Figure 3 : Autosomal and Y-chromosome evidence of the Iceman's origin.

From: New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

Figure 3

(a) Principal component analysis (PCA) of the Iceman genome and SNP array data for European, North African and Near Eastern populations. Population samples were as follows: Europe S (for example, Italy), Europe SW (Spain/Portugal), Europe W (for example, France), Europe C (for example, Germany), Europe NW (for example, UK), Europe NNE (for example, Sweden), Europe SE (for example, Greece), Europe ESE (Cyprus/Turkey), North Africa (Algeria, Libya, Egypt, Morocco, Sahara and Tunisia) and Near East (Qatar). PCA was performed using 123,425 SNPs. (b) PCA projecting the Iceman into genetic clusters within Europe. PCA was performed using 132,981 SNPs after intersecting the Iceman genome with 1,387 European samples from the PopRes dataset. Samples clustering close to the Iceman were of Sardinian origin. (c) The phylogenetic relationship of Y-chromosome haplogroup G2a4 within haplogroup G was constructed using markers ascertained in the Iceman as listed in Supplementary Table S7. Unboxed and boxed marker labels indicate observed ancestral and derived allele status, respectively. (d) Spatial frequency distribution of G2a4-L91 chromosomes in Europe. Appropriate sample locations of 7,797 individuals from 30 populations are indicated with red dots. (e) Spatial distribution of L91 frequency in various regions of Corsica and Sardinia. Marker L91 was genotyped by HaeIII RFLP analysis, which identifies a G to C transversion at position 250 within the 447-bp PCR fragment amplified using primers (F) 5′-ctttgccattcatgcaaagg-3′and (R) 5′-gtgagagtgctcagccagtc-3′. The frequency data were converted to spatial-frequency maps using Surfer software (version 7, Golden Software, Inc.), following the Kriging procedure. (f) PCA of the Iceman genome combined with SNP array data for 1,387 European samples from PopRes and 28 Sardinians from HGDP. PCA was performed using 28,003 SNPs.