|Haplogroup E-V38/ E3a/ E1b1a|
|Possible time of origin||42,300 years BP|
|Possible place of origin||Horn of Africa |
|Defining mutations||L222.1, V38, V100|
Haplogroup E-V38 is a human Y-chromosome DNA haplogroup. It is primarily distributed in Africa. E-V38 has two basal branches, E-M329 (formerly E1b1c or E1b1*) and E-M2 (formerly E1b1a). The E-M329 subclade is today almost exclusively found in Ethiopia. E-M2 is the predominant subclade in Western Africa, Central Africa, Southern Africa and the region of African Great Lakes, and occurs at moderate frequencies in North Africa and Middle East.
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. The downstreams SNP E-M180 possibly originated on the moist south-central Saharan savannah/grassland of northern Africa 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 haplogroups 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, A1b, A2, A3, and B-M60 that are common in certain populations, such as the Mbuti and Khoisan.
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.
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 is defined by the SNP mutation M329.[Note 1] The majority of the cases observed have been found in East Africa. It has been found in ancient DNA isolated from a 4,500 year old Ethiopian fossil called Mota. This haplogroup is frequent in Southwestern Ethiopia, especially among Omotic-speaking populations. Semino et al. (2004) found 2 Ethiopian Oromo in a study of >2400 individuals, including 78 Oromo. Cadenas et al. (2007) found 1 case in Qatar, out of 72 people tested there in that study.
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.
|YCC 2002/2008 (Shorthand)||(?)||(?)||(?)||(?)||(?)||(?)||(?)||YCC 2002 (Longhand)||YCC 2005 (Longhand)||YCC 2008 (Longhand)||YCC 2010r (Longhand)||ISOGG 2006||ISOGG 2007||ISOGG 2008||ISOGG 2009||ISOGG 2010||ISOGG 2011||ISOGG 2012|
The following research teams per their publications were represented in the creation of the YCC tree.
|Phylogenetic tree of human Y-chromosome DNA haplogroups [? 1][? 2]|
|A00||A0-T [? 3]|
|A0||A1 [? 4]|
|I||J||LT [? 5]||K2 [? 6]|
|L||T||K2a [? 7]||K2b [? 8]||K2c||K2d||K2e [? 9]|
|K-M2313 [? 10]||K2b1 [? 11]||P [? 12]|
|NO||S [? 13]||M [? 14]||P1||P2|