Abstract
We sampled teeth from 53 ancient Sardinian (Nuragic) individuals who lived in the Late Bronze Age and Iron Age, between 3,430 and 2,700 years ago. After eliminating the samples that, in preliminary biochemical tests, did not show a high probability to yield reproducible results, we obtained 23 sequences of the mitochondrial DNA control region, which were associated to haplogroups by comparison with a dataset of modern sequences. The Nuragic samples show a remarkably low genetic diversity, comparable to that observed in ancient Iberians, but much lower than among the Etruscans. Most of these sequences have exact matches in two modern Sardinian populations, supporting a clear genealogical continuity from the Late Bronze Age up to current times. The Nuragic populations appear to be part of a large and geographically unstructured cluster of modern European populations, thus making it difficult to infer their evolutionary relationships. However, the low levels of genetic diversity, both within and among ancient samples, as opposed to the sharp differences among modern Sardinian samples, support the hypothesis of the expansion of a small group of maternally related individuals, and of comparatively recent differentiation of the Sardinian gene pools.
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Achilli A, Rengo C, Battaglia V, Pala M, Olivieri A, Fornarino S, Magri C, Scozzari R, Babudri N, Santachiara-Benerecetti AS, Bandelt HJ, Semino O, Torroni A (2005) Saami and Berbers—an unexpected mitochondrial DNA link. Am J Hum Genet 76:883–886
Achilli A, Olivieri A, Pala M, Metspalu E, Fornarino S, Battaglia V, Accetturo M, Kutuev I, Khusnutdinova E, Pennarun E, Cerutti N, Di Gaetano C, Crobu F, Palli D, Matullo G, Santachiara-Benerecetti S, Cavalli-Sforza LL, Semino O, Villems R, Bandelt HJ, Piazza A, Torroni A (2007) Mitochondrial DNA variation of modern Tuscans supports the Near Eastern origin of Etruscans. Am J Hum Genet 80:759–768
Bandelt HJ, Forster P, Sykes BC, Richards MB (1995) Mitochondrial portraits of human populations using median networks. Genetics 141:743–753
Barbujani G, Bertorelle G, Capitani G, Scozzari R (1995) Geographical structuring in the mtDNA of Italians. Proc Natl Acad Sci USA 92:9171–9175
Barbujani G, Goldstein D (2004) Africans and Asians abroad: Genetic diversity in Europe. Annu Rev Genomics Hum Genet 5:119–150
Barbujani G, Sokal RR (1990) Zones of sharp genetic change in Europe are also linguistic boundaries. Proc Natl Acad Sci USA 87:1816–1819
Barbujani G, Sokal RR (1991) Genetic population structure of Italy. II. Physical and cultural barriers to gene flow. Am J Hum Genet 48:398–411
Belle EM, Ramakrishnan U, Mountain JL, Barbujani G (2006) Serial coalescent simulations suggest a weak genealogical relationship between Etruscans and modern Tuscans. Proc Natl Acad Sci USA 103:8012–8017
Cappello N, Rendine S, Griffo R, Mameli GE, Succa V, Vona G, Piazza A (1996) Genetic analysis of Sardinia: I. Data on 12 polymorphisms in 21 linguistic domains. Ann Hum Genet 60:125–141
Caramelli D, Lalueza-Fox C, Vernesi C, Lari M, Casoli A, Mallegni F, Chiarelli B, Dupanloup I, Bertranpetit J, Barbujani G, Bertorelle G (2003) Evidence for a genetic discontinuity between Neandertals and 24,000-year-old anatomically modern Europeans. Proc Natl Acad Sci USA 100:6593–6597
Casas MJ, Hagelberg E, Fregel R, Larruga JM, Gonzalez AM (2006) Human mitochondrial DNA diversity in an archaeological site in al-Andalus: genetic impact of migrations from North Africa in medieval Spain. Am J Phys Anthropol 131:539–551
Cavalli-Sforza LL, Piazza A (1993) Human genomic diversity in Europe: a summary of recent research and prospects for the future. Eur J Hum Genet 1:3–18
Cooper AR, Poinar H (2000) Ancient DNA: do it right or not at all. Science 289:1139
Di Rienzo A, Wilson AC (1991) Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci USA 88:1597–1601
Dupanloup I, Pereira L, Bertorelle G, Calafell F, Prata MJ, Amorim A, Barbujani G (2003) A recent shift from polygyny to monogamy in humans is suggested by the analysis of worldwide Y-chromosome diversity. J Mol Evol 57:85–97
Excoffier LG, Laval S, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50
Fraumene C, Petretto E, Angius A, Pirastu M (2003) Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. Hum Genet 114:1–10
Gilbert MTP, Hansen AJ, Willerslev E, Rudbeck L, Barnes I, Lynnerup N, Cooper A (2003) Characterization of genetic miscoding lesions caused by postmortem damage. Am J Hum Genet 71:48–61
Handt O, Krings M, Ward RM, Pääbo S (1996) The retrieval of ancient human DNA sequences. Am J Hum Genet 59:368–376
Hofreiter M, Serre D, Poinar HN, Kuch M, Pääbo S (2001) Ancient DNA. Nat Rev Genet 2:353–359
Manni F, Toupance B, Sabbagh A, Heyer E (2005) New method for surname studies of ancient patrilineal population structures, and possible application to improvement of Y-chromosome sampling. Am J Phys Anthropol 126:214–228
Morelli L, Grosso MG, Vona G, Varesi L, Torroni A, Francalacci P (2000) Frequency distribution of mitochondrial DNA haplogroups in Corsica and Sardinia. Hum Biol 72:585–595
Nei M, Kumar S (2000) Molecular evolution and phylogenetics. Oxford University Press, Oxford
Piazza A, Cappello N, Olivetti E, Rendine S (1988) A genetic history of Italy. Ann Hum Genet 52:203–213
Poinar HN, Hoss M, Bada JL, Pääbo S (1996) Amino acid racemization and the preservation of ancient DNA. Science 272:864–866
Poinar HN, Stankiewicz BA (1999) Protein preservation and DNA retrieval from ancient tissues. Proc Natl Acad Sci USA 96:8426–8431
Quintana-Murci L, Veitia R, Fellous M, Semino O, Poloni ES (2003) Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis. Am J Phys Anthropol 121:157–171
Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW (2002) Genetic structure of human populations. Science 298:2381–2385
Sampietro ML, Caramelli D, Lao O, Calafell F, Comas D, Lari M, Agusti B, Bertranpetit J, Lalueza-Fox C (2005) The genetics of the pre-Roman Iberian Peninsula: a mtDNA study of ancient Iberians. Ann Hum Genet 69:535–548
Seielstad MT, Minch E, Cavalli-Sforza LL (1998) Genetic evidence for a higher female migration rate in humans. Nat Genet 20:278–280
Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S, Marcikiae M, Mika A, Mika B, Primorac D, Santachiara-Benerecetti AS, Cavalli-Sforza LL, Underhill PA (2000) The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 290:1155–1159
Serre D, Langaney A, Chech M, Teschler-Nicola M, Paunovic M, Mennecier P, Hofreiter M, Possnert G, Paabo S (2004) No evidence of Neandertal mtDNA contribution to early modern humans. PLOS Biol 2:0001–0005
Tenesa A, Wright AF, Knott SA, Carothers AD, Hayward C, Angius A, Persico I, Maestrale G, Hastie ND, Pirastu M, Visscher PM (2004) Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations. Hum Mol Genet 13:25–33
Vernesi C, Caramelli D, Dupanloup I, Bertorelle G, Lari M, Cappellini E, Moggi-Cecchi J, Chiarelli B, Castri L, Casoli A, Mallegni F, Lalueza-Fox C, Barbujani G (2004) The Etruscans: a population-genetic study. Am J Hum Genet 74:694–704
Webster GS (1996) A prehistory of Sardinia 2300–500 BC. Sheffield Academic Press, Sheffield
Acknowledgments
This paper was supported by funds from the Italian Ministry of the Universities (PRIN 2006) and by funds from the Universities of Ferrara and Florence. We thank Antonio Torroni for a thorough preliminary discussion of the results of this study, and three anonymous referees for several useful suggestions.
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Caramelli, D., Vernesi, C., Sanna, S. et al. Genetic variation in prehistoric Sardinia. Hum Genet 122, 327–336 (2007). https://doi.org/10.1007/s00439-007-0403-6
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DOI: https://doi.org/10.1007/s00439-007-0403-6