Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects

Giacomo, Fabio Di; Luca, Francesca; Anagnou, Nicholas P.; Ciavarella, G.; Corbo, Rosa Maria; Cresta, M.; Cucci, F.; Stasi, L. Di; Agostiano, V.; Giparaki, M.; Loutradis, Aphrodite; Mammì, Corrado; Michalodimitrakis, Emmanuel; Papola, F.; Pedicini, G.; Plata, Eimy Rivas; Terrenato, L.; Tofanelli, Sergio; Malaspina, Patrizia; Novelletto, Andrea

doi:10.1016/s1055-7903(03)00016-2

Cited by 57 publications

(62 citation statements)

References 31 publications

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“…The almost complete absence of population substructure detected for RM Y-STR loci, previously observed at a global level [6], was confirmed within a single geographic region, like Italy, for which clinal patterns of Y chromosomal variation had been extensively documented [7,16,17]. This property of RM Y-STRs reduces the need for regional (metapopulation) reference databases for haplotype frequency estimation compared to standard Y-STR sets.…”

Section: Discussionsupporting

confidence: 66%

“…Due to its central position in the Mediterranean sea, Italy has historically been a convenient destination for human populations migrating from Africa, the Middle East and European locations; this, along with its varied and rugged geomorphological characteristics, have contributed to shape a complex mosaic of genetic variation. On the Y-chromosomal perspective, though a North-South major cline across the Italian Peninsula was described, local drift and founder effect had been signalled as the main explanation for the observed distribution of genetic diversity [7].…”

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confidence: 99%

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Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

Robino

Ralf

Pasino

et al. 2015

Forensic Science International: Genetics

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Section: Discussionsupporting

confidence: 66%

mentioning

confidence: 99%

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

Robino

Ralf

Pasino

et al. 2015

Forensic Science International: Genetics

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“…These results are also in accordance with the different patterns found for the Y-chromosome haplogroup distribution in continental Europe compared with the Mediterranean peninsulas, with smooth clines and gradients apparent in continental areas (Rosser et al, 2000;Semino et al, 2000) contrasting to the focal expansions detected in Iberia (Flores et al, 2004), Italy and Greece (Di Giacomo et al, 2003).…”

Section: Discussionsupporting

confidence: 89%

Using mitochondrial DNA to test the hypothesis of a European post-glacial human recolonization from the Franco-Cantabrian refuge

Garcı́a¹,

Fregel

Larruga

et al. 2010

Heredity

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It has been proposed that the distribution patterns and coalescence ages found in Europeans for mitochondrial DNA (mtDNA) haplogroups V, H1 and H3 are the result of a post-glacial expansion from a Franco-Cantabrian refuge that recolonized central and northern areas. In contrast, in this refined mtDNA study of the Cantabrian Cornice that contributes 413 partial and 9 complete new mtDNA sequences, including a large Basque sample and a sample of Asturians, no experimental evidence was found to support the human refuge-expansion theory. In fact, all measures of gene diversity point to the Cantabrian Cornice in general and the Basques in particular, as less polymorphic for V, H1 and H3 than other southern regions in Iberia or in Central Europe. Genetic distances show the Cantabrian Cornice is a very heterogeneous region with significant local differences. The analysis of several minor subhaplogroups, based on complete sequences, also suggests different focal expansions over a local and peninsular range that did not affect continental Europe. Furthermore, all detected clinal trends show stronger longitudinal than latitudinal profiles. In Northern Iberia, it seems that the highest diversity values for some haplogroups with Mesolithic coalescence ages are centred on the Mediterranean side, including Catalonia and South-eastern France.

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“…A more thorough sampling in these areas, especially in Basque Country where some heterogeneity among districts have been detected, 43 could shed some light to this differentiation pattern. Recent findings in Italy and Greece 44 support that Y-chromosome heterogeneity in such local regions are organized on focal rather than clinal distributions as deduced from studies on larger spatial scales.…”

Section: Resultsmentioning

confidence: 56%

Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography

et al. 2004

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Europe has been influenced by both intra-and intercontinental migrations. Since the Iberian peninsula was a refuge during the Last Glacial Maximum, demographic factors associated with contraction, isolation, subsequent expansion and gene flow episodes have contributed complexity to its population history. In this work, we analysed 26 Y-chromosome biallelic markers in 568 chromosomes from 11 different Iberian population groups and compared them to published data on the Basques and Catalans to gain insight into the paternal gene pool of these populations and find out to what extent major demographic processes account for their genetic structure. Our results reveal a reduced, although geographically correlated, Y-chromosomal interpopulation variance (1.2%), which points to a limited heterogeneity in the region. Coincidentally, spatial analysis of genetic distances points to a focal distribution of Y-chromosome haplogroups in this area. These results indicate that neither old or recent Levantine expansions nor North African contacts have influenced the current Iberian Y-chromosome diversity so that geographical patterns can be identified.

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Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects

Cited by 57 publications

References 31 publications

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

Using mitochondrial DNA to test the hypothesis of a European post-glacial human recolonization from the Franco-Cantabrian refuge

Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography

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