Mtdna Haplogroups in the Populations of Croatian Adriatic Islands

Coll. Antropol. 24 (2000) 2: 267–279 UDC 572:575.116(497.5) Original scientific paper

MtDNA Haplogroups in the Populations of Croatian Adriatic Islands

H. V. Tolk1, M. Peri~i}2, L. Bara}2, I. Martinovi} Klari}2, B. Jani}ijevi}2, I. Rudan3, J. Parik1, R. Villems1 and P. Rudan2

1 Department of Evolutionary Biology – Institute for Molecular and Cell Biology, University of Tartu, Tartu, Estonia 2 Institute for Anthropological Research, Zagreb, Croatia 3 »Andrija [tampar« School of Public Health, Faculty of Medicine, University of Zagreb, Zagreb, Croatia

ABSTRACT

The number of previous anthropological studies pointed to very complex ethnohistorical processes that shaped the current genetic structure of Croatian island isolates. The scope of this study was limited to the general insight into their founding populations and the overall level of genetic diversity based on the study mtDNA variation. A total of 444 randomly chosen adult individuals from 32 rural communities of the islands of Krk, Bra~, Hvar and Kor~ula were sampled. MtDNA HVS-I region together with RFLP sites diagnostic for main Eurasian and African mtDNA haplogroups were analysed in order to determine the haplogroup structure. The most frequent haplogroups were »H« (27.8–60.2%), »U« (10.2–24.1%), »J« (6.1–9.0%) and »T« (5.1–13.9%), which is similar to the other European and Near Eastern populations. The genetic drift could have been important aspect in history, as there were examples of excess frequencies of certain haplogroups (11.3% of »I« and 7.5% of »W« in Krk, 10.5% of »HV« in Bra~, 13.9% of »J« in Hvar and 60.2% of »H« in Kor~ula). As the settlements on the islands were formed trough several immigratory episodes of genetically distant populations, this analysis (performed at the level of entire islands) showed greater genetic diversity (0.940–0.972) than expected at the level of particular settlements.

Introduction are among the best characterised human isolate resources in the world. As a result The four islands in eastern Adriatic, of the continuous anthropological research Croatia (Krk, Bra~, Hvar and Kor~ula) during the past quarter of century, more

Received for publication November 29, 2000.

267 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279 than 100 publications refering to these very valuable in the emerging field of mo- populations have been recorded in the in- lecular anthropology due to the three ternational biomedical and anthropologi- important properties of mtDNA: high cal databases to date. The strategy of the mutation rate35, strictly maternal inhe- research was set by Rudan1–3, who recon- ritance36 and the absence of recombina- structed the ethnohistory and demogra- tion. Due to maternal inheritance, mito- phy and analysed the linguistic pecula- chondrial genome as a single locus has rities of these populations with Sujold`i} four times smaller effective population et al.5–7. In addition, the detailed anthro- size than nuclear autosomal loci. This in- pometrical measurements were carried creases the sensitivity of mtDNA diver- out by Rudan et al.8, physiological mea- sity to fluctuations in population size and surements were performed by Smolej- the effect of genetic drift in small isolated -Naran~i} et al.9,10, dermatoglyphics stud- populations. Most studies conducted so ied by Rudan11 and Mili~i} et al.12,13, and far using mtDNA can be considered as the migrational analyses carried out by macro-geographical in their approach (out- Jovanovi} et al.14,15 and [poljar-Vr`ina et -of-Africa, peopling of Americas, Europe al.16–18. Using the obtained data, the pop- etc.) while the micro-geographic studies ulation structure in the studied region are still quite exceptional and only start- was assessed through the holistic appro- ing to emerge37, 38. According to numerous ach relying on the model-bound me- previous studies, human mtDNA varia- thods19,20, the model-free methods21–24 and tion is highly region-specific, giving a original experimental designs 25. good background for more detailed stud- The insight into population structure ies on isolated populations. of these islands has prompted further This paper presents the very first population genetic research. The initial mtDNA study on Croatian population in results were obtained through isonymy order to describe the mtDNA structure in studies26,27 and the analyses of assorta- the context of European haplogroups pro- tive mate choice28. These simple appro- viding an additional explanation to previ- aches were followed by blood sampling ous research conducted on the popula- and the analysis of the distribution of tions of the Adriatic islands. The aim of allelic frequencies of some basic seroge- this study is to determine population genetic polymorphysms in collaboration with netic structure in isolated rural popula- the laboratory in Newcastle upon Tyne, tions of four Adriatic islands (Krk, Bra~, UK. The most important findings were Hvar, and Kor~ula) using mtDNA varia- published by Jani}ijevi} et al.29 and Rob- tion, and to find out is there any »non- erts et al.30. Following the emergence of -Caucasoid« mtDNA types as well as to molecular genetic technology, the rese- study the diversity levels. arch has been extended to include the analysis of STR and VNTR DNA polymorphysms in the papers by Martinovi} Brief genetic history of the studied et al.31–34. populations Recently, the collaboration was estab- In terms of the genetic history of these lished between the Institute of Anthropo- four island populations, the most impor- logical Research in Zagreb, Croatia, and tant characteristic that needs to be em- the Institute of Molecular and Cell Biol- phasised is that the current populations ogy in Tartu, Estonia to study the charac- were formed through several immigra- teristics of mtDNA in Croatian island po- tory episodes of genetically quite distant pulations. This type of study has become populations.

268 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279

The archeological evidence recently were influencing the shaping of the cur- reviewed by Forenbaher39 implies that rent genetic structure was recently re- the first settlers of the eastern Adriatic viewed by Rudan et al.40. It is important islands were Mediterranean non-Indo- to note that the founder unit of the popu- -European people who probably came lation is a settlement (village) rather than from the south of today’s Italy and were each island itself, and that any study later replaced by Indo-European Illyri- analysing the diversity at the level of en- ans. The oldest archaeological evidence of tire island populations, such as the pres- human settlements on the Dalmatian is- ent one, is expected to reveal far more di- lands date back to Neolithic, approxima- versity than it would be expected within tely 5,000 years before present (YBP). the single villages. From about the 10th century BC onward the Illyrians ruled the entire region of eastern Adriatic coast. Sample and methods Subsequent migratory episodes in the A) Sample early B.C. period brought Greeks (4th cen- As the scope of this research was lim- tury B.C.) and then Romans (2nd century ited to performing the general overview B.C. onward). Romans organised their of the haplogroups in the populations of settlements at the coastline of the is- interest, and bearing in mind that the lands, as they were used as harbours on previous analyses of the other world pop- the trade routes from the western Adri- ulations were based on very small sample atic coast to Greece, Middle East and sizes, we decided to include 15–20 adult Northern Africa. The extent of the Ro- persons from each village found on each man admixture with preexisting Illyrians of these four islands. The examinees were is difficult to estimate. then randomly chosen from parish regis- The first great influx of Croats onto tries in those villages. The final sample the Adriatic islands occurred between 6th size was 105 in Bra~ island, 108 in Hvar and 8th century. The Croats gradually island, 98 in Kor~ula island and 133 in Slavicised the islands, but the extent of Krk island, i.e. the total of 444 individu- their genetic admixture with Romans, als from 32 rural communities (Figure 1). Greeks and Illyrians is unknown. It is important to emphasise that the sampling was not based on the likely The second large immigration wave founder populations (villages) but merely resulted from migrations from the main- on geography (islands) and that the se- land of the Balkans peninsula during the lected individuals therefore constitute a expansion of the Ottoman empire. The very heterogenous group with respect to greatest influx of the immigrants occur- possible founders. The blood samples th red in the 17 century during the Can- were collected during the field research dian and Morean wars. The Croatian im- by the staff of the Institute for Anthropo- migrants brought their own customs and logical Research in Zagreb, Croatia in the gene pool, but the settlements they foun- late 1980’s and early 1990’s following the ded remained isolated from those of the appropriate approval of the ethical com- preexisting settlers throughout the cen- mitee on this institution. All the subse- turies due the various political, cultural quent molecular analysis of the mtDNA and legal barriers to intermarriage im- was performed in the Estonian Biocentre 19 posed by the governors . and Department of Evolutionary Biology The detailed ethnohistory of these po- at the Institute of Molecular and Cell Bi- pulations and the historic events that ology, University of Tartu, Estonia.

269 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279

Fig. 1. Location of the study regions in Croatia

B) MtDNA analysis. re analysed on an Applied Biosystems Model on a 377 DNA sequencer (Perkin- The whole blood from investigated in- -Elmer). A selection of RFLP sites (73 dividuals was obtained by venipuncture Alw44I, 663 HaeIII, 1715 DdeI, 3592 and collected into EDTA tubes, which we- HpaI, 4577 NlaIII, 7025 AluI, 8249 re transferred for storage at –40 °C. The AvaII, 8994 HaeIII, 9052 HaeII, 10028 amount of 10 ml of whole blood was used AluI, 10237 HphI, 10032 AluI, 10394 for DNA extraction using the macrome- DdeI, 10397 AluI, 11465 TruI, 12308 thod of Ponz et al.41. Hypervariable seg- HinfI, 12406 HincII, 12704 MboI, 13366 ment I (HVS-I) of the control region of mi- BamHI, 13704 BstOI, 14465 AccI, 14766 tochondrial DNA (mtDNA) was amplified TruI, 15606 AluI, 15904 TruI), diagnostic with primers A15909 (5´-ACACCAGTCT- for main Eurasian and African mtDNA TGTAAACCGG-3´) and B16498 (5´-CCT- haplogroups42–47, was screened. The num- GAAGTAGGAACCAGATG-3´) followed bering of mtDNA is based on comparison by sequencing of the segment between with the Cambridge Reference Sequence nps16024 and 16383 with primers H15975 – CRS48,49. (5´-CTCCACCAT-TAGCACCCAAAG-3´) and F16420 (5´-TGATTTCACGGAGGAT- GGTGG-3’) by use of DYEnamicTM ET C) Data analysis terminator cycle sequencing premix kit The alignment of the sequences was (Amersham Pharmacia Biotech). The fluo- carried out by the Wisconsin Package rescently labelled extension products we- (GCG). The haplogroup classification was

270 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279 carried out using the system based on Results both D-loop and RLFP markers42–47,50–52. Based on these studies, all Eurasian A) The frequency distribution of mtDNA mtDNAs are descendants of the Sub-Sa- haplogroups haran haplogroup L3. According to the Neanderthal sequences53,54 the root of the The most frequent mtDNA haplogro- mitochondrial DNA lies in the African- ups found in the four islands were »H« -specific haplogroup L1. More than 90 per (27.8–60.2%), »U« (10.2–24.1%), »J« (6.1– cent of extant European mtDNA lineages –9.0%) and »T« (5.1–13.9%). This fre- can be classified as belonging among 9 quency pattern is generally similar to the mtDNA haplogroups (H, I, J, K, T, U, V, other European and Near Eastern popu- W and X) 44, 46. Eastern Asian populations lations (Table 1). However, some single are described as belonging to haplogro- cases of the Asian-derived haplogroups ups A, B, F, M, and Y and there is no ex- »A« and »F« and a Sub-Saharan haplo- tensive sharing between these two gro- group »L« were also identified. However, ups of populations except for regional it is recognised that »Non-European« ha- contact zones like Central Asia55. Chi- plogroups (i.e. »A«, »B«, »L«, »M«, »R*«, -square test (with Yates correction) was »U6« and some ambiguous groups) can used in order to determinate statistically usually be found in the very low frequen- significant difference between the fre- cy in the European and Near Eastern quencies of haplogroups. populations, with the approximate share The phylogenetic analysis was carried of 1.65 % (68 of 4,108)52. In Europe, these out applying the median network met- can typically be found in the populations hod56 using both D-loop and RFLP data. inhabiting the areas bordering other lar- The median network approach is useful ge geographical regions (e.g. Northern Af- in a case of high mutation rate, which rica, Near East, Caucasus and Urals), causes many parallel mutations in phylo- through which the transfer of African or genetically distant branches. The method Eastern Eurasian lineages could have permits describing of numerous equally happened. parsimonious phylogenetic trees at the Table 1 presents in detail the frequen- same time. cies of the haplogroups found in the four Genetic diversity index57, the distribu- Adriatic islands, as well as the frequen- tion of pairwise differences, mean num- cies of selected European and Asian pop- ber of pairwise differences58,59 using HVS-I ulations that are presented for compari- (bps 16024–16383) data were calculated son. It should be noted that, although a by software package Arlequin 2.060. The general frequency pattern reasonably shape of the distribution of pairwise dif- corresponds to other European popula- ferences (pairwise mismatch distributi- tions, on each of the four islands there are on, PMD) is proposed to give the idea statistically significant departures from about the expansion events in population frequencies noticed in the populations of histories. The bell-shaped distribution East Medditerranean and south-east Eu- demonstrates the population expansion rope for certain haplogroups or their sub- events in the past; whereas the »bumpy« clusters. This supports the ethnohisto- distributions indicate constant populati- rical evidence on the long-term isolation on size or genetic bottleneck effects. The of these populations, as in such condition coalescence time calculations were based the effects of inbreeding, genetic drift and on mutation rate of 20,180 years cali- founder effect can theoretically cause brated for the HVS-I61. very significant departures from the fre-

271 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279 13.9 1 0 0 0 0 0 5.4 0 0 0 2 1.30 4.7 0.7 0 0 5 1.1 0.9 0.2 0 000000 0 00022.55.513.5 51 0 0 0 0 4.5 4.5 7.6 0.8 2.9 0 0 0.3 0 0 0010000 1 5.10 00.2905.70 00001.92.900 0 11008.21.900 2 90000000 0 5.30 – HAPLOGROUP FREQUENCIES 0 0 0 6.8 5.4 0.7 0 0.7 11.6 0 1.4 0 2 TABLE 1 A B F H HV I J** J1 J2 L M N1a N1b N1c pre-HV T** T1 U** K U1 U2 U3 U4 U5 U5a U5b U6 U7 V W X N* R* 98 0 0 0 60.2 4.1 1 6.1 98 10.2 4.1 2 1 0 1 n n 147520 0510 0.4199 0.2 0 0.4149 0 0.4 0233 0 0 0.4248 0 0 25.2 27.6 12.9218 0 0 6.2 6.3314 1.4 0 0.4 0 1217 2.2 2 0 0 0 0 26.6147 8.8 13.3 0 0 35.6456 4 38.2 4.8 0 0 0 4.3 5.4316 3.4 2.6 0 0 0 1.4 2 0.8 29.8398 2 4.7 0.3 0 0 1.7 0.7 46.3 4.4 14.1 7.3 0.8 0 0 39.5 0 8.2 1.6 47.8 0.5 7.5 2.4 5.4 1.5 0 0 9.5 48.8 1.3 2.6 2.4 1.8 2 0 9.3 0.7 0 0 62.6 0.5 11.5 0.7 2.2 0 0.6 0 1.6 0.7 48.5 0 51.6 0.9 5 0.5 2 9.9 1.6 1.2 1.3 3.2 1.3 42.7 0.3 0.4 7.4 0 3.5147 1 0.6 0 0.3 3.1 0 2 0.7 0 1.3 1.3 1.8520 13.8 0.3 10.1 6.8 2.8 5.8 0.7 19 8.5510 0 2.7 0.9 0.8 2.6 1 0.5 0.8 0.5 2 26.3 8 6.1199 0 2.2 8.5 0.7 3.7 11.8 0.2 0.9 0 0.5 23.1 6 12.2149 0.4 6.3 0.6 0.3 2.9 0.7 0 0.5 5.1 22.1 1.5 0.7233 0 0 4 6.8 0 1.3 3.9 0.6 0 0.3 1.2 25.3 2.5248 0 4 0.5 0.4 1.4 0.7 27 0.8 6.7 0.6218 0.3 0 0 5.2 5.5 0 0.5 0 1.7 5.3 2 23.4314 0 2 1.5 1.9 2 0.3 0 0.4 1.3 11.2 16.9 8.5217 2.9 0 5.5 10.1 0.4 0.4 2 1.5 0.6 0 0 21.2 0.7147 7.3 0.5 0 3.5 3.2 3.3 0 12.1 1.5 0 3 1.5 0.3 13.6456 5.5 0.8 1.3 0 0.5 0.3 2 2.4 0 2.4 1.4 17.5316 1.2 4.8 0.9 0 1.4 0 0.6 1.2 10.8 2.7 4.3 0.8 22.2398 8.3 0.7 7.7 10.1 0 0.2 0 1.4 10.3 7.5 1 1.2 3.5 25.4 0.2 6 0 4.7 0.9 1.8 0 0 6.7 1.3 8.2 4.6 5.2 7.5 9.7 2.5 0 0.5 7.2 0 2.9 2.7 1.5 1.3 1.8 8.3 4.7 1 0.4 5.2 0.7 0.3 2.8 2 8 1.9 0 5.5 0 1.5 0 3.2 0 7.8 3.7 0.8 1.5 2.3 0.3 0.4 5.4 1.9 1.5 1.8 1.3 2.7 2.2 0 3.8 0 5.5 1.2 2.2 3.2 1.4 3.9 2.5 13.3 7 12.3 1.2 4 0 0 2.3 0 3 7.5 0.4 6.3 4.2 1.3 0 1.6 0 1.4 3.8 1.8 3.7 1.3 1.3 4 0 5.5 1.8 0.7 0 5.1 2.8 0.9 0 1.6 0 0 1.4 0.4 0 2.2 3.8 0 0.8 0.3 0 0.9 0 0 0.3 0 0 52,64,65 52,64,65 47,52,63,67 47,52,63,67 50,52,70 50,52,70 52,66 52,66 52,65 52,65 50,52,74 50,52,74 71,72 71,72 50,52,76,77 50,52,76,77 62 62 43,52 43,52 50,52,75–77 50,52,75–77 43,63 43,63 52,71,73 52,71,73 50,68,69 50,68,69 Egypt and Nubia Kor~ula (Current study) North West Europe Bra~ (Current study)Hvar (Current study) 105 108 0 0 0Medditerranean East 0Southeastern Europe 0 8.3 35.2 27.8 10.5 4.6 1 1.9 9.3North 8.6 West Europe Scandinavia 1.8 Krk (Current study)Bra~ (Current study)Hvar (Current study)Kor~ula (Current study) 133 105 22.6 108 23.8 6.8 24.1 9.5 0 3.7 1 0 1.5 0 0 4.6 2.9 0 3 1 0.9 11.3 14.8 8.6 4.5 5.5 7.6 6.8 9.3 0 0 0 0 5.3 6.5 7.5 1.9 0 1.9 0 0 0 0 Middle East Anatolia and S. Caucasus North Caucasus Medditerranean East Southeastern Europe Central Mediterranean Alps North Central Europe Mediterranen West Basque Scandinavia North East Europe Krk (Current study) 133 0.8Middle East Anatolia 0 and S. Caucasus North Caucasus 0 33.8Central Mediterranean 4.5Alps 11.3 North Central Europe Mediterranen West Basque North East Europe Egypt and Nubia ** J, T and U summarise the frequencies of subclusters J, J1, J2; T, T1; and K, U1-U7 respectively

272 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279 quencies that would be expected. In this (vi) the increased frequency of haplo- study, the most prominent examples are: group »I« in Krk Island (f(»I«)=11.3%), (i) the increased frequency (f) of haplo- which is significantly different from the group »H« in Kor~ula island in compari- other three islands (p=0.001). The incre- son to the other islands (f(»H«)=60.2%, ased frequency of this haplogroup can be p=0.001); When this frequency is com- found in the populations of eastern Me- 52, 66 pared to the geographically close popula- diterranean whereas the comparison tions of south-east Europe52,65 and East ith the frequency reported for the south- 52,65 Mediterranean52,66, the significant differ- weastern Europe (f(»I«)=1.7%) reveals ence can also be found (p=0.001). The only significant difference (p=0.005). Europeans with the recorded frequency of (vii) the increased frequency of haplo- haplogroup H greater than the one in group »W« in Krk island (f(»W«)=7.5%). Kor~ula are the Basques (62.6%)52,71,73. This haplogroup is the most frequent in the north-eastern Europe50,76,77 (f(»W«)= (ii) the increased frequency of the sub- =4.5%), whereas the frequencies in Medi- cluster »U2« in Hvar island, where it terranean range form 1.3% (east)52,66 to comprises 4.6% of island’s mtDNA diver- 2.8% (west)71,72. The frequency in Krk Is- sity. It is the highest frequency of sub- land is significantly greater (p=0.017) cluster U2 recorded in Europe; than in other islands, as well as in the (iii) the increased frequency of the other populations of eastern Mediterra- haplogroup »J« in Hvar island (f(»J«)= nean52,66 (p=0.023). =13.9%), which is significantly greater The occurrence of the minor haplo- than the frequency recorded in the other groups in European gene pool was de- investigated islands (p=0.006). The com- tected as well. Most of them are deriva- parison with other eastern Mediterrane- tives of supergroup »N1«: haplogroup »I« an population52,66, however, did not re- was detected in all islands, several indi- veal statistically significant difference; vidualds belonging to haplogroups »N1a« (iv) the increased overall frequency of and »N1b« are present in Bra~, and two the haplogroup »V« in eastern Adriatic is- persons from Hvar belong to haplogroup lands (f(»V«)=6.8%) in comparison to ot- »X«. The single case of haplogroup »pre- her eastern Mediterranean populati- -HV«, relatively frequent in north-east- ons52,66 (f(»V«)=2%, p=0.048), although ern Africa (6.1%)62, and Middle East there was no significant difference when (5.8%)43,52,63, is present in Kor~ula. that frequency was compared to the over- Similarly, some of the other »non- 52,65 all one in the south-eastern Europe -Caucasoid« haplogroups were exclusive (f(»V«)=3.9%). for some islands. Haplogroup »F«, charac- (v) the increased frequency of haplo- teristic for south-eastern Asian popula- group »HV« in Bra~ Island (f(»HV«)= tions, was found only on Hvar island =10.5%), which is significantly greater (8.3%). However, the rare occurence of than the frequency recorded in the other unusual haplotypes due to individual mi- investigated islands (p=0.038). The ha- gratory experiences in ancient history plogroup »HV« represents merely the an- can be expected in any population in the cestral node shared by haplogroups H world, especially those susceptible to the and V, and its frequency on Bra~ Island is impact of the founder effects such as is- also significantly greater from the reports land isolates. Therefore, the report on on the east Mediterranean52,66 (f(»HV«)= this finding and the discussion of its im- =3.4%; p=0.042) and south-eastern Europe52,65 plications will be discussed in a separate (f(»HV«)=2.6%; p=0.005). paper.

273 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279

Haplogroup »A« (Asian-specific haplo- The values of genetic diversity index ran- group) is extremely rare in Europe (with ged from 0.944 in Kor~ula island to 0.976 frequencies significantly less then 1% re- in Hvar Island (Table 2). Although those ported in north-eastern Europe and Scan- estimates indicate greater diversity than dinavia50,52,75–77). This haplogroup was in some other isolated populations such detected in 1 examinee from Krk Island. as Sardinians (0.936)63, Saami (0.815)76, A single case of Sub-Saharan haplogroup and Basque (0.936)73, but lower than in »L2a« is noticed in Kor~ula. diverse population like Turks – 0.99564,65, Overall phylogenetic relationship of it should again be emphasised that this mtDNA data of the investigated popula- relatively high level of diversity was actu- tions are showen in Figure 2. MtDNA ally expected because the sample came types are grouped to haplogroups accord- from all the villages founded by geneti- ing to RLFP and D-loop data. cally very distant founders in the various historic periods. B) Insights into population origin and The pairwise mismatch distibution of genetic diversity the whole dataset was carried out for To assess the genetic relationship at each island separately (Figure 3) in order the mtDNA level among populations from to assess the historical changes in popu- the four studied eastern Adriatic islands, lation size. The typical human population the 444 obtained samples were sequenced in expansion would reveal unimodal Pois- and 147 different haplotypes were ob- son distribution, while the populations tained. The addition of the RLFP data al- which have undergone severe bottleneck lowed the identification of 151 lineages. effects would reveal »bumpy« distribu-

TABLE 2 GENETIC DIVERSITY, MEAN NUMBER OF PAIRWISE DIFFERENCES AND THEIR COALESCENCE TIMES ACCORDING TO HVS-I DATA (BPS 16024-16383). Mean number of Coalescence time in Island Sample size Gene Diversity pairwise differences (95% CI) years (95%CI) 4.18 42,200 Krk 133 0.960 (3.00–5.97) (30,300–60,300) 4.29 43,300 Bra~ 105 0.968 (3.14–5.23) (31,700–52,800) 5.55 56,000 Hvar 108 0.976 (3.50–7.50) (35,400–75,700) 3.31 33,500 Kor~ula 98 0.944 (1.93–6.79) (19,500–68,500)

Fig. 2. Median-joining network showing the phylogenetic relationship of mtDNA haplogroups detected in Krk (n=133, green circles), Bra~ (n=105, yellow circles), Hvar (n=108, blue circles), and Kor~ula (n=98, red circles). Bold lines denote diagnostic RLFP or HVS-I (transversions are shown with letters) sites according to CRS. Each hairline link denotes one mutation in HVS-I region (bps 16024-16383). Small white circles indicate putative predecessors not yet sampled in islands. Num- ber inside the circle \ indicates the number of individuals sharing the same mtDNA haplotype. Large black-lined circles are indicating haplogroups typical for western Eurasia; red-lined circle contains sub-Saharan haplogroup L2a, and blue-lined circle eastern Eurasian haplo-groups A and F. ®

274 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279

1 1

1 9

2 3 2 15 2 1 1 1

K 2 1

2 3

2 1

51 1

3 9

Y 5 3 3 6 1 1 1 8 M 2 1 2 N1b 1 10 1

7 1 2

89 1 1 1

2 78 I 1 1

12 0 2 241 6 2 4 3 44 2 2 1 1 65

92 1 356 3 291

30 9 1

2 3 1 2 16311 8 28

8 356 4 14 1 1 12

1 1 176GA 29

1 17 2 3 1 68

3 01 6 189 1 1 1 241 1

1 162 16129 9 1 3 55 N1a 1 3 260 1 1 4 1 8

4 0 3

9 2 8 129 39 1 99 1 2

311 16176CG 320 2 36 1 X 1 92 1 1 CRS 287

H 158 14 1 154 18 10032 221 +AluI- 168 1 16189 293 6 5 180 1 16145 16147CA 184 1

309 8 36 5

2 209 8249 1 3

4 -AvaII+ 35 1 1 6 23 2 L2a 224 16172 16278 94 2

3 2 4

1 1 7025 5 +AluI- +AccI- 14465 1 47 3 1 N1 2

19 2 10 1 93 3 1 2 218 2 1 3 10237 192 3 11 -HphI+ 5

69 2 1 1 14766 95 256 W 3 311 -TruI+ 294 16294 1 3

9 2 5 9 16126 1 292 HV 1 22 6 16278 16298 8249 1715 1 +DdeI- +AvaII-

0 294 27 16362 8994 10394 1 1 -HaeIII+ 2 -DdeI+663 A 2 pre-HV 319 362 16266 311 -HaeIII+ 290 -Alw44I+00073 1 1 15904 16223 311 +TruI- 8 16

1 207 1 V 311 8 4577 249 304 12704 232CA 12406 189 2 6 -NlaIII+ +MboI- 311 4 1 169 1 16304 -HincII+ F 6 3 223 1

2 6 1 1 1 2 16126 1 1 9 13704 62 3 2 30

93 3 1 189 -BstOI+ 1 1 366 U1 12308 -HinfI+ J 111 172 10394

9 8 11465 1 1 9CT 222 4 12 16069 5 145 3 234 +TruI- 1 4 1 14 +DdeI- 311 1 327 2 61 2 15606 189 +AluI- 362 U2 4 1 1 22 13366 172 16129GC 92 16249 +BamHI- 2

3 8 1 1 2 1 U 261 256 1 7 16051 U3 311 16343 1 104 5 16294 1 1 1 16356 16270 93 1 311 16296 79 1 246 AT 9052

153 16163 1 U5 34 98 -HaeII+ 4 2 3 10397 6 1 2 +DdeI-

89 1 256 304 1 1 U4 4 2 2 7 3 1

8 3 19 223 1 2 2

301 4 3 213 289 16224 2 1

299 4 4 16186 3 3 360

2 91

4 1 1 1 1 1 278 2 6 3 9 1 K 4

129

6 16311 29

186 3 24

129 0 9 2 4

245 16189 93 1 3 1 1 1 69 1

1 1 9 8 136 1 1 304

8 1 1 1 11 1 1 3 2

3 2 0 2 3 3 1 9 362 9 19 2 8 6

1 292

301 1 3 1 182 1 1 1 8 24 1 1

3 2 8 7

1 8 T 1 4 3 04 6 26 2 3 1 9 1 271 1 1 1 1

275 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279 tion. The obtained distributions are rat- ulations is similar, having about the sa- her typical for European populations, al- me range. None of these estimates reflect though the mismatch distribution of the of course the settlement of investigated population of Kor~ula island seems to be islands. What they reveal, however, is shaped more strongly by a founder effect. that the initial expansion of the mtDNA The Hvar Island’s population reveals two lineages found in the four islands, is a peaks, indicating two expansion phases representative in this sense subset of the and/or the reduction in population size. maternal lineage pool that started to ex- However, it is possible that the bell- pand around 40,000–50,000 YBP, possibly -shaped graph could have been changed during the early phases of the settlement due to the significant proportion of the se- of Europe in early Upper Palaeolithic. quences from haplogroup F.

25 Discussion Total Bra~ As the number of previous anthropo- 20 Kor~ula logical studies pointed to the very com- Hvar plex ethnohistorical processes that shaped Krk 15 the current genetic structure of Croatian island isolates, the scope of this study 10

Percentage was limited to the very rough insight into the founding populations of these islands 5 and into the overall level of genetic diversity. It is expected that the sampling of 0 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 considerable number of the examinees at Number of pairwise differences the level of specific villages could point to Fig. 3. Pairwise mismatch distribution of the the settlements which remained isolated HVS-I region (bps 16,024-16,383) of the four and inbred for centuries due to specific populations from the islands of Krk, Bra~, Hvar, political or cultural barriers. This could Kor~ula, and for the total sample size pooled result in considerable reduction in ge- together. netic diversity, which could qualify such populations for the subsequent studies of quantitative traits or complex diseases in Using the mean number of pairwise humans. However, the design of the pres- difference and the mutation rate descri- ent study, where the examinees were ran- bed by Forster et al.6 the coalescence domly drafted from all the villages re- times were estimated. The results (Table gardless of their founder characteristics 2) indicate that the coalescence times of or the tendency towards isolation and in- mtDNA types of the populations of Krk breeding could only result in the greater and Bra~ are quite similar, between diversity than it would be expected in an 40,000 and 50,000 years. The coalescence isolate, as the current populations were time of the population of the island of formed through a number of immigratory Hvar has is also quite similar, 56,000 episodes pursued by genetically very dis- years. Only Kor~ula has lower coalescen- tinct populations at the various points in ce estimate approximately 33,500 years, time. which could indicate the different genetic At least two historical events could history, possible genetic drift in recent have shaped the present distribution of past. But the 95% confidence interval of mtDNA haplogroup frequencies regard- coalescence times of all investigated pop- less the founder effects. Due the plague

276 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279 epidemics 4–5 centuries ago and the »wi- We conclude that the populations of ne crisis« at the beginning of the 20th the four eastern Adriatic islands (Krk, century there were significant reductions Bra~, Hvar and Kor~ula) exhibit the in population size. Those two »bottle- mtDNA haplogroups characteristics simi- neck« effects could have caused a sub- lar to the other European populations, stantial non-random loss of certain ha- and the frequency pattern of various haplogroups from the original population. plogroups also corresponds to the neigh- However, the results of this study reveals boring populations. There is evidence that the mtDNA diversity is still rela- that founder effect could have played sig- tively high. A large part of this genetic di- nificant role in shaping the genetic struc- versity could have been recreated due to ture of the contemporary islanders, as several migration waves from the main- there were many examples of significant- land areas during the Turkish wars19. ly increased frequencies of certain rare The overall pattern of the frequency haplogroups in some islands. The level of distribution of the mtDNA haplogroups genetic diversity was not as low as in was similar to the other European and some other established isolates, but it Near Eastern populations. About 98% of was not expected either because the sam- the identified haplogroups are character- pling design of this study did not take in istic for contemporary western Eurasian the account the likely founding popula- populations, while the remaining 2% tion of each specific village. There is a comprise of the sporadic cases of the ha- good chance that the additional studies in plogroups »L«, »A« and »F«. Those rare the specific sub-populations of these is- non-European haplogroups seem to have lands could reveal extremely decreased been brought to Europe relatively re- genetic diversity in some villages, promp- cently. The estimates of diversity, regard- ting future linkage disequilibrium stud- less of the sampling considerations, still ies of the genetic determinants of quanti- show the lower levels of diversity than tative traits and complex diseases in the populations of the Near East63–65. The humans. fact that the overall diversity in Kor~ula Island (as a whole) is only slightly greater Acknowledgements than in some well-known isolates inclu- ding Basques, Saamis, and Sardini- We thank Toomas Kivisild for helpful ans63,71,73,76 implies that the diversity in discussions, Ille Hilpus, Jaan Lind, and some villages of these islands could be ex- Maere Reidla for technical assistance. tremely reduced. In addition, there are at This work was supported by Estonian least three more island populations that Science Foundation grant to R.V. and by should have the levels of genetic diversity the Ministry of Science and Technology of even lower than Kor~ula Island (i.e. Vis, the Republic of Croatia grant to P.R. (pro- Lastovo and Mljet), so the similar re- ject title: Population structure of Croatia search should be extended to those is- – Biomedical approach, no. 01960101). lands in the future.

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H.V. Tolk

Department of Evolutionary Biology – Institute for Molecular and Cell Biology, University of Tartu, Riia 23, 51010 Tartu, Estonia

M. Peri~i}

Institute for Anthropological Research, Amru{eva 8, 10000 Zagreb, Croatia

MtDNA HAPLOGRUPE POPULACIJA HRVATSKIH JADRANSKIH OTOKA

SA@ETAK

Brojna antropolo{ka istra`ivanja provedena do danas na otocima Jadrana ukazala su na vrlo kompleksne etnopovijesne procese {to su formirali geneti~ku strukturu su- vremenih hrvatskih oto~nih izolata. Predmet je ovog prou~avanja ograni~en na op}i uvid u populacije utemeljitelja i na stupanj geneti~ke razli~itosti dana{njeg stanov- ni{tva temeljem prou~avanja varijacija mtDNA. Ukupno su prou~ene 444 slu~ajno iza- brane odrasle osobe iz 32 seoske zajednice otoka Krka, Bra~a, Hvara i Kor~ule. MtDNA HVS-I regija zajedno s RFLP polo`ajem utvr|ene su za glavne Euroazijske i Afri~ke mtDNA haplogrupe i analizirane u cilju utvr|ivanja strukture haplogrupa. Naju~e-

279 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279 stalije haplogrupe su »H« (27,8–60,2%), »U« (10,2–24,1%), »J« (6,1–9,0%) i »T« (5,1– –13,9%), koje su sli~ne drugim populacijama Evrope i Bliskog istoka. Geneti~ki drift mogao je biti zna~ajan aspekt u povijesti hrvatskih oto~nih izolata, budu}i da postoje odstupanja u frekvenciji nekih haplogrupa (11,3% »I« i 7,5% »W« na Krku, 10,5% »HV« na Bra~u, 13,9% »J« na Hvaru i 60,2% »H« na otoku Kor~uli). Kako su naselja na otocima oformljena tijekom nekoliko imigracijskih epizoda geneti~ki udaljenih populacija, ova analiza (provedena na razini otoka) pokazala je ve}u geneti~ku razli~itost (0,940– –0,972) od one {to ju o~ekujemo na razini pojedinih naselja.

280 H. V. Tolk et al.: MtDNA Haplogroups in Croatians, Coll. Antropol. 24 (2000) 2: 267–279 stalije haplogrupe su »H« (27,8–60,2%), »U« (10,2–24,1%), »J« (6,1–9,0%) i »T« (5,1– –13,9%), koje su sli~ne drugim populacijama Evrope i Bliskog istoka. Geneti~ki drift mogao je biti zna~ajan aspekt u povijesti hrvatskih oto~nih izolata, budu}i da postoje odstupanja u frekvenciji nekih haplogrupa (11,3% »I« i 7,5% »W« na Krku, 10,5% »HV« na Bra~u, 13,9% »J« na Hvaru i 60,2% »H« na otoku Kor~uli). Kako su naselja na otocima oformljena tijekom nekoliko imigracijskih epizoda geneti~ki udaljenih populacija, ova analiza (provedena na razini otoka) pokazala je ve}u geneti~ku razli~itost (0,940– –0,972) od one {to ju o~ekujemo na razini pojedinih naselja.

280