RT Journal Article
T1 Uniparental markers of contemporary italian population reveals details on its pre-roman heritage
A1 Brisighelli, Francesca
A1 Álvarez Iglesias, Vanesa
A1 Fondevila Álvarez, Manuel
A1 Blanco Verea, Alejandro José
A1 Carracedo Álvarez, Ángel
A1 Pascali, Vincenzo L.
A1 Capelli, Cristian
A1 Salas Ellacuriaga, Antonio
AB Background:According to archaeological records and historical documentation, Italy has been a melting point forpopulations of different geographical and ethnic matrices. Although Italy has been a favorite subject for numerouspopulation genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental andautosomal markers throughout the country.Methods/Principal Findings:A total of 583 individuals were sampled from across the Italian Peninsula, from ten distant (ifhomogeneous by language) ethnic communities — and from two linguistic isolates (Ladins, Grecani Salentini). All sampleswere first typed for the mitochondrial DNA (mtDNA) control region and selected coding region SNPs (mtSNPs). This datawas pooled for analysis with 3,778 mtDNA control-region profiles collected from the literature. Secondly, a set of Y-chromosome SNPs and STRs were also analyzed in 479 individuals together with a panel of autosomal ancestry informativemarkers (AIMs) from 441 samples. The resulting genetic record reveals clines of genetic frequencies laid according to thelatitude slant along continental Italy – probably generated by demographical events dating back to the Neolithic. TheLadins showed distinctive, if more recent structure. The Neolithic contribution was estimated for the Y-chromosome as14.5% and for mtDNA as 10.5%. Y-chromosome data showed larger differentiation between North, Center and South thanmtDNA. AIMs detected a minor sub-Saharan component; this is however higher than for other European non-Mediterraneanpopulations. The same signal of sub-Saharan heritage was also evident in uniparental markers.Conclusions/Significance:Italy shows patterns of molecular variation mirroring other European countries, although someheterogeneity exists based on different analysis and molecular markers. From North to South, Italy shows clinal patterns thatwere most likely modulated during Neolithic times.
PB PLOS
YR 2012
FD 2012
LK http://hdl.handle.net/10347/21821
UL http://hdl.handle.net/10347/21821
LA eng
NO Brisighelli F, Alvarez-Iglesias V, Fondevila M, Blanco-Verea A, Carracedo A. , et al. (2012) Uniparental Markers of Contemporary Italian Population RevealsDetails on Its Pre-Roman Heritage. PLoS ONE 7(12): e50794. doi:10.1371/journal.pone.0050794
NO The research leading to these results has received funding from the People Programme (Marie Curie Actions) of the European Union's Seventh Framework Programme FP7/2007–2013/under REA grant agreement number 290344, and the Ministerio de Ciencia e Innovación (SAF2008-02971 and SAF2011-26983)(AS). CC and FB were partially funded by the British Academy for the project “The Greeks in the West: the genetic legacy of the colonisation in South Italy and Sicily”
DS Minerva
RD 29 abr 2026