Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

Scozzari, Rosaria; Cruciani, Fulvio; Pangrazio, Alessandra; Santolamazza, P.; Vona, Giuseppe; Moral, Pedro; Latini, Veronica; Varesi, Laurent; Memmì, Marc; Romano, Valentino; Leo, Giacomo De; Gennarelli, Massimo; Jaruzelska, Jadwiga; Villems, Richard; Parik, Jüri; Macaulay, Vincent; Torroni, Antonio

doi:10.1016/s0198-8859(01)00286-5

Cited by 80 publications

(69 citation statements)

References 41 publications

(83 reference statements)

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“…On the other hand, I chromosomes reached their highest frequencies in Andalusia and Eastern Iberia (Figure 1d), although Hg I1b2 reached a frequency in Castile comparable to that reported for Sardinia, which is the highest in Europe. 10,28,40 Since STR information for the Catalonian sample is available 26 and DYS388X15 repeat alleles can be used as a proxy for J background, 41 we estimated 6.2% of J chromosomes in this sample. Taking this value, or the 4.2% previously reported for an independent sample, 10 as an approximate frequency of these Hg's in Catalonia, J chromosomes show a trend of decreasing frequencies in Mediterranean coastal populations, from 17.9 to 11% in Andalusia, 9.7% in Valencia, to the lowest frequency in Catalonia (Figure 1e), although with nonsignificant differences between the two extremes (P ¼ 0.193, Fisher's exact test).…”

Section: Resultsmentioning

confidence: 99%

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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Section: Resultsmentioning

confidence: 99%

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

et al. 2004

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“…[25][26][27][28][41][42][43][44][45] Differences between the two examined sub-populations are also reflected in their LD decay patterns, with Ogliastra showing higher LD values at any distance. This result agrees perfectly with the strong isolation levels reported for Ogliastra, meaning that in this population linkage blocks are averagely longer than those from Southern Sardinia.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection

Piras

Montis²,

Calò

et al. 2012

Eur J Hum Genet

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This paper explores the genetic structure and signatures of natural selection in different sub-populations from the Island of Sardinia, exploiting information from nearly 700 000 autosomal SNPs genotyped with the Affymetrix Genome-Wide Human SNP 6.0 Array. The genetic structure of the Sardinian population and its position within the context of other Mediterranean and European human groups were investigated in depth by comparing our data with publicly available data sets. Principal components and admixture analyses suggest a clustering of the examined samples in two significantly differentiated sub-populations (Ogliastra and Southern Sardinia), as confirmed by AMOVA (F ST ¼ 0.011; Po0.001). Differentiation of these sub-populations was still evident when they were pooled together with supplementary Sardinian samples from HGDP and compared with several other European, North-African and Near Eastern populations, confirming the uniqueness of the Sardinian genetic background. Moreover, by applying several statistical approaches aimed at assessing differences at the SNP level, the highest differentiated genomic regions between Ogliastra and Southern Sardinia were thus investigated via an extended haplotype homozygosity (EHH)-based test to point out potential selective sweeps. Using this approach, 40 genomic regions were detected, with significant differences between Ogliastra and Southern Sardinia. These regions were subsequently investigated using a long-range haplotype test, which found significant REHH values for SNPs rs11070188 and rs11070192 in the Ogliastra sub-population. In the light of these results and the overlap of the different computed statistics, the region encompassing these loci can be considered a strong candidate to have undergone selective pressure in Ogliastra.

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“…Our results show a significant impact of founder effect in the Central Corsican population, which is genetically, demographically, and geographically isolated. These results were carried out using classical genetic markers [23,26,27], mtDNA [50,51], Y-chromosome [52,53], and b-globin haplotypes [54]. By studying the b-globin gene haplotypes in the Corsican population, some conclusions may be reached: (1) The b-globin cluster, showed a significant correlation between the b 0 -39 mutation and the haplotype II.…”

Section: Discussionmentioning

confidence: 99%

?-globin gene cluster haplotypes associated with ?-thalassemia on Corsica island

Falchi¹,

Giovannoni²,

Vacca³

et al. 2004

Am. J. Hematol.

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In the Corsican population, the incidence of b-thalassemia traits is reported to be 3.1%. We have investigated the 2 more important b-thalassemia mutations present in the Corsican population: b 0 -39 and b + IVS1-110. Seven polymorphic sites in the b-globin gene cluster were analyzed from a sample of 43 non-related b-thalassemia heterozygotes and of 47 nonrelated healthy individuals, from Central Corsica (Corte). Among the 43 Corsican patients analyzed, the nonsense codon is predominant (88.40%), whereas the b + IVS1-110 mutation, the most common of b-thalassemia in the eastern part of the Mediterranean basin, is underrepresented (2.33%). The other individuals did not show positive for the two tested mutations (9.27%). The b 0 -39 mutation in the studied population shows a strong association with haplotype II (18.7%) and a weaker association with haplotypes I (2.3%) and VII (2.1%). The strong association of the b 0 -39 mutation with haplotype II was also found in Sardinia, suggesting that the mutation on the two islands have the same origin. In the present study all the data concerning frequencies of the mutations and of sequence haplotypes, support the hypothesis of a western Mediterranean origin of the b 0 -39 mutation. For the first time, this paper analyzes the association of b-globin gene cluster haplotypes with the 2 more frequent b-thalassemia mutations in an isolated population in the centre of Corsica (Corte), which presents certain genetic peculiarities. However, the analysis of b-haplotypes will be very useful for the genetic epidemiological study in this region. Am.

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Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

Cited by 80 publications

References 41 publications

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

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

Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection

?-globin gene cluster haplotypes associated with ?-thalassemia on Corsica island

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