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MBE Advance Access published online on August 10, 2006
Molecular Biology and Evolution, doi:10.1093/molbev/msl084
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© The Author 2006. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org
Accepted July 31, 2006

Research Article

High Resolution Analysis and Phylogenetic Network Construction Using Complete mtDNA Sequences in Sardinian Genetic Isolates

Cristina Fraumene 1, Elise M. S. Belle 2, Loredana Castrì 3, Simona Sanna 4, Gianmaria Mancosu 1, Massimiliano Cosso 1, Francesca Marras 1, Guido Barbujani 2, Mario Pirastu 5, and Andrea Angius 5 *

1 Shardna Life Sciences, Pula (Cagliari), Italy
2 Dipartimento di Biologia, Università di Ferrara, Ferrara, Italy
3 Dipartimento di Biologia Evoluzionistica e Sperimentale - Sezione di Antropologia, Università di Bologna
4 Istituto di Genetica delle Popolazioni, CNR, Alghero (Sassari) Italy
5 Shardna Life Sciences, Pula (Cagliari), Italy; Istituto di Genetica delle Popolazioni, CNR, Alghero (Sassari) Italy

* To whom correspondence should be addressed.
Andrea Angius, E-mail: angius{at}shardna.it


  Abstract

For mitochondrial phylogenetic analysis, the best result comes from complete sequences. We therefore decided to sequenced the entire mtDNA (coding and D-loop regions) of 63 individuals selected in three small Ogliastra villages, an isolated area of eastern Sardinia: Talana, Urzulei and Perdasdefogu. We studied at least one individual for each of the most frequent maternal genealogical lineages belonging to haplogroups H, V, J, K, T, U and X. We found in our 63 samples, 172 and 69 sequence changes in the coding and in the D-loop region respectively. Thirteen out of 172 sequence changes in the coding region are novel. It is our hypothesis that some of them are characteristic of the Ogliastra region and/or Sardinia.

We reconstructed the phylogenetic network of the 63 complete mtDNA sequences for the three villages. We also drew a network including a large number of European sequences and calculated various indices of genetic diversity in Ogliastra. It appears that these small populations remained extremely isolated and genetically differentiated compared to other European populations. We also identified in our samples a never previously described subhaplogroup, U5b3, that seems peculiar to the Ogliastra region.

Keywords: complete mtDNA sequences; genetic isolates; phylogenetic network; subhaplogroup; genetic drift; founder effect.
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