Genetics of the Peloponnesean populations and the theory of the extinction of the Medieval Peloponnesean Greeks

SUPPLEMENTARY INFORMATION

Supplementary Figures:

Supplementary Figure 1. Locations of the Populations listed in Supplementary Table 2.

Supplementary Figure 2. Comparisons of Peloponneseans with non –European populations.

Supplementary Figure 3. Testing the hypothesis of Armenian ancestry of Peloponneseans.

Supplementary Figure 4. Unique genetic structure of the populations of Mani.

Supplementary Figure 5. Testing the hypothesis of Mardaitic origin of Maniots.

Supplementary Figure 6. Unique genetic structure of the population of Tsakonia.

Supplementary Tables:

Supplementary Table 1. Districts of origin of the subjects

Supplementary Table 2. Populations used in this study

Supplementary Table 3. IBD Shared between Peloponnesean populations



Supplementary Table 1. Districts of origin of the subjects

Districts / Subjects / Used in PCA analysis
Achaea / 25 / 25
Αrgolis / 16 / 16
Αrcadia / 15 / 13
Elis / 24 / 24
Corinthia / 16 / 16
Laconia / 26 / 25
Messenia / 26 / 26
East Tayetos / 23 / 23
West Tayetos / 24 / 24
Deep Mani / 22 / 22
Τsakonia / 24 / 24

TOTAL 241 238

Supplementary Table 2. Populations used in this study1,#.

Population / Region / Samples / Reference
Belarusian / East Europe / 8 / 1
Belorusians / East Europe / 9 / 2
Russia_A / East Europe / 21 / 3
Russian / East Europe / 25 / 6
Russians / East Europe / 1 / 4
Ukranians / East Europe / 20 / 5
Estonians / North Europe / 15 / 4
Finns / North Europe / 25 / 3
Lithuanians / North Europe / 10 / 2
Swedish / North Europe / 18 / 7
German / Central Europe / 13 / 8
Hungarians / Central Europe / 41 / 3
Polish / Central Europe / 17 / 7
Danes / West Europe / 43 / 3
French / West Europe / 29 / 6
Irish / West Europe / 19 / 3
Orcadian / West Europe / 16 / 6
Basque / SW Europe / 24 / 6
IBS (Iberians)2 / SW Europe / 107 / 9
Spaniards / SW Europe / 12 / 2
Andalusia2 / SW Europe / 9 / 10
Italian / South Europe / 13 / 6
Sardinian / South Europe / 28 / 6
Tuscan / South Europe / 8 / 6
Sicily2 / South Europe / 20 / 12
TSI (Italians) / South Europe / 107 / 9
Veneto2 / South Europe / 10 / 11
Crete2 / SE Europe / 129 / 11,12
Dodecanese2 / SE Europe / 20 (10) / 11,12
Peloponnese2,* / SE Europe / 238 (229) / 13
East Rumelia2,3 / SE Europe / 12 / 12
Macedonia2,3 / SE Europe / 22 / 12
Puglia2,3 / SE Europe / 14 / 13
Serbia2 / SE Europe / 20 / 12
Ashkenazi / Europe / 23 / 3
CEU / Europe / 99 / 9
Pontos2 / Asia Minor / 49 / 13
Cappadocia2 / Asia Minor / 10 / 12
Asia Minor2 / Asia Minor / 49 (31) / 13
Abhkasians / Caucasus / 20 / 5
Adygei / Caucasus / 20 / 3
Adygei / Caucasus / 16 / 6
Armenians / Caucasus / 16 / 5
Chechens / Caucasus / 20 / 5
Georgian / Caucasus / 10 / 7
Georgians / Caucasus / 20 / 2
Kumyks / Caucasus / 14 / 5
Altaians / Siberia / 3 / 4
Dolgans / Siberia / 1 / 4
Evens / Siberia / 2 / 4
Selkups / Siberia / 7 / 4
Yakut / Siberia / 21 / 3
Iranians / Middle East / 20 / 2
Turkmens / Middle East / 15 / 5
Uzbeks / Middle East / 4 / 4
Druze / Near East / 47 / 6
Jordanians / Near East / 19 / 2
Maronites / Near East / 10 / 13
Lebanese / Near East / 7 / 2
Palestinian / Near East / 51 / 6
Syrians / Near East / 16 / 2
Kurds / Near East / 6 / 5
Bedouin / Arabia / 48 / 6
Saudis / Arabia / 20 / 2
Yemenese / Arabia / 10 / 2
Yemenites / Arabia / 37 / 3
Ethiopians / East Africa / 31 / 3
Mozabite / East Africa / 30 / 6
Algeria / North Africa / 19 / 10
Egypt / North Africa / 19 / 10
Libya / North Africa / 17 / 10
Morocco_N / North Africa / 18 / 10
Morocco_S / North Africa / 16 / 10
Sahara_Occ / North Africa / 18 / 10
Tunisia / North Africa / 18 / 10

1 Sample sizes are after QC. For our PCA analyses, the following populations were combined: Russian [6] and Russians [4] into Russia; Adygei [3] and Adygei [6] into Adygei; Belarusian [1] and Belorusians [2] into Belarusian; Georgian [7] and Georgians [2] into Georgian.

2 Population was included in IBD analysis. Population sizes in parentheses are the number of samples included in the IBD analysis.

3 Population was included in IBD analysis but not in PCA analysis.

#In the comparisons of the Peloponneseans with non-Greek populations, the number of commons SNPs in our analyses ranged between 76,000 and 277,000, depending on the particular datasets that were merged and the genotyping platform of each dataset. When the Peloponneseans were compared with other Greek populations that we had genotyped in the past, the number of common SNPs in our analyses was over 1,000,000.

*Of the 241 Peloponneseans 238 were used for PCA analysis and 229 for IBD analysis. Data from 3 individuals were excluded from both the PCA and IBD analyses because they were outliers. Data from 9 individuals were not included in the IBD analysis because they entered the study after the IBD analysis had been completed.

References:

[1] Kushniarevich, Alena, et al. "Genetic heritage of the Balto-Slavic speaking populations: A synthesis of autosomal, mitochondrial and Y-chromosomal data."PLoS ONE10.9 (2015): e0135820.

[2] Behar, Doron M., et al. "The genome-wide structure of the Jewish people."Nature466.7303 (2010): 238-242.

[3] Rajeevan, Haseena, et al. "ALFRED: an allele frequency resource for research and teaching."Nucleic Acids Research(2011): gkr924

[4] Raghavan M, Skoglund P, Graf KE, Metspalu M, Albrechtsen A, Moltke I, et al. Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans.Nature505 (2014): 87–91. doi: 10.1038/nature12736. pmid:24256729

[5] Yunusbayev, Bayazit, et al. "The Caucasus as an asymmetric semipermeable barrier to ancient human migrations."Molecular Biology and Evolution29.1 (2012): 359-365.

[6] Li, Jun Z., et al. "Worldwide human relationships inferred from genome-wide patterns of variation."Science319.5866 (2008): 1100-1104.

[7] Behar, Doron M., et al. "No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews."Human Biology85.6 (2013): 859-900.

[8] Yunusbayev B, Metspalu M, Metspalu E, Valeev A, Litvinov S, Valiev R, et al. (2015) The Genetic Legacy of the Expansion of Turkic-Speaking Nomads across Eurasia. PLoS Genetics 11(4): e1005068. doi:10.1371/journal.pgen.1005068

[9] Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, and Abecasis GR; 1000 Genomes Project Consortium (2015). A global reference for human genetic variation. Nature 526, 68-74.

[10] Henn, Brenna M., et al. "Genomic ancestry of North Africans supports back-to-Africa migrations."PLoS Genetics8.1 (2012): e1002397.

[11] Stamatoyannopoulos G, Tsetsos F, Plantinga A, Lazaridis I, Vannaki E, Razou A, Kanaki K, Michalodimitrakis M, Perez-Jiminez F, De Silvestro G, Renda MC, Kidd KK, Stamatoyannopoulos JA, Browning BL, Paschou P, and Drineas P (2016). Genetic history of the population of Crete. (Submitted)

[12] Paschou, Peristera, Petros Drineas, Evangelia Yannaki, Anna Razou, Katerina Kanaki, Fotis Tsetsos, Shanmukha Sampath Padmanabhuni et al. "Maritime route of colonization of Europe."Proceedings of the National Academy of Sciences111, no. 25 (2014): 9211-9216.

[13] Present study.


Supplementary Table 3. IBD Shared between Peloponnesean populations

Population / N / Proportion of Pairs with IBD2 / Mean (SD) Length (cM)3 / Mean Pairwise IBD (cM)4
IBD Shared With Deep Mani (n=22)1
Achaea / 21 / 44.2% / 3.0 (1.1) / 1.8
Arcadia / 13 / 57.3% / 3.0 (1.1) / 2.6
Argolis / 16 / 38.4% / 3.1 (1.2) / 1.8
Corinthia / 16 / 43.2% / 3.0 (1.3) / 1.8
East Tayetos / 23 / 94.3% / 3.7 (1.9) / 35.2
Elis / 23 / 53.0% / 3.2 (1.3) / 2.7
Laconia / 26 / 73.8% / 3.4 (1.5) / 11.3
Messenia / 21 / 54.1% / 3.2 (1.2) / 2.8
Northern Tsakonia / 9 / 65.2% / 3.2 (1.3) / 3.9
Southern Tsakonia / 15 / 69.1% / 3.2 (1.4) / 4.2
West Tayetos / 24 / 96.2% / 3.6 (1.8) / 36.9
IBD Shared With Southern Tsakonia (n=15)1
Achaea / 21 / 60.0% / 3.2 (1.3) / 3.3
Arcadia / 13 / 78.5% / 3.4 (1.5) / 5.1
Argolis / 16 / 65.8% / 3.4 (1.6) / 4.2
Corinthia / 16 / 70.4% / 3.1 (1.2) / 3.5
Deep Mani / 22 / 69.1% / 3.2 (1.4) / 4.2
East Tayetos / 23 / 89.0% / 3.2 (1.4) / 7.0
Elis / 23 / 64.1% / 3.2 (1.2) / 3.2
Laconia / 26 / 88.0% / 3.5 (2.0) / 9.7
Messenia / 21 / 64.4% / 3.2 (1.3) / 3.5
Northern Tsakonia / 9 / 100.0% / 4.4 (2.7) / 94.1
West Tayetos / 24 / 82.8% / 3.2 (1.4) / 5.3

1 All values are based on identity by descent (IBD) segments in cross-population pairs, where a cross-population pair is a pair of individuals such that one individual is from Deep Mani or Southern Tsakonia and the other is from the listed population.

2 “Proportion of Pairs with IBD” is the proportion of possible cross-population pairs that share at least one 2 cM IBD segment. A higher proportion indicates that more individuals in the two populations share some IBD with each other.

3 “Mean (SD) Length” is the average and standard deviation of the segment lengths. Longer segments tend to have been inherited from more recent common ancestors.

4 “Mean Pairwise IBD (cM)” is the average amount of IBD shared between an individual in Deep Mani or Southern Tsakonia and an individual in the specified partner population. This is calculated as the sum of the lengths of IBD segments shared between a pair of individuals in the two populations, then divided by the number of unique pairs of individuals in the two populations and by four times the genome length (for the four ways to pair chromosomes between two people). We excluded pairs of individuals who shared more than 40% IBD, i.e., half siblings, full siblings and avuncular pairs.