Haplogroup E Pedigrees

Y-DNA haplogroup E would appear to have arisen in Northeast Africa based on the concentration and variety of E subclades in that area today. But the fact that Haplogroup E is closely linked with Haplogroup D, which is not found in Africa, leaves open the possibility that E first arose in the Near or Middle East and was subsequently carried into Africa by a back migration.E1b1 is by far the lineage of greatest geographical distribution. It has two important sub-lineages, E1b1a and E1b1b. E1b1a is an African lineage that probably expanded from northern African to sub-Saharan and equatorial Africa with the Bantu agricultural expansion. E1b1a is the most common lineage among African Americans. E1b1b1 probably evolved either in Northeast Africa or the Near East and then expanded to the west–both north and south of the Mediterranean Sea. E1b1b1 clusters are seen today in Western Europe, Southeast Europe, the Near East, Northeast Africa and Northwest Africa. The Cruciani articles (references and links below) are indispensable resources for understanding the structure of this complicated haplogroup, but note that the Cruciani haplogroup labels are now superseded because of the recently discovered new SNPS that lie closer to the root of the E branch of the Y-haplogroup Tree.

Members of Haplogroup E have not submitted pedigrees at this time, and the genetic distance between members of Haplogroup E are of a degree that does not offer a sufficient probability that any within the current members share a common ancestor with any other member of the Haplogroup within the bounds of recorded history. For easy reference, we insert here the Haplogroup SNP Tree you will find useful in understanding your SNPs recorded in the chart below. The more extensive the analysis of your test sample, the more definitive are the number of detailed SNPs identified. Knowing the SNPs assists in comparing your results with others in Haplogroup E. Following the Haplogroup E Chart and its supporting information you will find the Haplogroup E Pedigrees and interpretation of the testing results for each Haplogroup E member.

Y-DNA Haplogroup E and its Subclades – 2012

Version History Last revision date for this specific page: 26 April 2012

Because of continuing research, the structure of the Y-DNA Haplogroup Tree changes and ISOGG does its best to keep the tree updated with the latest developments in the field. The viewer may observe other versions of the tree on the Web. Email Alice Fairhurst if the differences need clarification or if you find any broken links on this page.

 

LINKS: Main Page Y-DNA Tree Trunk SNP Index Papers/Presentations Cited Glossary Listing Criteria
CLADE/SUBCLADE SYMBOLS: Added Redefined
SNP SYMBOLS: Not on 2011 tree Confirmed within subclade Provisional Private Investigation

E L339, L504, L507, L511, L537, L614, L856, M40/SRY4064/SRY8299, M96, P29, P150, P152,
P154, P155, P156, P162, P168, P169/Page54, P170, P171, P172, P173, P174, P175, P176
E*
E1 P147
• • E1*
• • E1a L633, M33, M132
• • • E1a*
• • • E1a1 M44
• • • E1a2 P110
• • • E1a3 L94
• • • E1a4 L133/Page74
• • ; E1b P177
• • • E1b*
• • • E1b1 DYS391p, P2/PN2, P179, P180, P181
• • • • E1b1*
• • • • E1b1a L222.1, V38, V100
• • • • • E1b1a*
• • • • • E1b1a1 DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, V95, Z1101, Z1107, Z1116, Z1120, Z1122, Z1123, Z1124, Z1125, Z1127, Z1130, Z1133, Z1135
• • • • • • E1b1a1*
• • • • • • E1b1a1a L576
• • • • • • • E1b1a1a*
• • • • • • • E1b1a1a1 L86.1, M180/P88, P182, Page66, Z1111, Z1132
• • • • • • • • E1b1a1a1*
• • • • • • • • E1b1a1a1a M58, Page27
• • • • • • • • E1b1a1a1b M116.2
• • • • • • • • E1b1a1a1c M149
• • • • • • • • E1b1a1a1d M155
• • • • • • • • E1b1a1a1e M10, M66, M156, M195
• • • • • • • • E1b1a1a1f L485
• • • • • • • • • E1b1a1a1f*
• • • • • • • • • E1b1a1a1f1 L514
• • • • • • • • • • E1b1a1a1f1*
• • • • • • • • • • E1b1a1a1f1a M191/P86, U186, P253/U247, Z1712.1
• • • • • • • • • • • E1b1a1a1f1a*
• • • • • • • • • • • E1b1a1a1f1a1 P252/U174
• • • • • • • • • • • • E1b1a1a1f1a1*
• • • • • • • • • • • • E1b1a1a1f1a1a P9.2
• • • • • • • • • • • • E1b1a1a1f1a1b P115
• • • • • • • • • • • • E1b1a1a1f1a1c P116
• • • • • • • • • • • • • E1b1a1a1f1a1c*
• • • • • • • • • • • • • E1b1a1a1f1a1c1 P113
• • • • • • • • • • E1b1a1a1f1b L515, L516, L517, M263.2
• • • • • • • • • • • E1b1a1a1f1b*
• • • • • • • • • • • E1b1a1a1f1b1 Z1893
• • • • • • • • E1b1a1a1g U175
• • • • • • • • • E1b1a1a1g*
• • • • • • • • • E1b1a1a1g1 P277, P278.1, U209
• • • • • • • • • • E1b1a1a1g1*
• • • • • • • • • • E1b1a1a1g1a U290
• • • • • • • • • • • E1b1a1a1g1a*
• • • • • • • • • • • E1b1a1a1g1a1 U181
• • • • • • • • • • • • E1b1a1a1g1a1*
• • • • • • • • • • • • E1b1a1a1g1a1a L97
• • • • • • • • • • E1b1a1a1g1b P59
• • • • • • • • • • E1b1a1a1g1c M154
• • • • • • • • • • E1b1a1a1g1d V39
• • • • • • • • E1b1a1a1h P268, P269
• • • • • E1b1a2 M329
• • • • E1b1b M215/Page40
• • • • • E1b1b*
• • • • • E1b1b1 L336, M35.1, M243
• • • • • • E1b1b1*
• • • • • • E1b1b1a V68
• • • • • • • E1b1b1a*
• • • • • • • E1b1b1a1 L18, M78
• • • • • • • • E1b1b1a1*
• • • • • • • • E1b1b1a1a V12
• • • • • • • • • E1b1b1a1a*
• • • • • • • • • E1b1b1a1a1 M224
• • • • • • • • • E1b1b1a1a2 V32
• • • • • • • • E1b1b1a1b L142.1, L542, V13, V36,
• • • • • • • • • E1b1b1a1b*
• • • • • • • • • E1b1b1a1b1 V27
• • • • • • • • • E1b1b1a1b2 P65_1, P65_2, P65_3
• • • • • • • • • E1b1b1a1b3 L17
• • • • • • • • • E1b1b1a1b4 DYS643-null/L143
• • • • • • • • • E1b1b1a1b5 M35.2
• • • • • • • • • E1b1b1a1b6 L241
• • • • • • • • • E1b1b1a1b7 L250, L251, L252
• • • • • • • • • E1b1b1a1b8 L540
• • • • • • • • E1b1b1a1c V22
• • • • • • • • • E1b1b1a1c*
• • • • • • • • • E1b1b1a1c1 M148
• • • • • • • • • E1b1b1a1c2 V19
• • • • • • • • E1b1b1a1d V65
• • • • • • • • E1b1b1a1e M521
• • • • • • E1b1b1b Z827
• • • • • • • E1b1b1b*
• • • • • • • E1b1b1b1 L19/V257, L335, M310
• • • • • • • • E1b1b1b1*
• • • • • • • • E1b1b1b1a M81
• • • • • • • • • E1b1b1b1a*
• • • • • • • • • E1b1b1b1a1 M107
• • • • • • • • • E1b1b1b1a2 M183/Page33
• • • • • • • • • • E1b1b1b1a2*
• • • • • • • • • • E1b1b1b1a2a M165
• • • • • • • E1b1b1b2 Z830
• • • • • • • • E1b1b1b2*
• • • • • • • • E1b1b1b2a M123
• • • • • • • • • E1b1b1b2a*
• • • • • • • • • E1b1b1b2a1 M34
• • • • • • • • • • E1b1b1b2a1*
• • • • • • • • • • E1b1b1b2a1a M84, L29/Page47
• • • • • • • • • • • E1b1b1b2a1a*
• • • • • • • • • • • E1b1b1b2a1a1 M136
• • • • • • • • • • E1b1b1b2a1b M290
• • • • • • • • • • E1b1b1b2a1c V23 (V23 position relative to M84 and M290 is uncertain)
• • • • • • • • • • E1b1b1b2a1d L791, L792
• • • • • • • • E1b1b1b2b M293
• • • • • • • • • E1b1b1b2b*
• • • • • • • • • E1b1b1b2b1 P72
• • • • • • • • E1b1b1b2c V42
• • • • • • E1b1b1c V6
• • • • • • E1b1b1d V92
• • • • • E1b1b2 M281, V16
• • • E1b2 P75
E2 M75, P68
• • E2*
• • E2a M41/P210
• • E2b M54, M90, M98
• • • E2b*
• • • E2b1 M85
• • • • E2b1*
• • • • E2b1a M200
• • • • • E2b1a*
• • • • • E2b1a1 P45
• • • • • E2b1a2 P258

Private SNPs – After having been investigated, these SNPs have not met the population distribution criteria for placement on the tree. Either too few confirmed positive testers have been found OR multiple confirmed testers were confined to either a single surname or to a small group of related males.

  • L99 is located under E-V13. Listed 24 Feb 2011.
  • L351 is located under E-M183. Listed 24 Feb 2011.
  • L372 is located under E-U174. Listed 11 Sep 2011.

SNPs under Investigation – Additional testing is needed to confirm adequate positive samples and/or correct placement on the tree.

  • L609 and L611 are located downstream from E-U209. L609 and L611 were found in a single individual and may be phylogenetically equivalent. Listed 22 Jun 2011.
  • L631, L632 and L634 are located at approximately E-M44. L631, L632, and L634 were found in a single individual and may be phylogenetically equivalent. Listed 20 July 2011.
  • L635, L636, L637 and L638 are located at approximately E-M33. L635, L636, L637, and L638 were found in a single individual and may be phylogenetically equivalent. Listed 20 July 2011.
  • L649, L650, and L651 are located downstream from E-U290. L649, L650, and L651 were found in a single individual and may be phylogenetically equivalent. Listed 4 Aug 2011.
  • L674, L675 and L677 are located at approximately E-V22. L674, L675, and L677 were found in a single individual and may be phylogenetically equivalent. Listed 23 Aug 2011.
  • L788, L795 and L797/Z1146 are located at approximately E-M84. L788, L795, and L797/Z1146 were found in several Walk through the Y samples and may be phylogenetically equivalent to E-M84 or are a downstream subclade of E-M84. Listed 7 Oct 2011.
  • L790 is located downstream from E-M84. L790 was found in a single individual. Listed 7 Oct 2011.
  • L793 is located downstream from E-L791. L793 was found in a single individual. Listed 7 Oct 2011.
  • Z1894 is located under E-Z1893. Listed 23 Oct 2011.
  • L849, L850 and L852 are located downstream from E-M84. L849, L850 and L852 were found in a single individual and may be phylogenetically equivalent. Listed 1 Jan 2012.
  • L853 is located approximately at E-M84. L853 was found in a single individual. Listed 1 Jan 2012.
  • L904 is located at approximately at E-V42. L904 was found in a single individual and may be phylogenetically equivalent. Listed 1 Jan 2012.
  • L117/Page15 is located downstream of E-M215. Listed 7 Jan 2012.

NOTES:

  • Identical SNPs that were discovered separately are listed in alphabetical order, not necessarily in the order of discovery, and separated by “/”. Examples: M40/SRY4064/SRY8299, P2/PN2, DYS271/M2/SY81, M180/P88, P1/PN1, M191/P86, P253/U247, P252/U174 and M41/P210.
  • Per the Trombetta et al. (2011) paper on haplogroup E1b1, “mutations M154 and M281 have been repositioned with respect to the previously published phylogeny; however, the possibility that M154 and M281 are recurrent mutations cannot be excluded.” Additionally the previously published phylogeny included mutation L19, which was included in this paper using the designation V257. L19/V257 was also repositioned and as with the other two mutations the possibility that it is a recurrent mutation cannot be excluded.
  • Due to a lack of positive control samples for E-V27 and E-P65, the positions of V27 and P65 are uncertain with respect to the positions of L17, L143, M35.2, L242, L250, L251, L252, and L540.
  • The position of private SNP M35.2 is uncertain with respect to the positions of L241, L250, L251, L252, and L540.
  • The location of L485 is uncertain with M116.2, M149, M155, M10, M66, M156, M195, P268, and P269.
  • SNPs P46 and P211 are not private but their positions are uncertain. They are located approximately between E-M2 and E-M180.


A caution on clade labels: Because knowledge of this branch of the Y-chromosome tree has advanced so quickly in the last few years, different clade labels can be found in current use for the same SNP-determined branch of the tree. For example, it is still common to see E3b1 and E3b2 used to distinguish between the M78 and M81 branches of the tree though greater resolution is now possible.

References:

Adams et al, The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula, American Journal of Human Genetics, 83(6): 725-36, 2008.
Alonso et al, The Place of the Basques in the European Y-chromosome Diversity Landscape. (available by subscription) European Journal of Human Genetics, 13:1293-1302, 2005.
Battaglia et al, Y-chromosomal Evidence of the Cultural Diffusion of Agriculture in Southeast Europe European Journal of Human Genetics, 249. 2008.
Behar et al, Contrasting Patterns of Y Chromosome Variation in Ashkenazi Jewish and Host Non-Jewish European Populations. (pdf) Hum Genet 114:354-365, 2004.
Bortolini et al, Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas. American Journal of Human Genetics, 73:524–539, (2003).
Bosch et al, Paternal and Maternal Lineages in the Balkans Show a Homogeneous Landscape over Linguistis Barriers except for the Isolated Aromuns. Annals of Human Genetics, 70:459-87, (2006).
Capelli et al, Population Structure in the Mediterranean Basin: A Y Chromosome Perspective. (pdf) Annals of Human Genetics, 2005.
Cadenas et al, Y-chromosome Diversity Characterizes the Gulf of Oman. European Journal of Human Genetics, 16:374-386, 2008.
Cinnioglu et al, Excavating Y-chromosome Haplotype Strata in Anatolia. (pdf) Human Genetics. 114:127-148, 2004.
Cruciani et al, A Back Migration from Asia to Sub-Saharan Africa is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes. American Journal of Human Genetics, 70:1197-1214, 2002.
Cruciani et al, Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out of Africa. (pdf) American Journal of Human Genetics, 74:1014-1022, 2004.
Cruciani et al, Molecular Dissection of the Y Chromosome Haplogroup E-M78 (E3b1a): A Posteriori Evaluation of a Microsatellite-Networked-Based Approach Through Six New Biallelic Markers. (pdf) Human Mutation: Mutation in Brief #916, 2006.
Cruciani et al, Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12. (pdf) Molecular Biology and Evolution 24(6):1300-1311, 2007.
Cruciani et al, Recurrent Mutation in SNPs within Y chromosome E3b (E-M215) Haplogroup: A Rebuttal. (abstract) American Journal of Human Biolology. Sep-Oct;20(5):614-6, 2008.
Deng et al, Evolution and Migration History of the Chinese Population Inferred from the Chinese Y-chromosome Evidence. (pdf) Journal of Human Genetics, 49:339-348, 2004.
El Sibai et al, Geographical Structure of the Y-Chromosomal Genetic Landscape of the Levant: A Coastal Inland Contrast, Annals of Human Genetics, 73:568-81, 2009. (abstract)
Firasat et al, Y-chromosomal Evidence for a Limited Greek Contribution to the Pathan Population of Pakistan, European Journal Human Genetics, 15:121+126, 2007.
Flores et al, Reduced Genetic Structure of the Iberian Peninsula Revealed by Y-chromosome Analysis: Implications for Population Demography. (pdf) European Journal of Human Genetics, 12:855-863, 2004.
Gomes et al, Digging Deeper into East African Human Y Chromosone Lineages, Human Genetics, 127(5):603-13, 2010.
Henn et al, Y-chromosomal Evidence of a Pastoralist Migration through Tanzania to Southern Africa. PNAS, vol. 105 no. 31 10693-10698, 2008.
Karafet et al, New Binary Polymorphisms Reshape and Increase Resolution of the Human Y-Chromosomal Haplogroup Tree. Abstract. Genome Research, published online April 2, 2008. Supplementary Material.
King et al, The Coming of the Greeks to Provence and Corsica: Y-Chromosome Models of Archaic Greek Colonization of the Western Mediterranean, BMC Evolutionary Biology, 11: 69, 2011.
King et al, Differential Y-chromosome Anatolian Influences on the Greek and Cretan Neolithic. (abstract) Annals of Human Genetics. 72:205–214. 2008.
Nasidze et al, MtDNA and Y-chromosome Variation in Kurdish Groups. (abstract) Annals of Human Genetics, 69:401-412, 2005.
Regueiro et al, Iran: Tricontinental Nexus for Y-Chromosome Driven Migration. (abstract) Human Heredity, Vol. 61, No 3, 132-143, 2006.
Repping et al, High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nature Genetics 38, 463 – 467, 2006.
Rozen et al, Remarkably Little Variation in Proteins Encoded by the Y Chromosome’s Single-Copy Genes, Implying Effective Purifying Selection. American Journal of Human Genetics. 2009 December 11; 85(6): 923-928.
Semino et al, Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny. (pdf) American Journal of Human Genetics, 70:265-268, 2002.
Semino et al, Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area. (pdf) American Journal of Human Genetics, 74:1023-1034, 2004.
Sengupta et al, Polarity and Temporality of High Resolution Y-chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists. (pdf) American Journal of Human Genetics, 78:202-221, 2006.
Shen et al, Reconstruction of Patrilineages and Matrilineages of Samaritans and other Israeli Populations from Y-Chromosome and Mitochondrial DNA Sequence Variation. (pdf) Human Mutation, 24:248-260, 2004.
Sims et al, Sub-Populations Within the Major European and African Derived Haplogroups R1b3 and E3a Are Differentiated by Previously Phylogenetically Undefined Y-SNPs. Human Mutation: Mutation in Brief #940, Online, 2007.
Trombetta et al, A New Topology of the Human Y Chromosome Haplogroup E1b1 (E-P2) Revealed through the Use of Newly Characterized Binary Polymorphisms. PLoS ONE 6(1), Online, 2011.
Valone et al, Y SNP Typing of African-American and Caucasian Samples Using Allele-Specific Hybridization and Primer Extension. (pdf) Journal of Forensic Science, 49:4, July 2004.
Zhao et al, Presence of Three Different Paternal Lineages among North Indians: A Study of 560 Y Chromosomes. (abstract) Annals of Human Biology, 36(1):46-59, 2009.

Additional Resources:

ISOGG Wiki – What you need to know about Genetic Genealogy.
E1a – (M33, M132) Project.
Haplogroup E1b1a (E1b1a1-M2), Roberta Estes.
The African DNA Project (E1b1a), Dr. Ana Oquendo Pabon.
Arabian E Y-DNA Project (E1b1).
E-M35 Project (formerly the E3b Project) (E1b1b1), Bill Harvey, Denis Savard, Victor Villarreal.
E-M35 Project – New SNP Tracker.
The E-M35 Phylogeny Project, Victor Villareal.
Double Helix Forums, E-M35 community.

Corrections/Additions made since 1 January 2012:

  • Added L849, L850, L852, L853, L904, Z1146 to Investigation on 1 January 2012.
  • Added Z827, Z830, Z1101, Z1107, Z1116, Z1120, Z1122, Z1123, Z1124, Z1125, Z1127, Z1130, Z1133, Z1135, Z1712.1 to the tree on 1 January 2012.
  • Moved L791, L792 from Investigation and L117/Page15 from Private to tree on 5 January 2012.
  • Removed L117/Page15 from tree and placed in Investigation on 7 January 2012.
  • Added Fitasat et al (2007) on 8 April 2012.
  • Added Bosch et al (2006), Zhau et al (2009) on 9 April 2012.
  • Added Gomes et al (2010) on 26 April 2012.

Presented below are the SNPs for each Haplogroup E member, identified by Kit Number. Position your mouse on the image and right hand click to view the entire chart.

haplogroup&pedigrees_E082512

Revised August 25, 2012.