Towards a genetic history of Sicily

Towards a genetic history of Sicily

J. Cult. Heritage 1 (2000) Sup.39 – Sup.42 © 2000 E´ditions scientifiques et me´dicales Elsevier SAS. All rights reserved 1296-2074(00)01071-2/SCO To...

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J. Cult. Heritage 1 (2000) Sup.39 – Sup.42 © 2000 E´ditions scientifiques et me´dicales Elsevier SAS. All rights reserved 1296-2074(00)01071-2/SCO

Towards a genetic history of Sicily Alberto Piazzaa*, G. Matulloa,b, V. Romanob,c, G.F. Ayalab, C.T. Bonannod, F. Calı`b, C. D’Annad, R. D’Annac, G. De Leoc, O. Giambalvoe, S. Guarreraa, C.R. Guglielminof, A. Salernod, G. Zeig a Dipartimento di Genetica, Biologia e Biochimica, Universita` degli Studi di Torino, Torino, Italy OASI Istituto per la Ricerca sul Ritardo Mentale e l’Involuzione Cerebrale (I.R.C.C.S), Troina, Italy c Dipartimento di Biopatologia e Metodologie Biomediche, Facolta` di Medicina e Chirurgia, Universita` degli Studi di Palermo, Palermo, Italy d Dipartimento di Biopatologia e Metodologie Biomediche, Facolta` di Medicina e Chirurgia, Universita` degli Studi di Palermo, Palermo, Italy e Istituto di Statistica Sociale, Facolta` di Economia, Universita` degli Studi di Palermo, Palermo, Italy f Dipartimento di Genetica e Microbiologia dell’Universita` di Pavia, Pavia, Italy g Istituto di Genetica Biochimica ed Evoluzionistica del CNR di Pavia, Pavia, Italy

b

1. Introduction The purpose of this note is to present a very tentative outline of the project at the background of this meeting: the analysis of human variation in Sicily. It is part of a larger study sponsored and granted by the Italian National Council of Research (Progetto Finalizzato Beni Culturali) and other national and local institutions. It can be also considered connected to the European side of the Human Genome Diversity Project, a world based initiative whose future is not yet well finalised in terms of financial resources, but whose general goal is to sample ethnically interesting populations and to keep their DNA so as to save their biological memory for the future and to give the prospective researchers the possibility to update their genetic analysis as far as the continuous advances of molecular technology can allow. It is obviously an interdisciplinary effort and the presence in this meeting of scholars from different fields is the best guarantee to avoid the frequent error of basing the interpretation of the results of his own discipline on an inaccurate understanding of evidence from other disciplines. A paradigmatic example of this misun* Correspondence and reprints E-mail address: [email protected], molinette.unito.it (A. Piazza).

alberto.piazza@

derstanding is the interpretation of mitochondrial data, specially the dating of mitochondrial lineages. A major source of confusion in this field which is partially relevant for our topic has been the paper by Richards et al. [1] on the relative importance of Palaeolithic and Neolithic settlements in Europe as viewed by the mitochondrial lineages found in the extant European populations. They suggest their results are more in agreement with the idea of a local development of the farming techniques, in parallel with a diffusion by very few farmers from the Near East. This suggestion resulted from a calculation by which most mitochondrial lineages coalesce at ancestors presumably living in the Upper Palaeolithic period and is based on an evolutionary model of European populations which does not take into consideration a demic expansion. The elementary consideration that the age of a group of mitochondrial types may overestimate the age of the population from which they come adds to the fact that in their analysis the limited number of samples from Near East, only 42 individuals, mostly from Arabian peninsula, does not make it likely that most founder haplotypes have been identified. There are, moreover, apparent contradictions with other evi-

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dence [2], one of which is the correlation between genetic data and linguistic patterns that are very unlikely to have been established earlier than Neolithic [3]. An interesting contribution to this problem was the finding of two DNA polymorphisms of chromosome Y recently identified in about 3 000 individuals which seem to describe the male genetic contributions, respectively, from the Palaeolithic and the Neolithic gene pools, in present European populations [4]. The interest of Sicily does not need to be pointed out: archaeology, palaeoanthropology, pre-history, history, anthropology, ethnology, linguistics, all reflect a complex and partially documented stratification of settlements and resettlements of people from different ethnic origin which the genetic analysis of extant human samples tries to reconstruct. How consistent is the traditional grouping of the island people in Sicanians, Sicels and Elymi, their ethnic origin and their continuity across the following colonisation are topics which we like to learn more about in this meeting. We limit our contribution to the evidence we have today about the genetic structure of Sicily with some excursions into linguistics and surname structure which seem useful. 1.1. Genetic heterogeneity To our knowledge the first genetic analysis of Sicily has been published in the context of a genetic study of Italy [5] where non-DNA (blood groups, proteins, HLA, etc.) genetic polymorphisms have been analysed. A subsequent study which added to the same set of data more recent results, specially in Sicily [6], used different statistical methods and compared the genetic information with the surname distributions provided by the telephone directories [7]. All these analyses agree in displaying a genetic heterogeneity in Sicily which is specially apparent in the separation of the western side, the geographical area traditionally supposed to be settled by the Elymi, followed by the Phoenician and the Carthaginian people, from all the rest of the island. Note that genetic differences, specially when calculated from classical, non-DNA, polymorphisms cannot provide dates of settlements without an external reference, a biological clock with supposed constant rate of change able to scale the time of population genetic differentiation from a hypothetical common origin. An interesting feature of our genetic analysis of Italy based on 34 genes, is a clear north – south gradient showing a remarkable discrimination of Magna Graecia from the rest of the mainland. The

genetic similarity of the Italian southern regions with modern Greece, the genetic difference between the western and eastern parts of Sicily (the Phoenician colony of Motya in the western area of the island is very well defined: matter of chance?) and finally the definition of a geographical area around the delta of the Po river which was described as the possible Adriatic site (Spina, Adria) of later (IV century BC) Greek settlements; all these coincidences suggest a Greek gene flow as a relevant factor. A non-trivial question to raise for making this interpretation more plausible is whether the Greek colonies were of such size to justify a diffusion of their genes. Because of the geographical position of Greece as door from the Near East to the Mediterranean, by the end of the Bronze age the average density of the population was higher in Greece than in Europe (3.7 inhabitants per km2) by a factor of three [8]. Between 1000 BC and 400 BC the population doubled in Europe, increasing from 10 to 20 million: in the same period the population trebled in Greece, reaching a total of 3 million [8]. By 400 BC, Italy, the second most densely populated country in Europe after Greece, had about 4 million people [8, 9]. The Greek colonies of Sicily alone accounted for 1.5 million people, of which more than 10% (about 200 000) were of Greek origin [9, 10]. Even if these numbers must be taken with caution, their order of magnitude does not contradict the idea of a possible introduction in Sicily and in the south of Italy of Greek genes whose dilution in the autochthonous genetic pool is still apparent. Surname analysis in Sicily does not contradict both the heterogeneity of its settlements (roughly reflecting the geographical distribution of its different dialects) and the relatively abundant occurrence (about 10%) of surnames of Greek origin [11]. The difficulty of discriminating different strata of settlements, however, is well exemplified by the classical case of the spread of a pathological mutant, the HbS gene producing the sickle cell anaemia, to Sicily: as shown by Schiliro` and collaborators [12] the frequency of the gene is highest in the eastern and southern coasts of the island reaching the maximum (6.6%) in the town of Butera settled by Cretans from Gela about 500 years BC and conquered by Arabs after 1 300 years in the 800 AD: we are dealing with an obvious founder effect but by whom, by the Cretans rather than by the Arabs coming from the Maghreb, is difficult to assess on the basis of the genetic evidence alone. The molecular RFLP haplotype called Benin which is exclusively associated with the mutation found in Sicily does not resolve the matter because if it is true that it was most probably originated in an African area

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corresponding to modern Nigeria, from there it also reached North Africa and Greece. A peculiar feature of the demographic structure of Sicily is the high proportion of consanguineous marriages, the highest in Italy. The data provided by the catholic church marriage dispensations (Zei, Moroni, Menozzi and Cavalli-Sforza, personal communication) show that Sicily had a remarkably high incidence of uncle–nephew (0.003) and first cousin (0.045) marriages. This structural peculiarity which is confirmed by the very high ratio (number of census people)/(number of surnames) requires some explanation and in any case it reflects a very fragmented dispersion of isolated communities with specific effects on their genetic structures: a high proportion of homozygous individuals is expected. 1.2. Dialects of Sicily Previous experience [13] showed that the geographical clustering of different dialectal varieties is a very useful tool for a systematic sampling of people in various geographical areas and for testing possible genetic discontinuities. A recent review on the dialects of Sicily is given in Ruffino [14] from where the following pieces of information are taken. The traditional classification of the Sicilian dialects divides Sicily into two sections, distinguished by the presence (central dialects: Madonie, Nisseno-Ennese, E.Agrigentino; eastern dialects: south-eastern, northeastern, Catanese-Siracusan, Messinese) or absence (western dialects: Palermitan, Trapanese, Central Western Agrigentino) of metaphony. The non-metaphonic area was further subdivided in diphthongless dialects and dialects with ‘unconditioned’ diphthongisation (occurring regardless of the identity of the following vowel). Ruffino himself [14] claims the need of a more flexible approach taking into account a series of diachronic and synchronic morphological, syntactic and lexical criteria. He also notes that the isoglosses he has hitherto analysed [15] are extremely fragmented and are refractory to static classificatory schemes. Such fragmentation is claimed to be caused by the complex vicissitudes of Sicily’s linguistic and demographic history [16, 17], but a simpler explanation could be a very biased selection of lexical features which are remarkably interesting from the cultural point of view but, quite for the same reason, they may be very unstable in time and space for classificatory purposes. It is possible that a richer and more ‘universal’ selection of the vocabulary to be mapped will generate a more reliable classification.

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1.3. A pilot study: Troina and Sciacca As a pilot study to test the feasibility to dissect the genetic history of Sicily, one sample from the northeastern (linguistically non-metaphonic), Troina, and one sample from the central western Agrigentino (linguistically diphthongless non-metaphonic), Sciacca (from the Arab toponym as saqha after it was conquered by the Arabs in 814 AD; called previously Thermae Selinuntinae by Romans), have been analysed for three autosomal DNA microsatellite loci (HUMTH01, HUMFES/FPS, HUMvWA31) for a total of 24 independent alleles. Their gene frequencies have been compared with those of 13 populations: Portugal, Basques, Spain, France, continental Italy, Austria, Germany, United Kingdom, Switzerland, Netherlands, Hungary, Turkey, Africa. Sampling: 111 and 89 individuals have been sampled from Troina (3 808 families) and Sciacca (13 310), respectively. The distribution of their surnames is not statistically different from that of the telephone users. An analysis of the telephone directories which excluded non-familial surnames showed that on a total of 475 (Troina) and 1 776 (Sciacca) surnames, 51 (Troina, 11%) and 125 (Sciacca, 7%) have a Greek origin. Moreover Troina and Sciacca share 137 surnames of which 18 (13%) are of Greek origin. Preliminary results: gene frequencies, genetic distances, principal component analysis and phylogenetic trees show that Troina and Sciacca are genetically more similar than either of them with all other European (including continental Italy) and non-European samples. The phylogenetic tree is sufficiently robust by the bootstrap testing and shows the common first split which separates African and non-African samples. The following splits separate in the order: the cluster of the two Sicilian samples, the Turkish and the Basques followed by all other samples.

2. Conclusion We also tried to estimate possible genetic admixture of the Sicilian samples with other populations. Unfortunately the lack of a Greek sample did not allow the testing of the possible presence of genes of Greek origin as expected from the surname flow, but the observed possible contribution of African (Arabs?), continental Italy and Middle Eastern genes (from Turkey) may reflect an ethnic stratification that the present limited number of Sicilian samples and of DNA markers are not able yet to resolve.

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References [1] Richards M., Corte-Real H., Forster et al., Palaeolithic and neolithic lineages in the European mitochondrial gene pool, Am. J. Hum. Genet. 59 (1996) 185–203. [2] Cavalli-Sforza L.L., Minch E., Palaeolithic and neolithic lineages in the European mitochondrial gene pool, Am. J. Hum. Genet. 61 (1997) 247–251. [3] Barbujani G., Bertorelle G., Chikhi L., Evidence of palaeolithic and neolithic gene flow in Europe, Am. J. Hum. Genet. 62 (1998) 488–491. [4] Semino O., Passarino G., Brega A., Fellous M., Santachiara-Benerecetti A.S., A view of the Neolithic demic diffusion in Europe through two Y chromosome-specific markers, Am. J. Hum. Genet. 59 (1996) 964–968. [5] Piazza A., Cappello N., Olivetti E., Rendine S., A genetic history of Italy, Ann. Hum. Genet. 52 (1988) 203–313. [6] Zei G., Barbujani G., Lisa A., Fiorani O., Menozzi P., Siri E., Cavalli-Sforza L.L., Barriers to gene flow estimated by surname distribution in Italy, Ann. Hum. Genet. 57 (1993) 123–140. [7] Piazza A., Rendine S., Zei G., Moroni A., CavalliSforza L.L., Migration rates of human populations from surname distributions, Nature 329 (1987) 714–716. [8] McEvedy C., Jones R., Atlas of World Population History, Penguin, Harmondsworth, 1978.

[9] Beloch J., Die Bevo¨lkerung der grieschisch-ro¨mischen, Welt, Leipzig, 1886. [10] Brunt P.A., The Italian Manpower, Clarendon Press, Oxford, 1971. [11] Guglielmino C.R., Zei G., Cavalli-Sforza L.L., Genetic and cultural transmission in Sicily as revealed by names and surnames, Hum. Biol. 63 (1991) 607 – 627. [12] Schiliro` G., Gangarosa S., A melting pot of races and civilisations, Sphere 15 (December), Comprehensive Sickle Cell Centre, Augusta, Sicily, 1991. [13] Cavalli-Sforza L.L., Menozzi P., Piazza A., The History and Geography of Human Genes, Princeton University Press, Princeton, New Jersey, 1994. [14] Ruffino G., Sicily, in: Maiden M., Parry M. (Eds.), The Dialects of Italy, Routlege, London, 1997, pp. 365– 375. [15] Ruffino G., Isoglosse siciliane, in: Tre Millenni di Storia Linguistica della Sicilia, Atti del Convegno della Societa` Italiana di Glottologia, Giardini, Pisa, 1985, pp. 161 – 224. [16] Varvaro A., Lingua e storia in Sicilia, Sellerio, Palermo, 1981. [17] Tusa S., Origine della societa` agro-pastorale, in: Balistreri A., Giannitrapani E., Nicoletti F., Picciotto C., Titi L., Tusa S. (Eds.), Prima Sicilia, Alle Origini della societa` siciliana, Ediprint, Palermo, 1997, pp. 173 – 191.