From surnames to the history of Y chromosomes: the Sardinian population as a paradigm

Zei, Gianna; Lisa, Antonella; Fiorani, Ornella; Magri, Chiara; Quintana-Murci, Lluı́s; Semino, Ornella; Santachiara‐Benerecetti, A. Silvana

doi:10.1038/sj.ejhg.5201040

Cited by 48 publications

(43 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…1 is characterized by the short 11-repeat allele at the DYS19 locus, which is most likely generated by a multiple-repeat deletion event. Similar associations between sub-networks defined by microsatellite short alleles and UEP-defined haplogroups were also recognized in previous studies (Zei et al, 2003;Di Giacomo et al, 2004). Finally, the use of a very large set of simple microsatellites (Kayser et al, 2004), could help to define clusters of closely related chromosomes sharing a common origin (Xue et al, 2005).…”

Section: Congruence Between Microsatellite Clusters and Haplogroups/psupporting

confidence: 78%

Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers

et al. 2006

View full text Add to dashboard Cite

The human Y chromosome haplogroup E-M78 (E3b1a) occurs commonly and is distributed in northern and eastern Africa, western Asia, and all of Europe. Previously, only two rarely observed internal biallelic markers (UEPs) were known within the E-M78 clade. Here we report the identification of six novel UEPs that significantly refine the phylogeny of this haplogroup. Then, we evaluate the correspondence between the newly defined subhaplogroups and the E-M78 haplotype clusters previously identified by an 11-microsatellite loci-based network encompassing 232 chromosomes (Cruciani et al., 2004). We observed considerable correspondence between the trees generated by the two types of markers, but also noted important discrepancies between microsatellite and UEP findings. Overall, this analysis reveals that the currently visible terminal branches of the Y tree still contain a large amount of information, in terms of undiscovered biallelic markers, and that caution is needed when using the microsatellite alleles as surrogates of unique event polymorphisms.

show abstract

Section: Congruence Between Microsatellite Clusters and Haplogroups/psupporting

confidence: 78%

Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers

et al. 2006

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

“…[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

View full text Add to dashboard Cite

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.

show abstract

From surnames to the history of Y chromosomes: the Sardinian population as a paradigm

Cited by 48 publications

References 27 publications

Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers

Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers

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

Contact Info

Product

Resources

About