Send to

Choose Destination
Int J Mol Sci. 2019 Nov 16;20(22). pii: E5763. doi: 10.3390/ijms20225763.

Y-chromosome and Surname Analyses for Reconstructing Past Population Structures: The Sardinian Population as a Test Case.

Author information

Dipartimento di Biologia e Biotecnologie "L. Spallanzani", Università di Pavia, 27100 Pavia, Italy.
Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), 09042 Monserrato, Italy.
Estonian Biocentre, Institute of Genomics, Riia 23, 51010 Tartu, Estonia.
Department of Evolutionary Biology, Institute of Molecular and Cell Biology, Riia 23, 51010 Tartu, Estonia.
Dipartimento di Scienze Biomediche, Università di Sassari, 07100 Sassari, Italy.
Istituto di Genetica Molecolare "L.L. Cavalli-Sforza", Consiglio Nazionale delle Ricerche (CNR), 27100 Pavia, Italy.
Dipartimento di Scienza della Vita e dell'Ambiente, Università di Cagliari, 09123 Cagliari, Italy.
Dipartimento di Scienze Mediche, Scuola di Medicina, Università di Torino, 10124 Torino, Italy.


Many anthropological, linguistic, genetic and genomic analyses have been carried out to evaluate the potential impact that evolutionary forces had in shaping the present-day Sardinian gene pool, the main outlier in the genetic landscape of Europe. However, due to the homogenizing effect of internal movements, which have intensified over the past fifty years, only partial information has been obtained about the main demographic events. To overcome this limitation, we analyzed the male-specific region of the Y chromosome in three population samples obtained by reallocating a large number of Sardinian subjects to the place of origin of their monophyletic surnames, which are paternally transmitted through generations in most of the populations, much like the Y chromosome. Three Y-chromosome founding lineages, G2-L91, I2-M26 and R1b-V88, were identified as strongly contributing to the definition of the outlying position of Sardinians in the European genetic context and marking a significant differentiation within the island. The present distribution of these lineages does not always mirror that detected in ancient DNAs. Our results show that the analysis of the Y-chromosome gene pool coupled with a sampling method based on the origin of the family name, is an efficient approach to unravelling past heterogeneity, often hidden by recent movements, in the gene pool of modern populations. Furthermore, the reconstruction and comparison of past genetic isolates represent a starting point to better assess the genetic information deriving from the increasing number of available ancient DNA samples.


Human Y-chromosome variation; family name origin; haplogroups; migrations; peopling of Sardinia; phylogenetics

Free PMC Article

Supplemental Content

Full text links

Icon for Multidisciplinary Digital Publishing Institute (MDPI) Icon for PubMed Central
Loading ...
Support Center