Greek mtDNA

Greek mtDNA

by Dienekes Pontikos

 http://dienekes.50webs.com/arp/articles/greekmtdna/

In numerous recent studies, the mitochondrial DNA of Greeks was examined and was found to be predominantly Caucasoid with only infrequent presence of "erratic" sequences from non-Caucasoid sources. Mitochondrial DNA ("mtDNA") is inherited from one's mother and is thus a good way to establish the maternal ancestry of a population.
The most comprehensive European-wide study of mtDNA is [1] in which 125 Greeks were sampled among thousands of Europeans. The Greeks and the Albanians appear in the "Mediterranean-East" category of the study. Greeks tested belonged overwhelmingly to the Caucasoid-specific haplogroups ("Seven Daughters of Eve" popularized by Bryan Sykes' book).
The "erratic" sequences include a Sub-Saharan African (L1a) sequence, which was derived from the Albanian part of the sample [2]. The other two sequences non-attributed to a European founder are members of haplogroups prevalent in Asia, M and D. Thus, the total percentage of erratics in the Greek sample was 1.6%. The Greeks, like most Europeans are fairly pure in terms of their maternal ancestry.
It is sometimes argued that the Greeks absorbed large numbers of Negro slaves or immigrants. There is no evidence of such an event in Greek mtDNA. If it ever took place, it was so limited in scope that not a single sequence in a total of 125 could be found.
The number of non-European sequences in the rest of Europe is also small, while in the Near East it is about 5%, only slightly larger. One can easily verify that Sub-Saharan African admixture (L sequences) has been detected in Scandinavia (Sweden, Norway and Iceland - 0.6%), Southeastern Europe (Bulgaria/Romania - 0.5%), Central Mediterranean (Italy and Sardinia - 1.7%; mostly in Sardinia), the Mediterranean West (Spain and Portugal - 3.7%), North Central Europe (Poles, Czechs, Germans, Danes - 0.9%), North Western Europe (Britain, Ireland and France - 0.4%). In another recent study [3] on Norwegians, an L2 Sub-Saharan African sequence was found in the sample of 74 Norwegians (1.4% Sub-Saharan admixture). Finally [4] showed 0.5% to 1.2% introgression of Sub-Saharan African genes into the European American gene pool.
The main conclusion to be drawn from these studies, is that Caucasoids of European descent have negligible traces of non-Caucasoid maternal admixture. Sub-Saharan African traces of such ancestry are found at levels of about 1% in many populations.
A new study [5] has collected mtDNA haplogroup frequency data from several populations, including Greece, and the islands of Crete, Lemnos, and Rhodes. The frequency data are shown in the table below. The Sub-Saharan influence amounts to 2 L sequences in Crete, for a total of 1% of the island, and 0.4% of the total studied Greeks.The European average of L sequences (N=10,859) is 0.7%. M sequences cannot be attributed to a racial origin, since haplogroup M is divided into different clades which occur at appreciable frequencies in the Caucasus, Middle East, North Africa, South as well as East Asia, and could thus have diverse origins; Greek M sequences have been attributed to the West Eurasian M1 clade [6]. M sequences occur in Greece at a total rate of 1.7%. The average of them in Europe (N=10,859) is 0.8%.

Population	Sample size	H*	H5	HV0	HVa	R0a	J	T1	T2	U1	U2e	U3	U4	U5a	U5b	U6	U7	U8	U*	K	N1	N2	X	M	L	Other
Crete	202	39.1	3.5	1	3	0	5.4	3	10.9	2	0.5	7.9	0.5	2	3	0	0.5	0	0	7.4	1.5	0	4	1	1	3
Greece	155	34.8	3.9	1.9	3.2	1.9	13.5	2.6	3.9	1.9	0.6	1.9	2.6	4.5	2.6	0	1.3	0	0.6	4.5	4.5	1.3	4.5	2.6	0	0.6
Lemnos	60	43.3	6.7	0	0	0	5	0	16.7	3.3	1.7	0	1.7	0	0	0	0	5	0	8.3	1.7	3.3	0	3.3	0	0
Rhodes	42	33.3	2.4	0	0	0	7.1	0	14.3	0	0	11.9	0	2.4	0	0	4.8	2.4	0	7.1	4.8	2.4	2.4	0	0	4.8
Total	459	37.7	3.9	1.1	2.4	0.7	8.3	2.2	9.6	2	0.7	5.2	1.3	2.6	2.2	0	1.1	0.9	0.2	6.5	2.8	1.1	3.5	1.7	0.4	2

References

1. Richards et al., Tracing European founder lineages in the Near Eastern mtDNA pool. American Journal of Human Genetics, 67, 1251-1276. Online paper and supplementary data in Vincent Macaulay's home page.
2. Michele Belledi et al., Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations, European Journal of Human Genetics, 8, 480 - 486 (01 Jul 2000)
   
3. Giuseppe Passarino et al., Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms, European Journal of Human Genetics10, 521 - 529 (23 Aug 2002)
   
4. Esteban J. Parra et al., Estimating African American Admixture Proportions by Use of Population-Specific Alleles, Am. J. Hum. Genet., 63:1839-1851, 1998
   
5. A. Achilli et al., Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans, American Journal of Human Genetics (in press) (2007)
   
6. A. Olivieri et al., The mtDNA Legacy of the Levantine Early Upper Palaeolithic in Africa, Science, Vol. 314. no. 5806, pp. 1767 - 1770 (2006)
   

Greek Y-chromosomes

Greek Y-chromosomes

by Dienekes Pontikos

http://dienekes.50webs.com/arp/articles/greeknry/

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

A newer study by Semino et al. [10] has studied two samples of Greeks of size 84 and 59 (Macedonian Greeks). The focus was on two specific haplogroups E and J which are frequent in the Mediterranean region and can be used to detect population movements between Europe, Africa and the Near East. 2.4% of Greeks belong in haplogroup E-M123 and 21.4% in E-M78. Clades of E prevalent in Northern or Sub-Saharan Africa were not found. According to Cruciani et al. [11] most Greeks and other Balkan people belong to a specific cluster a within haplogroup E-M78 that is found in lower frequencies outside the Balkans and marks migrations from the Balkan area. E-M123 and its daughter haplogroup E-M34 originated in the Near East in prehistoric times. As for haplogroup J, most Greeks (22.8% Greeks/14.3% Macedonian Greeks) belong to J-M172 and its subclades which is associated with Neolithic population movements. Only 1.8%/2.2% of Macedonian Greeks/Greeks belonged to haplogroup J-M267 which could potentially (althought not certainly) reflect more recent Near Eastern admixture.
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

Firasat et al. [15] tested 77 Greeks as part of a study of the purported Greek origins of certain ethnic groups of Pakistan. The breakdown of the observed haplogroups is given in the table below. One haplogroup H2 was observed, which is more typical of South Asian populations.

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

Martinez et al. [16] has studied a sample of 168 Greek men from Lasithi and Heraklion in Crete. No Sub-Saharan African influence was detected, and 2 Q chromosomes, which could conceivably be indicative of Asian influence were detected. The exact origin of these is uncertain, since no downstream markers were typed. The Y chromosome haplogroups detected in this sample are listed below (click to magnify).
King et al. [17] sampled 193 Cretans and 171 mainland Greeks from Central Macedonia near Nea Nikomedeia, Thessaly within the southeast Larissa basin and near Sesklo/Dimini and Northwest Peloponnese near Franchthi Cave and Lerna. No non-Caucasoid haplogroups were found, and the results indicate a relationship between the Cretan samples with Anatolia and the mainland Greek ones with the Balkans, with the Peloponnesian sample showing a closer affinity to Crete. The authors interpret their findings as indicative of separate sources for the Neolithization of mainland Greece and Crete. Interestingly, the age of haplogroup E-V13, the Balkan clade of haplogroup E3b makes it a candidate for being present in the Mesolithic rather than being introduced in the Neolithic. E-M81, the North African clade of E3b is found at 1.8% in Nea Nikomedeia and in Sesklo/Dimini and not in Greece, confirming the limited influence of Africa to the Greek population; its absence from Crete is inconsistent with ideas of an African origin of the Minoan civilization.
Battaglia et al. [18] have studied a sample of 92 Greek men from Athens and 57 Macedonian Greeks. With the exception of a single haplogroup C chromosome, all other men belonged to typical Caucasoid Y-chromosomes. The occurrence of haplogroup E-M81 in four men, and J1 in three men, may reflect North African (2.7%) or Near Eastern (2%) input into the Greek population. The resuts of this study are listed below:
Thus, at present, in a total of nine studies, in which 1,724 Greek males were tested, one HG16, one HG28, one HG10/HG36, one H2, one haplogroup A, two haplogroup Q, and one haplogroup C chromosomes have been found, for a total of 0.46% possible non-Caucasoid contribution to the modern Greek male gene pool. Additionally, the latest studies [9, 10, 18] with a more refined version of the Y chromosome phylogeny indicate that influences from the Near East and North Africa in historical times are unlikely (perhaps in the order of ~2%). Additionally, Y chromosome haplogroup R1a which is very frequent in Slavic populations (>50%) is found in only around ~10% of Greeks, and is also found at comparable frequencies further East (10.8% in Iraq; Al-Zahery et al. [12]) indicating that its presence in Greece need not be associated with medieval intrusions by Slavic speakers. The emerging picture of Y chromosome variation in Greece indicates genetic continuity, with slight influences from neighboring Caucasoid regions and virtually no influence from non-Caucasoids.
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

1. Rosser et al. (2000) European Y-Chromosome Diversity. Am J Hum Genet 67:1526-1543
   
2. Helgason et al. (2000) Ancestry of Icelandic Y Chromosomes. Am J Hum Genet 67:697-717
   
3. Malaspina et al. (2000) Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa. Ann Hum Genet 64:395-412
   
4. Semino et al. (2000) The genetic legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective
   
5. Zerjal et al. (2002) Y-Chromosomal Insights into Central Asia. Am J Hum Genet 71:466-482
   
6. Qamar et al. (2002) Y-Chromosomal DNA Variation in Pakistan. Am J Hum Genet 70:1107-1124
   
7. Zerjal et al. (1997) Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 60:11741183
   
8. Weale et al. (2001) Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group. Hum Genet 109: 659-674
   
9. 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
   
10. 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)
    
11. 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)
    
12. 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
    
13. 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)
14. 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)
15. Firasat et al. (2006) Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan. Eur J Hum Genet. (to appear)
16. Laisel Martinez et al. (2007) Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau, European Journal of Human Genetics
17. King et al. (2008) Differential Y-chromosome Anatolian Influences on the Greek and Cretan Neolithic, Annals of Human Genetics 72,205–214
18. Battaglia et al. (2009) Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe, European Journal of Human Genetics (in press)

(a) This author does not maintain that there is anything wrong in principio with non-Caucasoid influences.

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

Composites of Greek and European Female Athletes

Composites of Greek and European Female Athletes

by Dienekes Pontikos

Methods

In the Composite Greek Woman, an average of 16 Greek actresses, singers, politicians, and tv presenters were averaged to create an overall composite. In a new experiment, 15 female Greek volleyball players were morphed into a single composite using Sqirlz Morph 1.2e. All women with Greek names from Panathinaikos and Panellinios volleyball clubs were used. Pairwise averaging was not used in this case, but Sqirlz Morph constructed a single average from all 15 input images. Morphing was also applied to sets of 16 women from 12 different European groups, comprising of Torino 2006 Winter Olympic athletes. The 16 first (alphabetically) females from each group were selected. Examples whose face was rotated excessively away from frontal view -defined as rotation that obscured one of the nasal wings- were dismissed. Individuals whose hair obscured a substantial part of their face were also dismissed. Finally, individuals of obvious foreign origin, were also dismissed. None of the Balkan countries could provide 16 individuals on their own, so Croatia, Serbia and Montenegro, FYRO Macedonia, and Bulgaria were pooled to form a "Balkan Slav" group. For the same reason, Latvia, Lithuania, and Estonia were pooled to form a "Baltic" group.
All the final composite images were cropped to contain mainly the head, and resized to a height of 200 pixels. Subsequently the Sharpen More and One Step Photo Fix filter in Jasc Pain Shop Pro v. 9 was applied. It should be noted that differences in pigmentation should not be inferred from these composites, since original picture collections differed greatly in lighting and contrast conditions. At most, the pictures should be interpreted as shape averages of a large collection of accomplished female athletes from the different groups.

Results

The 15 original Greek volleyball players are pictured below.

The Greek composite picture is given below.

The European composite pictures are given below: 1. Swedish 2. Russian 3. Polish 4. German 5. Czech 6. British 7. Balkan Slav 8. Austrian 9. French 10. Finnish 11. Italian 12. Baltic.