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Haplogroup E-V38 is a
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 ...
. It is primarily distributed in Sub Saharan Africa. E-V38 has two basal branches, E-M329 (formerly E1b1c or E1b1*) and E-M2 (formerly E3a & E1b1a). The E-M329 subclade is today almost exclusively found in
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 Er ...
. E-M2 is the predominant subclade in
Western Africa West Africa or Western Africa is the westernmost region of Africa. The United Nations defines Western Africa as the 16 countries of Benin, Burkina Faso, Cape Verde, The Gambia, Ghana, Guinea, Guinea-Bissau, Ivory Coast, Liberia, Mali, Maurita ...
,
Central Africa Central Africa is a subregion of the African continent comprising various countries according to different definitions. Angola, Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, the Republic of the Cong ...
,
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 ...
and the region of
African Great Lakes The African Great Lakes ( sw, Maziwa Makuu; rw, Ibiyaga bigari) are a series of lakes constituting the part of the Rift Valley lakes in and around the East African Rift. They include Lake Victoria, the second-largest fresh water lake in the ...
, and occurs at only moderate frequencies in some parts of
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 t ...
,
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 Anat ...
and
Southern Europe Southern Europe is the southern region of Europe. It is also known as Mediterranean Europe, as its geography is essentially marked by the Mediterranean Sea. Definitions of Southern Europe include some or all of these countries and regions: Alba ...
.


Origins

The discovery of two SNPs (V38 and V100) by Trombetta et al. (2011) significantly redefined the E-V38 phylogenetic tree. This led the authors to suggest that E-V38 may have originated in East Africa. V38 joins the West African-affiliated E-M2 and the northern East African-affiliated E-M329 with an earlier common ancestor who, like E-P2, may have also originated in
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 historica ...
. The downstreams SNP E-M180 may have originated on the moist south-central
Sahara , photo = Sahara real color.jpg , photo_caption = The Sahara taken by Apollo 17 astronauts, 1972 , map = , map_image = , location = , country = , country1 = , ...
n savannah/grassland of
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 t ...
between 14,000-10,000 years BP. According to Wood et al. (2005) and Rosa et al. (2007), such population movements changed the pre-existing population Y chromosomal diversity in Central, Southern and southern East Africa, replacing the previous
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 ...
frequencies in these areas with the now dominant E1b1a1 lineages. Traces of earlier inhabitants, however, can be observed today in these regions via the presence of the Y DNA haplogroups
A1a State Road A1A (SR A1A) is a major north–south Florida State Road that runs along the Atlantic Ocean, from Key West at the southern tip of Florida, to Fernandina Beach, just south of Georgia on Amelia Island. It is the main road through ...
, A1b, A2, A3, and B-M60 that are common in certain populations, such as the
Mbuti The Mbuti people, or Bambuti, are one of several indigenous pygmy groups in the Congo region of Africa. Their languages are Central Sudanic languages and Bantu languages. Subgroups Bambuti are pygmy hunter-gatherers, and are one of the oldest ...
and
Khoisan Khoisan , or (), according to the contemporary Khoekhoegowab orthography, is a catch-all term for those indigenous peoples of Southern Africa who do not speak one of the Bantu languages, combining the (formerly "Khoikhoi") and the or ( i ...
.


Distribution

This haplogroup's frequency and diversity are highest in the West Africa region. Within Africa, E-V38 displays a west-to-east as well as a south-to-north clinal distribution. In other words, the frequency of the haplogroup decreases as one moves from western and southern Africa toward the eastern and northern parts of the continent.


Subclades


E1b1a1

E1b1a1 is defined by markers DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, and V95. E-M2 is a diverse haplogroup with many branches.


E1b1a2

E1b1a2 is defined by the SNP mutation M329.It was formerly known as E1b1c. The majority of the cases observed have been found in East Africa. It has been found in
ancient DNA Ancient DNA (aDNA) is DNA isolated from ancient specimens. Due to degradation processes (including cross-linking, deamination and fragmentation) ancient DNA is more degraded in comparison with contemporary genetic material. Even under the be ...
isolated from a 4,500 year old Ethiopian fossil called Mota. This haplogroup is frequent in Southwestern Ethiopia, especially among
Omotic The Omotic languages are a group of languages spoken in southwestern Ethiopia, in the Omo River region. The Ge'ez script is used to write some of the Omotic languages, the Latin script for some others. They are fairly agglutinative and have ...
-speaking populations.Plaster et al. Y-DNA E subclades
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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.


Tree

This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) 2008 Tree, the ISOGG Y-DNA Haplogroup E Tree, and subsequent published research. *E1b1a (L222.1, V38, V100) **E1b1a1 (DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, V95, Z1101, Z1107, Z1116, Z1120, Z1122, Z1123, Z1124, Z1125, Z1127, Z1130, Z1133) **E1b1a2 (M329)


See also


Genetics


Y-DNA E subclades


Notes


References


Sources for conversion tables

* * * * * * * *


External links


Haplogroup E1b1a FTDNA ProjectDistribution of E1b1a/E3a in Africa
from ''
National Geographic ''National Geographic'' (formerly the ''National Geographic Magazine'', sometimes branded as NAT GEO) is a popular American monthly magazine published by National Geographic Partners. Known for its photojournalism, it is one of the most widely ...
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