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E-M215 or E1b1b, formerly known as E3b, is a major
human Y-chromosome DNA haplogroup In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-Genetic recombination, recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share ...
. E-M215 has two basal branches, E-M35 and E-M281. E-M35 is primarily distributed in
North Africa North Africa (sometimes Northern Africa) is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region. However, it is sometimes defined as stretching from the Atlantic shores of t ...
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 occurs at moderate frequencies in the
Middle East The Middle East (term originally coined in English language) is a geopolitical region encompassing the Arabian Peninsula, the Levant, Turkey, Egypt, Iran, and Iraq. The term came into widespread usage by the United Kingdom and western Eur ...
,
Europe Europe is a continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere. It is bordered by the Arctic Ocean to the north, the Atlantic Ocean to the west, the Mediterranean Sea to the south, and Asia to the east ...
, and
Southern Africa Southern Africa is the southernmost region of Africa. No definition is agreed upon, but some groupings include the United Nations geoscheme for Africa, United Nations geoscheme, the intergovernmental Southern African Development Community, and ...
. E-M281 occurs at a low frequency in
Ethiopia Ethiopia, officially the Federal Democratic Republic of Ethiopia, is a landlocked country located in the Horn of Africa region of East Africa. It shares borders with Eritrea to the north, Djibouti to the northeast, Somalia to the east, Ken ...
.


Origins

The origins of E-M215 were dated by Cruciani in 2007 to about 22,400 years ago in
East Africa East Africa, also known as Eastern Africa or the East of Africa, is a region at the eastern edge of the Africa, African continent, distinguished by its unique geographical, historical, and cultural landscape. Defined in varying scopes, the regi ...
. For E-M215 reduced their estimate to 22,400 from 25,600 in , re-calibrating the same data.


Ancient DNA

According to Lazaridis et al. (2016),
Natufian The Natufian culture ( ) is an archaeological culture of the late Epipalaeolithic Near East in West Asia from 15–11,500 Before Present. The culture was unusual in that it supported a sedentism, sedentary or semi-sedentary population even befor ...
skeletal remains from the ancient
Levant The Levant ( ) is the subregion that borders the Eastern Mediterranean, Eastern Mediterranean sea to the west, and forms the core of West Asia and the political term, Middle East, ''Middle East''. In its narrowest sense, which is in use toda ...
predominantly carried the Y-DNA haplogroup E1b1b. Of the five Natufian specimens analyzed 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 Type site, typed by British archaeologist Kathleen Kenyon ...
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 ancestral components separate from that which would arrive later in North Africa. Additionally, haplogroup E1b1b1 has been found in an
ancient Egypt Ancient Egypt () was a cradle of civilization concentrated along the lower reaches of the Nile River in Northeast Africa. It emerged from prehistoric Egypt around 3150BC (according to conventional Egyptian chronology), when Upper and Lower E ...
ian mummy excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which dates from a period between the late
New Kingdom New or NEW may refer to: Music * New, singer of K-pop group The Boyz * ''New'' (album), by Paul McCartney, 2013 ** "New" (Paul McCartney song), 2013 * ''New'' (EP), by Regurgitator, 1995 * "New" (Daya song), 2017 * "New" (No Doubt song), 1 ...
and the
Roman era In modern historiography, ancient Rome is the Roman people, Roman civilisation from the founding of Rome, founding of the Italian city of Rome in the 8th century BC to the Fall of the Western Roman Empire, collapse of the Western Roman Em ...
. Fossils at the Iberomaurusian site of Ifri N'Amr Ou Moussa in
Morocco Morocco, officially the Kingdom of Morocco, is a country in the Maghreb region of North Africa. It has coastlines on the Mediterranean Sea to the north and the Atlantic Ocean to the west, and has land borders with Algeria to Algeria–Morocc ...
, 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 (sometimes Northern Africa) is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region. However, it is sometimes defined as stretching from the Atlantic shores of 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, an extinct language, spoken by the Guanches until the 16th or 17th century *''Conus guanche ''Conus guanche'' is a species of sea snail, a marine ga ...
fossils excavated in
Gran Canaria Gran Canaria (, ; ), also Grand Canary Island, is the third-largest and second-most-populous island of the Canary Islands, a Spain, Spanish archipelago off the Atlantic coast of Northwest Africa. the island had a population of that constitut ...
and
Tenerife Tenerife ( ; ; formerly spelled ''Teneriffe'') is the largest and most populous island of the Canary Islands, an Autonomous communities of Spain, autonomous community of Spain. With a land area of and a population of 965,575 inhabitants as of A ...
on the
Canary Islands The Canary Islands (; ) or Canaries are an archipelago in the Atlantic Ocean and the southernmost Autonomous communities of Spain, Autonomous Community of Spain. They are located in the northwest of Africa, with the closest point to the cont ...
, 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 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. It contained at least 34 Iberomaurusian adolescent and adult human skeletons, as well as young ...
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 (sometimes Northern Africa) is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region. However, it is sometimes defined as stretching from the Atlantic shores of t ...
, specifically in the countries
Somalia Somalia, officially the Federal Republic of Somalia, is the easternmost country in continental Africa. The country is located in the Horn of Africa and is bordered by Ethiopia to the west, Djibouti to the northwest, Kenya to the southwest, th ...
and
Morocco Morocco, officially the Kingdom of Morocco, is a country in the Maghreb region of North Africa. It has coastlines on the Mediterranean Sea to the north and the Atlantic Ocean to the west, and has land borders with Algeria to Algeria–Morocc ...
, whence it has in recent millennia expanded as far south as
South Africa South Africa, officially the Republic of South Africa (RSA), is the Southern Africa, southernmost country in Africa. Its Provinces of South Africa, nine provinces are bounded to the south by of coastline that stretches along the Atlantic O ...
, and northwards into
Western Asia West Asia (also called Western Asia or Southwest Asia) is the westernmost region of Asia. As defined by most academics, UN bodies and other institutions, the subregion consists of Anatolia, the Arabian Peninsula, Iran, Mesopotamia, the Armenian ...
and
Europe Europe is a continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere. It is bordered by the Arctic Ocean to the north, the Atlantic Ocean to the west, the Mediterranean Sea to the south, and Asia to the east ...
(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 east by the Levant in West Asia, on the north by Anatolia in West Asia and Southern ...
and the
Balkans The Balkans ( , ), corresponding partially with 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 throug ...
). E-M281 has been found in
Ethiopia Ethiopia, officially the Federal Democratic Republic of Ethiopia, is a landlocked country located in the Horn of Africa region of East Africa. It shares borders with Eritrea to the north, Djibouti to the northeast, Somalia to the east, Ken ...
. 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, Di Cristofaro et al. (2013) found one individual in Khorasan, North-East Iran 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. Amongst populations with an Afro-Asiatic speaking history, a significant proportion of
Jewish Jews (, , ), or the Jewish people, are an ethnoreligious group and nation, originating from the Israelites of History of ancient Israel and Judah, ancient Israel and Judah. They also traditionally adhere to Judaism. Jewish ethnicity, rel ...
male lineages are E-M35. Haplogroup E-M35, which accounts for approximately 18% to 20% of
Ashkenazi Ashkenazi Jews ( ; also known as Ashkenazic Jews or Ashkenazim) form a distinct subgroup of the Jewish diaspora, that Ethnogenesis, emerged in the Holy Roman Empire around the end of the first millennium Common era, CE. They traditionally spe ...
and 8.6% to 30% of
Sephardi Sephardic Jews, also known as Sephardi Jews or Sephardim, and rarely as Iberian Peninsular Jews, are a Jewish diaspora population associated with the historic Jewish communities of the Iberian Peninsula (Spain and Portugal) and their descendant ...
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."


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


E-M35

Haplogroup E-M35 is a subclade of E-M215.


E-M281

Haplogroup E-M281 is a subclade of E-M215.


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 objective: web resources that communicate information relatin ...
(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 , ''haploûs'', "onefold, simple" and ) is a group of similar haplotypes that share a common ancestor with a sing ...
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 syst ...
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 In biology, a clade (), also known as a monophyletic group or natural group, is a group of organisms that is composed of a common ancestor and all of its descendants. Clades are the fundamental unit of cladistics, a modern approach to taxonomy ...
within haplogroup E and haplogroup DE. But in non-standard or older terminologies, E-M215 is for example approximately the same as "haplotype V", still used in publications such as .


Phylogenetic trees

Cladogram with the main subclades: The following
phylogenetic tree A phylogenetic tree or phylogeny is a graphical representation which shows the evolutionary history between a set of species or taxa during a specific time.Felsenstein J. (2004). ''Inferring Phylogenies'' Sinauer Associates: Sunderland, MA. In ...
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.


See also


Genetics


Y-DNA E subclades


Y-DNA backbone tree


Notes


References


Bibliography

* * * * * * . 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 * * * * * * * * also a

* * * * * * * * Also se
Supplementary Data
* * * * * * * * * * * * * * . Se
comment on the Spitoon blog
an
public release
* * * . Published online April 2, 2008. See als
Supplementary Material.
* * * * * * * * . (Also se
Errata
* * * * * * * * * . * Pontikos D. "Phylogeographic refinement of haplogroup E" http://dienekes.blogspot.ru/2015/07/phylogeographic-refinement-of.html * * * * * * . Published online 9 March 2005 * * . * * * * * * * * * * * * * * * * . * * * * * * *


Sources for conversion tables

* * * * * * * {{DEFAULTSORT:Haplogroup E1b1b (Y-Dna) Human Y-DNA haplogroups, E1b1b