From surnames to the history of Y chromosomes: the Sardinian population as a paradigm

doi:doi:10.1038/sj.ejhg.5201040

European Journal of Human Genetics homepage

European Journal of Human Genetics (2003) 11, 802–807. doi:10.1038/sj.ejhg.5201040

From surnames to the history of Y chromosomes: the Sardinian population as a paradigm

Gianna Zei¹, Antonella Lisa¹, Ornella Fiorani¹, Chiara Magri², Lluis Quintana-Murci³, Ornella Semino² and A Silvana Santachiara-Benerecetti²

¹Istituto di Genetica Molecolare, CNR, Pavia, Italy
²Dipartimento di Genetica e Microbiologia 'A Buzzati-Traverso', Università di Pavia, Pavia, Italy
³Institut Pasteur, Paris, France

Correspondence: Dr G Zei, Istituto di Genetica Molecolare, CNR, Via Abbiategrasso 207, Pavia 27100, Italy. Tel: +39 0382 546359; Fax: +39 0382 422286; E-mail: zei@igm.cnr.it

Received 27 August 2002; Revised 7 April 2003; Accepted 15 April 2003.

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Abstract

A total of 202 Sardinian male subjects were examined for 13 biallelic stable markers, the complex 49a,f/TaqI system and three microsatellites of the Y chromosome in order to investigate, through surname analysis, on a possible territorial heterogeneity inside the island. The study of geographical distribution and linguistic derivation of Sardinian surnames allow us to discover their 'probable place of origin' and reconstruct ancient genetic isolates which borders are, today, no more recognizable. The molecular analysis revealed that about 90% of the Sardinian Y chromosomes fell into haplogroups E-M35, G-M201, I-M26, J-12f2 and R-M269. In contrast with the territorial homogeneity of these haplogroups, when the individuals were distributed according to their birthplace, a significant difference between the three historically and culturally distinct geographical areas into which Sardinia can be subdivided was observed when the individuals were distributed according to the ancestral location of surnames. In particular, the major contribution to this heterogeneity is due to the 'Sardinian-specific' haplogroup I-M26 (almost completely associated with the 49a,f-Ht12/12f2-10Kb/YCAIIa-21/YCAIIb-11 compound haplotype), which shows both a significantly higher incidence in the central-eastern (archaic) area and a significantly lower frequency in the northern area. The results of this study agree with the hypothesis that the ancestral homeland of this specific subset of haplogroup I is the mountainous central-eastern area of Sardinia, where the population underwent a long history of isolation since ancient times, and highlight the informative power of the surname analysis.