Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage
BACKGROUND: According to archaeological records and historical documentation, Italy has been a melting point for populations of different geographical and ethnic matrices. Although Italy has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed c...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
Public Library of Science
2012
|
| _version_ | 1797103787769331712 |
|---|---|
| author | Brisighelli, F Álvarez-Iglesias, V Fondevila, M Blanco-Verea, A Carracedo, A Pascali, V Capelli, C Salas, A |
| author_facet | Brisighelli, F Álvarez-Iglesias, V Fondevila, M Blanco-Verea, A Carracedo, A Pascali, V Capelli, C Salas, A |
| author_sort | Brisighelli, F |
| collection | OXFORD |
| description | BACKGROUND: According to archaeological records and historical documentation, Italy has been a melting point for populations of different geographical and ethnic matrices. Although Italy has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental and autosomal markers throughout the country. METHODS/PRINCIPAL FINDINGS: A total of 583 individuals were sampled from across the Italian Peninsula, from ten distant (if homogeneous by language) ethnic communities--and from two linguistic isolates (Ladins, Grecani Salentini). All samples were first typed for the mitochondrial DNA (mtDNA) control region and selected coding region SNPs (mtSNPs). This data was 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 informative markers (AIMs) from 441 samples. The resulting genetic record reveals clines of genetic frequencies laid according to the latitude slant along continental Italy--probably generated by demographical events dating back to the Neolithic. The Ladins showed distinctive, if more recent structure. The Neolithic contribution was estimated for the Y-chromosome as 14.5% and for mtDNA as 10.5%. Y-chromosome data showed larger differentiation between North, Center and South than mtDNA. AIMs detected a minor sub-Saharan component; this is however higher than for other European non-Mediterranean populations. 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 some heterogeneity exists based on different analysis and molecular markers. From North to South, Italy shows clinal patterns that were most likely modulated during Neolithic times. |
| first_indexed | 2024-03-07T06:24:55Z |
| format | Journal article |
| id | oxford-uuid:f3f38b4d-4a29-4de3-8571-2839b420a701 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T06:24:55Z |
| publishDate | 2012 |
| publisher | Public Library of Science |
| record_format | dspace |
| spelling | oxford-uuid:f3f38b4d-4a29-4de3-8571-2839b420a7012022-03-27T12:16:03ZUniparental markers of contemporary Italian population reveals details on its pre-Roman heritageJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:f3f38b4d-4a29-4de3-8571-2839b420a701EnglishSymplectic Elements at OxfordPublic Library of Science2012Brisighelli, FÁlvarez-Iglesias, VFondevila, MBlanco-Verea, ACarracedo, APascali, VCapelli, CSalas, A BACKGROUND: According to archaeological records and historical documentation, Italy has been a melting point for populations of different geographical and ethnic matrices. Although Italy has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental and autosomal markers throughout the country. METHODS/PRINCIPAL FINDINGS: A total of 583 individuals were sampled from across the Italian Peninsula, from ten distant (if homogeneous by language) ethnic communities--and from two linguistic isolates (Ladins, Grecani Salentini). All samples were first typed for the mitochondrial DNA (mtDNA) control region and selected coding region SNPs (mtSNPs). This data was 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 informative markers (AIMs) from 441 samples. The resulting genetic record reveals clines of genetic frequencies laid according to the latitude slant along continental Italy--probably generated by demographical events dating back to the Neolithic. The Ladins showed distinctive, if more recent structure. The Neolithic contribution was estimated for the Y-chromosome as 14.5% and for mtDNA as 10.5%. Y-chromosome data showed larger differentiation between North, Center and South than mtDNA. AIMs detected a minor sub-Saharan component; this is however higher than for other European non-Mediterranean populations. 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 some heterogeneity exists based on different analysis and molecular markers. From North to South, Italy shows clinal patterns that were most likely modulated during Neolithic times. |
| spellingShingle | Brisighelli, F Álvarez-Iglesias, V Fondevila, M Blanco-Verea, A Carracedo, A Pascali, V Capelli, C Salas, A Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage |
| title | Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage |
| title_full | Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage |
| title_fullStr | Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage |
| title_full_unstemmed | Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage |
| title_short | Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage |
| title_sort | uniparental markers of contemporary italian population reveals details on its pre roman heritage |
| work_keys_str_mv | AT brisighellif uniparentalmarkersofcontemporaryitalianpopulationrevealsdetailsonitspreromanheritage AT alvareziglesiasv uniparentalmarkersofcontemporaryitalianpopulationrevealsdetailsonitspreromanheritage AT fondevilam uniparentalmarkersofcontemporaryitalianpopulationrevealsdetailsonitspreromanheritage AT blancovereaa uniparentalmarkersofcontemporaryitalianpopulationrevealsdetailsonitspreromanheritage AT carracedoa uniparentalmarkersofcontemporaryitalianpopulationrevealsdetailsonitspreromanheritage AT pascaliv uniparentalmarkersofcontemporaryitalianpopulationrevealsdetailsonitspreromanheritage AT capellic uniparentalmarkersofcontemporaryitalianpopulationrevealsdetailsonitspreromanheritage AT salasa uniparentalmarkersofcontemporaryitalianpopulationrevealsdetailsonitspreromanheritage |