Monday, March 11, 2013

Italian DNA profiles- some small African elements detected

Uniparental Markers of Contemporary Italian Population: Reveals Details on Its Pre-Roman Heritage Brisighelli1, et al 2012.  PLoS ONE 7(12)

Brisighelli F, Álvarez-Iglesias V, Fondevila M, Blanco-Verea A, Carracedo Á, et al. (2012) Uniparental Markers of Contemporary Italian Population Reveals Details on Its Pre-Roman Heritage. PLoS ONE 7(12)


Italy has historically been a convenient destination for human populations migrating from Africa, the Middle East and European locations, in part due to the geomorphological characteristics of the Italian Peninsula [1].

Sardinia, Sicily and Tuscany were among the first Italian territories to be occupied by humans due to their strategic location and the presence in their territories of important metal resources [5].

The record of all the populations that inhabited the Italian territory during (pre)-history is incomplete; many records were of uncertain location and/or ambiguous denomination [6].

At the time of the Roman Empire, at least two non-Indo- European populations still inhabited Italy, namely, the Ligures, in the northwestern area, and the Etruscans with settlements located in areas far from the Etruria (Tuscany and High Latium), such as the Po Plain and the coast of Campania. At the same time, Sardinia experienced the flourishing of a non-Indo-European Nuragic civilization and, then, the Phoenician colonization.

Materials and Methods


A total of individuals were sampled from along the Italian Peninsulapresenting 12 different populations (Figure 1), of them (Ladin and Grecani Salentini) being linguistic isolatesd the Lucera being a historical enclave of Arabs/Berbers coming from North Africa. A brief description of these latter three populations is given .


The mtDNA haplogroup make-up of Italy as observed in our samples fits well with expectations in a typical European population. Thus, most of the Italian mtDNAs (,89%) could be attributed to European/African groups H (,40%), I (Ethiopian)(,3%), J (near East)(,9%), T(European) (,11%), U (European/African)(,20%; U minus U6), V(European) (,3%), X (African)(,2%) and W(Asian) (,1%); Figure 1. There are however important differences in haplogroup frequencies when examining them by main geographical

Mitochondrial DNA haplotypes of other African origin are mainly represented by haplogroups M1 (0.3%), U6 (0.8%) and L (1.2%); from here onwards, L will be used to refer to all mtDNA lineages, excluding the non-African branches N and M [60,61].

A total of 282 Y-chromosomes were analyzed for a set of Y-SNPs and were classified into 22 different haplogroups (Figure 3). Two haplogroups were not found, even though markers defining these clades were tested: N3 and R1a1. Five haplogroups represented 76.71% of the total chromosomes: R1b3, J2(near East), I(xI1b2), E3b1 and G. The frequencies averaged across populations were 26%, 21.2%, 10.2%, 9.9% and 9.2%, respectively. The remaining haplogroups sum to 23.2% in the total sample, and never above 4% in single population samples. 21.2%, 9.9% and 9.2%.(so `42% is either near East or African)

Autosomal ancestry in Italy

A panel of 52 AIMs was genotyped in 435 Italian individuals in order to estimate the proportion of ancestry from a three-way differentiation: sub-Saharan Africa, Europe and Asia. Structure analyses allowed us to infer membership proportions in population samples, and these proportions can be graphically displayed, as in Figure 2. This analysis indicated that Italians have a basal proportion of sub-Saharan ancestry that is higher (9.2%, on average) than other central or northern European populations (1.5%, on average). The amount of African ancestry in Italians is however more comparable to (but slightly higher than) the average in other Mediterranean countries (7.1%). Figure 2 shows in a triangle plot the relationships of Italians compared to other European, African and Asian populations

The North African historical legacy in South Italy

There are two mtDNA haplogroups, namely U6 and M1 that can be considered to be of North African origin and could therefore be used to signal the documented historical input of this African region into Lucera. In our full set of samples, we observed five U6 haplotypes belonging to sub-haplogroups U6a, U6a2, and U6a4. Only one of these haplotypes was observed in Lucera. However, the other three U6 haplotypes were observed in the vicinity of the population of South Apulia, and another at the tip of the Peninsula (Calabria). Regarding M1 haplotypes, we observed only two carriers in our samples sharing the same HVS-I haplotype; both were found in Trapani (West Sicily). Therefore, while South Italy shows evidence of having female introgression from North Africa, this African influence seems not to be particularly centered in the Lucera.

The sub-clade E3b1 (originating in eastern Africa) has a wide distribution in sub-Saharan Africa, Middle East and Europe. This haplogroup reaches a frequency of 8% in the North and Center and slightly higher in the South of Italy, 11% (Figure 1). It has also been argued that the European distribution of E3b1 is compatible with the Neolithic demic diffusion of agriculture [15]; thus, two sub-clades, E3b1a- M78 and E3b1c- M123 present a higher occurrence in Anatolia, the Balkans and the Italian peninsula. Another sub-clade, E3b1b-M81 is associated ith the Berber populations and is commonly found in regions that have had historical gene flow FROM Northern Africa, such as the Iberian peninsula [74,75]–[76–78], including the Canary Islands [75], and Sicily [70,79]; the absence of microsatellite variation suggests a very recent arrival from North Africa [80]. If we assume that all E3b1 represents the only Y-chromosome continental African contribution to Italy and L and U6 lineages the continental African mtDNA component, the African component in Italy is higher for the Y-chromosome (8–11%) than for mtDNA (1–2%).

The origin of sub-Saharan African mtDNAs in Europe (including Italian samples) has been recently investigated by Cerezo et al. [81]; the results indicate that a significant proportion of these lineages could have arrived in Italy more than 10,000 years ago; therefore, their presence in Europe does not necessarily date to the time of the Roman Empire, the Atlantic slave trade or to modern migration. In addition, the Northern African influence in the Italian Peninsula is evidenced by the presence of Northern African Y chromosome haplogroups (E1-M78) in three geographically close samples across the southern Apennine mountains: East Campania

Finally, in agreement with uniparental markers, analysis of AIMs/SNPs as carried out in the present study indicated that Italy shows a very minor sub-Saharan African component that is, however, slightly higher than non-Mediterranean Europe. This agrees with the recent findings of Cerezo et al. [82] based on the analysis of entire mtDNA genomes pointing to the arrival in ancient and historical times of sub-Saharan African people to the Mediterranean Europe, followed by admixture. THE PRESENT STUDY REPRESENTS THE LARGEST META-ANALYSIS CARRIED OUT TO DATE FOR THE ITALIAN PENINSULA.(DEC2012)

It is difficult to infer what proportion of these differences can be attributed not only exclusively to gender demographic differences, but also to the fact that both markers were analyzed to different levels of molecular resolution. Italy shows clines of variation attributable to the demographic movements of the first Paleolithic settlements, posteriorly modeled by the Mesolithic and, to a lesser.

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