Greek Y-chromosomes
Last Update: 4 January, 2009
The most comprehensive study of Y-chromosomal diversity in Europe thus far is Rosser et al., [1]. The human Y chromosome is passed on from father to son. One can thus study one half of a population's ancestry (along the paternal line) by studying the Y-chromosome. Greek Y-chromosomes belong to haplogroups HG1, HG2, HG3, HG9, HG21 and HG26. None of the 35 Greek Y chromosomes are of non-Caucasoid origin. A second Y-chromosome study including Greeks have also shown similar results. Helgason et al., [2] reports one HG16 sequence of North Eurasian provenance in a sample of 42 Greeks (at least 97.6% Caucasoid). To put this in perspective, eight HG16 chromosomes occur in 110 Swedes (at least 92.7% Caucasoid) and three HG16 sequences in 112 Norwegians (at least 97.3% Caucasoid) were also found. HG16 is shared by many populations ranging from Europe to Mongolia. Its origin has been placed by [7] in the Eastern range of its current geographical distribution.
A third Y-chromosome study, by Malaspina et al., [3] which included a sample of 28 continental and 83 Cretan Greeks (total sample size of 111) found no evidence of the presence of non-Caucasoid Y chromosomes in Greeks.
A fourth Y-chromosome study, by Semino et al., [4] included 76 Greeks and 20 Macedonian Greeks. One Eu6 lineage, corresponding to HG10/HG36 [5] is probably of East Asian origin. One Eu17 lineage corresponds to HG 28 which is frequent in Central Asia and the Indian subcontinent [6]. In total, admixture of 2.1% is detected (if we label HG 28 as non-Caucasoid).
A fifth Y-chromosome study, by Weale et al., [8] included 132 Greek students from Athens. The same haplogroups found in [1] were detected in this study. No non-Caucasoid chromosomes were found.
The most recent and comprehensive study of Greek Y-chromosomes, by Di Giacomo et al., [9] included 154 individuals from continental Greece and 212 from Crete, Lesvos and Chios. In total, Greeks from thirteen separate locations were examined, thus giving the most complete picture of variation so far. A single haplogroup A chromosome was found (in Lesvos) which is usually found in Africa. The remainder belonged to haplogroups found in Caucasoid populations. The breakup (in percent) of the haplogroups observed) based on the set of markers typed is as follows.
P*(xR1a) | R1a | DE | G2 | I-M170 | J2(DYS413= 18) | J2*(xDYS413= 18) | J*(xJ2) | A | Y*(xA,DE,G2,I,J,P) |
12.8 | 9.8 | 20.2 | 6.6 | 14.8 | 20.2 | 4.9 | 2.7 | 0.3 | 7.7 |
Bosch et al. [14] studied Y chromosome variation in the Balkans, including a sample of 41 Greeks. Greeks belonged to the major Caucasoid haplogroups. The identity of the K*(xP) chromosomes is not clear, but they could belong to the minor Caucasoid haplogroups K2 and L which have been previously observed in Greeks, or to other K-related lineages.
E3b1 | E3b3 | G | I | J2 | K*(xP) | R1a1 | R1b |
17.1 | 2.4 | 4.9 | 19.5 | 19.5 | 2.4 | 22.0 | 12.2 |
E3b*(xE3b1,E3b3) | E3b1 | E3b3 | F*(xG,H1,H2,I,J,K) | G | H2 | I | J1 | J2 | K*(xK2,L,NO,P) | K2 | R1*(xR1a1) | R1a1 |
1.3 | 16.9 | 2.6 | 1.3 | 9.1 | 1.3 | 19.5 | 1.3 | 15.6 | 1.3 | 2.6 | 11.7 | 1 5.6 |
Future studies with larger samples and more detailed founder analyses will allow us to obtain a better pictures of Y-chromosome variation in Greece, Europe and the world at large. At present, it appears that modern Europeans share many of the haplogroups, while there is also geographic structure in the distribution. With the exception of the Northeast corner of Europe, all other European populations have very small traces of extra-Caucasoid genetic input(a).
References
- Rosser et al. (2000) European Y-Chromosome Diversity. Am J Hum Genet 67:1526-1543
- Helgason et al. (2000) Ancestry of Icelandic Y Chromosomes. Am J Hum Genet 67:697-717
- Malaspina et al. (2000) Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa. Ann Hum Genet 64:395-412
- Semino et al. (2000) The genetic legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective
- Zerjal et al. (2002) Y-Chromosomal Insights into Central Asia. Am J Hum Genet 71:466-482
- Qamar et al. (2002) Y-Chromosomal DNA Variation in Pakistan. Am J Hum Genet 70:1107-1124
- Zerjal et al. (1997) Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 60:11741183
- Weale et al. (2001) Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group. Hum Genet 109: 659-674
- Di Giacomo et al. (2003) Clinal Patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects. Mol Phyl Evol 28:387-395
- Semino et al. (2004) 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. Am J Hum Genet (to appear)
- Cruciani et al. (2004) Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa. Am J Hum Genet (to appear)
- Al-Zahery et al. (2003) Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations. Mol Phyl Evol 28:458-472
- Flores et al. (2005) Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan. J Hum Genet. (to appear)
- Bosch et al. (2006) Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns. Ann Hum Genet. (to appear)
- Firasat et al. (2006) Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan. Eur J Hum Genet. (to appear)
- Laisel Martinez et al. (2007) Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau, European Journal of Human Genetics
- King et al. (2008) Differential Y-chromosome Anatolian Influences on the Greek and Cretan Neolithic, Annals of Human Genetics 72,205–214
- Battaglia et al. (2009) Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe, European Journal of Human Genetics (in press)
Appendix
Flores et al. [13] have compiled haplogroup and sub-haplogroup data from three of the afore-mentioned studies which included Greek samples [4, 9, 10]. The total sample size of this meta-analysis is 442. An error has resulted in the false inclusion of 0.2% frequency of haplogroup B which was not reported in the original sources (A.M. González, personal communication). The table of haplogroup frequencies reported in [13] is given below: A | C | E3b3 | E3b1 | F*(xG,H,I,J,K) | G | I | J1 | J2 | K2 | L | R1*(xR1a1) | R1a1 |
0.2 | 1.3 | 2.0 | 18.6 | 3.4 | 5.9 | 13.6 | 2.5 | 24.5 | 1.1 | 1.1 | 15.4 | 10.2 |
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