the north-eastern Sahara Desert, from eastern Libya to the Western Desert of Egypt and far northwestern Sudan. On medieval maps, its use predates t ...
in Egypt.
believe the pattern of distribution and variance to be consistent with the hypothesis of a "demic diffusion
Demic diffusion, as opposed to trans-cultural diffusion, is a demographic term referring to a migratory model, developed by Luigi Luca Cavalli-Sforza, of population diffusion into and across an area that had been previously uninhabited by that gro ...
" from the East. There is no autochthonous presence of E-M81 in the Near East (there is one in Lebanon), indicating that M81 most likely emerged from its parent clade M35 either in North Africa, or possibly as far south as the Horn of Africa.
In Europe, E-M81 is widespread but rare, in the Iberian Peninsula
The Iberian Peninsula (),
**
* Aragonese and Occitan: ''Peninsula Iberica''
**
**
* french: Péninsule Ibérique
* mwl, Península Eibérica
* eu, Iberiar penintsula also known as Iberia, is a peninsula in southwestern Europe, defi ...
shows an average frequency of 4% (45/1140) in the Iberian Peninsula with frequencies reaching 3.5% in Galicia, 4% in Western Andalusia
Andalusia (, ; es, Andalucía ) is the southernmost Autonomous communities of Spain, autonomous community in Peninsular Spain. It is the most populous and the second-largest autonomous community in the country. It is officially recognised as a ...
and Northwest Castile. However this study includes 153 individuals from Majorca, Minorca and Ibiza islands as well as 24 individuals from Gascony which are not in the Iberian Peninsula. Without these 177 individuals, average for Iberian Peninsula is 4.1% (40/963), it is found at comparable levels to E-M78, with an average frequency of around 5%. Its frequencies are higher in the western half of the peninsula with frequencies reaching 8% in Extremadura
Extremadura (; ext, Estremaúra; pt, Estremadura; Fala: ''Extremaúra'') is an autonomous community of Spain. Its capital city is Mérida, and its largest city is Badajoz. Located in the central-western part of the Iberian Peninsula, it ...
and southern Portugal, 4% to 5% in Galicia, 5% in western Andalusia
Andalusia (, ; es, Andalucía ) is the southernmost Autonomous communities of Spain, autonomous community in Peninsular Spain. It is the most populous and the second-largest autonomous community in the country. It is officially recognised as a ...
and 4% in northwest Castile and 9% to 17% in Cantabria
Cantabria (, also , , Cantabrian: ) is an autonomous community in northern Spain with Santander as its capital city. It is called a ''comunidad histórica'', a historic community, in its current Statute of Autonomy. It is bordered on the east ...
. The highest frequencies of this clade found so far in Europe were observed in the Valles Pasiegos
Valles Pasiegos is an administrative ''comarca'' in Cantabria, Spain. It is formed by the valleys of the Pas and Miera rivers, each one being a natural ''comarca'' of its own.
History
In the whole valley, the repopulation allowed by the found ...
from Cantabria
Cantabria (, also , , Cantabrian: ) is an autonomous community in northern Spain with Santander as its capital city. It is called a ''comunidad histórica'', a historic community, in its current Statute of Autonomy. It is bordered on the east ...
, ranging from 5.5% (8/45) to 41% (23/56).[ An average frequency of 8.28% (54/652) has also been reported in the Spanish ]Canary Islands
The Canary Islands (; es, Canarias, ), also known informally as the Canaries, are a Spanish autonomous community and archipelago in the Atlantic Ocean, in Macaronesia. At their closest point to the African mainland, they are west of Morocc ...
with frequencies over 10% in the three largest islands of Tenerife
Tenerife (; ; formerly spelled ''Teneriffe'') is the largest and most populous island of the Canary Islands. It is home to 43% of the total population of the archipelago. With a land area of and a population of 978,100 inhabitants as of Janu ...
(10.68%), Gran Canaria
Gran Canaria (, ; ), also Grand Canary Island, is the third-largest and second-most-populous island of the Canary Islands, an archipelago off the Atlantic coast of Northwest Africa which is part of Spain. the island had a population of that co ...
(11.54%) and Fuerteventura
Fuerteventura () is one of the Canary Islands, in the Atlantic Ocean, part of the North Africa region, and politically part of Spain. It is located away from the northwestern coast of Africa. The island was declared a biosphere reserve by UNES ...
(13.33%).
E-M81 is also found in France
France (), officially the French Republic ( ), is a country primarily located in Western Europe. It also comprises of Overseas France, overseas regions and territories in the Americas and the Atlantic Ocean, Atlantic, Pacific Ocean, Pac ...
,[ 2.70% (15/555) overall with frequencies surpassing 5% in ]Auvergne
Auvergne (; ; oc, label=Occitan, Auvèrnhe or ) is a former administrative region in central France, comprising the four departments of Allier, Puy-de-Dôme, Cantal and Haute-Loire. Since 1 January 2016, it has been part of the new region Auverg ...
(5/89) and Île-de-France
, timezone1 = CET
, utc_offset1 = +01:00
, timezone1_DST = CEST
, utc_offset1_DST = +02:00
, blank_name_sec1 = Gross regional product
, blank_info_sec1 = Ranked 1st
, bla ...
(5/91), 0,7% to 5,8% in Sardinia
Sardinia ( ; it, Sardegna, label=Italian, Corsican and Tabarchino ; sc, Sardigna , sdc, Sardhigna; french: Sardaigne; sdn, Saldigna; ca, Sardenya, label=Algherese and Catalan) is the second-largest island in the Mediterranean Sea, after ...
, approximately 2.12% overall in Sicily
(man) it, Siciliana (woman)
, population_note =
, population_blank1_title =
, population_blank1 =
, demographics_type1 = Ethnicity
, demographics1_footnotes =
, demographi ...
(but up to 7.14% in Piazza Armerina
Piazza Armerina (Gallo-Italic of Sicily: ''Ciazza''; Sicilian: ''Chiazza'') is a ''comune'' in the province of Enna of the autonomous island region of Sicily, southern Italy.
History
The city of Piazza (as it was called before 1862) developed d ...
), and in very much lower frequency near Lucera
Lucera ( Lucerino: ) is an Italian city of 34,243 inhabitants in the province of Foggia in the region of Apulia, and the seat of the Diocese of Lucera-Troia.
Located upon a flat knoll in the Tavoliere Plains, near the foot of Daunian Mountain ...
(1.7%), in continental Italy
Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical re ...
, possibly due to ancient migrations during the Islamic
Islam (; ar, ۘالِإسلَام, , ) is an Abrahamic monotheistic religion centred primarily around the Quran, a religious text considered by Muslims to be the direct word of God (or '' Allah'') as it was revealed to Muhammad, the mai ...
, Roman
Roman or Romans most often refers to:
*Rome, the capital city of Italy
*Ancient Rome, Roman civilization from 8th century BC to 5th century AD
*Roman people, the people of ancient Rome
*''Epistle to the Romans'', shortened to ''Romans'', a letter ...
, and Carthaginian The term Carthaginian ( la, Carthaginiensis ) usually refers to a citizen of Ancient Carthage.
It can also refer to:
* Carthaginian (ship), a three-masted schooner built in 1921
* Insurgent privateers; nineteenth-century South American privateers, ...
empires. In a 2014 study by Stefania Sarno et al. with 326 samples from Cosenza
Cosenza (; local dialect: ''Cusenza'', ) is a city in Calabria, Italy. The city centre has a population of approximately 70,000; the urban area counts more than 200,000 inhabitants. It is the capital of the Province of Cosenza, which has a populati ...
, Reggio Calabria
Reggio di Calabria ( scn, label= Southern Calabrian, Riggiu; el, label= Calabrian Greek, Ρήγι, Rìji), usually referred to as Reggio Calabria, or simply Reggio by its inhabitants, is the largest city in Calabria. It has an estimated popul ...
, Lecce
Lecce ( ); el, label=Griko, Luppìu, script=Latn; la, Lupiae; grc, Λουπίαι, translit=Loupíai), group=pron is a historic city of 95,766 inhabitants (2015) in southern Italy. It is the capital of the province of Lecce, the province ...
and five Sicilian provinces, E-M81 shows an average frequency of 1.53%, but the typical Maghrebin core haplotype 13-14-30-24-9-11-13 has been found in only two out of the five E-M81 individuals. These results, along with the negligible contribution from North-African populations revealed by the admixture-like plot analysis, suggest only a marginal impact of trans-Mediterranean gene flows on the current SSI genetic pool.[
As a result of its old world distribution, this subclade is found throughout ]Brasil
Brazil ( pt, Brasil; ), officially the Federative Republic of Brazil (Portuguese: ), is the largest country in both South America and Latin America. At and with over 217 million people, Brazil is the world's fifth-largest country by area an ...
5.4% in Brazil
Brazil ( pt, Brasil; ), officially the Federative Republic of Brazil (Portuguese: ), is the largest country in both South America and Latin America. At and with over 217 million people, Brazil is the world's fifth-largest country by area ...
(Rio de Janeiro),[(6 out of 112), "The presence of chromosomes of North African origin (E3b1b-M81; Cruciani et al., 2004) can also be explained by a Portuguese but especially Italian-mediated influx, since this haplogroup reaches a frequency of 4.6% in ]Portugal
Portugal, officially the Portuguese Republic ( pt, República Portuguesa, links=yes ), is a country whose mainland is located on the Iberian Peninsula of Southwestern Europe, and whose territory also includes the Atlantic archipelagos of ...
and of 4.8% Italy
Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical re ...
, quite similar to the frequency found in Rio de Janeiro
Rio de Janeiro ( , , ; literally 'River of January'), or simply Rio, is the capital of the state of the same name, Brazil's third-most populous state, and the second-most populous city in Brazil, after São Paulo. Listed by the GaWC as a b ...
(4.4%) among European contributors." and among Hispanic
The term ''Hispanic'' ( es, hispano) refers to people, Spanish culture, cultures, or countries related to Spain, the Spanish language, or Hispanidad.
The term commonly applies to countries with a cultural and historical link to Spain and to Vic ...
men from California
California is a U.S. state, state in the Western United States, located along the West Coast of the United States, Pacific Coast. With nearly 39.2million residents across a total area of approximately , it is the List of states and territori ...
and Hawaii
Hawaii ( ; haw, Hawaii or ) is a state in the Western United States, located in the Pacific Ocean about from the U.S. mainland. It is the only U.S. state outside North America, the only state that is an archipelago, and the only stat ...
2.4%.
In smaller numbers, E-M81 men can be found in areas in contact with North Africa
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
, both around the Sahara
, photo = Sahara real color.jpg
, photo_caption = The Sahara taken by Apollo 17 astronauts, 1972
, map =
, map_image =
, location =
, country =
, country1 =
, ...
, in places like Sudan
Sudan ( or ; ar, السودان, as-Sūdān, officially the Republic of the Sudan ( ar, جمهورية السودان, link=no, Jumhūriyyat as-Sūdān), is a country in Northeast Africa. It shares borders with the Central African Republic t ...
, and around the Mediterranean in places like Lebanon
Lebanon ( , ar, لُبْنَان, translit=lubnān, ), officially the Republic of Lebanon () or the Lebanese Republic, is a country in Western Asia. It is located between Syria to the north and east and Israel to the south, while Cyprus li ...
, Turkey
Turkey ( tr, Türkiye ), officially the Republic of Türkiye ( tr, Türkiye Cumhuriyeti, links=no ), is a list of transcontinental countries, transcontinental country located mainly on the Anatolia, Anatolian Peninsula in Western Asia, with ...
, and amongst Sephardi Jews
Sephardic (or Sephardi) Jews (, ; lad, Djudíos Sefardíes), also ''Sepharadim'' , Modern Hebrew: ''Sfaradim'', Tiberian: Səp̄āraddîm, also , ''Ye'hude Sepharad'', lit. "The Jews of Spain", es, Judíos sefardíes (or ), pt, Judeus sefar ...
.
There are two recognized subclades of E-M81, although one is much more important than the other.
The E-M81 subclade has been found in ancient Guanche Guanche may refer to:
*Guanches, the indigenous people of the Canary Islands
*Guanche language
Guanche is an extinct language that was spoken by the Guanches of the Canary Islands until the 16th or 17th century. It died out after the conquest ...
(Bimbapes) fossils excavated in Punta Azul, El Hierro
El Hierro, nicknamed ''Isla del Meridiano'' (the "Meridian Island"), is the second-smallest and farthest-south and -west of the Canary Islands (an autonomous community of Spain), in the Atlantic Ocean off the coast of Africa, with a populatio ...
, Canary Islands
The Canary Islands (; es, Canarias, ), also known informally as the Canaries, are a Spanish autonomous community and archipelago in the Atlantic Ocean, in Macaronesia. At their closest point to the African mainland, they are west of Morocc ...
, which are dated to the 10th century (~44%).
E-M107
found one example of E-M107 in Mali
Mali (; ), officially the Republic of Mali,, , ff, 𞤈𞤫𞤲𞥆𞤣𞤢𞥄𞤲𞤣𞤭 𞤃𞤢𞥄𞤤𞤭, Renndaandi Maali, italics=no, ar, جمهورية مالي, Jumhūriyyāt Mālī is a landlocked country in West Africa. Mali ...
.
E-M183
E-M183 is extremely dominant (more than 99%) within E-M81. first described it as a subclade of E-M81.
The known subclades of E-M183 include:
*E-M165 found one example in Middle East.
*E-L351 Found in two related participants in Th
E-M35 Phylogeny Project
E-Z830 (E1b1b1b2)
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, 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.
=E-M123
=
E-M123 is mostly known for its major subclade E-M34, which dominates this clade.[As of 11 November 2008 for example]
the E-M35 phylogeny project
had records of four E-M123* tests, compared to 93 test results with E-M34.
=E-V1515
=
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.
E-M293
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 , which associated it with the spread of pastoralism
Pastoralism is a form of animal husbandry where domesticated animals (known as "livestock") are released onto large vegetated outdoor lands (pastures) for grazing, historically by nomadic people who moved around with their herds. The animal ...
from East Africa
East Africa, Eastern Africa, or East of Africa, is the eastern subregion of the African continent. In the United Nations Statistics Division scheme of geographic regions, 10-11-(16*) territories make up Eastern Africa:
Due to the historical ...
into Southern Africa
Southern Africa is the southernmost subregion of the African continent, south of the Congo and Tanzania. The physical location is the large part of Africa to the south of the extensive Congo River basin. Southern Africa is home to a number of ...
. 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 people
The Sandawe are an indigenous ethnic group of Southeast Africa, based in the Chemba District of Dodoma Region in central Tanzania. In 2000, the Sandawe population was estimated to be 40,000.
The Sandawe language is a tonal language that uses ...
s (24%). Henn (2008) in their study also found two Bantu-speaking Kenyan males with the M293 mutation.[
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). announced that this is a subclade of E-M293.
]
E-V42
announced the discovery of E-V42 in two Beta Israel
The Beta Israel ( he, בֵּיתֶא יִשְׂרָאֵל, ''Bēteʾ Yīsrāʾēl''; gez, ቤተ እስራኤል, , modern ''Bēte 'Isrā'ēl'', EAE: "Betä Ǝsraʾel", "House of Israel" or "Community of Israel"), also known as Ethiopian Jews ...
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.
E-V6
The E-V6 subclade of E-V1515 is defined by V6. identified a significant presence of these lineages in Ethiopia and also some in the neighboring Somalis
The Somalis ( so, Soomaalida 𐒈𐒝𐒑𐒛𐒐𐒘𐒆𐒖, ar, صوماليون) are an ethnic group native to the Horn of Africa who share a common ancestry, culture and history. The Lowland East Cushitic Somali language is the shared ...
. Among the Ethiopian and Somali samples, the highest were 14.7% among the Amhara and 16.7% among the Wolayta.
To the south, identified one V6+ man in a sample of 35 Datooga of Tanzania. And further to the north, identified another 6 men in a sample of 93 from the Siwa Oasis
The Siwa Oasis ( ar, واحة سيوة, ''Wāḥat Sīwah,'' ) is an urban oasis in Egypt; between the Qattara Depression and the Great Sand Sea in the Western Desert (Egypt), Western Desert, 50 km (30 mi) east of the Libyan Egypt–Li ...
, which is a Berber population
E-V92
announced the discovery of E-V92 in two Amharas. Like E-V6 and E-V42 it possibly only exists in the area of Ethiopia.
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 (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.
Research publications
The following research teams per their publications were represented in the creation of the YCC Tree.
Discussion
E-M215 and E1b1b1 are the currently accepted names found in the proposals of the Y Chromosome Consortium
The Y Chromosome Consortium (YCC) was a collection of scientists who worked toward the understanding of human Y chromosomal phylogenetics and evolution. The consortium had the following objectives: web resources that communicate information relati ...
(YCC), for the clades defined by mutation M215 and M35 respectively, which can also be referred to as E-M215 and E-M35.[ The nomenclature ''E3b'' (E-M215) and ''E3b1'' (E-M35) respectively were the YCC defined names used to designate the same ]haplogroup
A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid from the el, ἁπλοῦς, ''haploûs'', "onefold, simple" and en, group) is a group of similar haplotypes that share ...
s in older literature with E-M35 branching as a separate subclade
In genetics, a subclade is a subgroup of a haplogroup.
Naming convention
Although human mitochondrial DNA (mtDNA) and Y chromosome DNA (Y-DNA) haplogroups and subclades are named in a similar manner, their names belong to completely separate sy ...
of E-M215 in 2004.[ Prior to 2002 these haplogroups were not designated in a consistent way, and nor was their relationship to other related ]clades
A clade (), also known as a monophyletic group or natural group, is a group of organisms that are monophyletic – that is, composed of a common ancestor and all its lineal descendants – on a phylogenetic tree. Rather than the English term, t ...
within haplogroup E and haplogroup DE
Haplogroup DE is a human Y-chromosome DNA haplogroup. It is defined by the single nucleotide polymorphism (SNP) mutations, or UEPs, M1(YAP), M145(P205), M203, P144, P153, P165, P167, P183. DE is unique because it is distributed in several geogr ...
. But in non-standard or older terminologies, E-M215 is for example approximately the same as "haplotype V", still used in publications such as .[
]
See also
Genetics
Y-DNA E subclades
Y-DNA backbone tree
Notes
References
Additional sources
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*. Also at http://www.ucl.ac.uk/tcga/tcgapdf/Behar-AJHG-03.pdf and https://web.archive.org/web/20090304100321/http://www.familytreedna.com/pdf/400971.pdf
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Supplementary Data
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comment on the Spitoon blog
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*. Published online April 2, 2008. See als
Supplementary Material.
*
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Errata
*
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* Pontikos D. "Phylogeographic refinement of haplogroup E" http://dienekes.blogspot.ru/2015/07/phylogeographic-refinement-of.html
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*. Published online 9 March 2005
*
*.
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* Trombetta B. "Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent" http://gbe.oxfordjournals.org/content/7/7/1940.long
*
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Sources for conversion tables
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External links
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
{{DEFAULTSORT:Haplogroup E1b1b (Y-Dna)
Human Y-DNA haplogroups, E1b1b
Mediterranean