Figure 1.
Admixture map for ancestral populations (k) = 6.
Each vertical line represents an individual from the corresponding population. Different colors indicate the ancestry proportions. The samples inside the black square correspond to the samples analyzed in this work. D: most pigmented individuals from our samples, L: least pigmented individuals from our sample.
Figure 2.
SNPs found in the resequencing of SLC45A2.
We show the location of the 3 SNPs found in the coding region of the gene: rs16891982, rs2287949 and rs26722, plus the most frequent SNP in intron 5: rs35397.
Table 1.
Frequency of 374F (rs16891982) and the A allele (intronic rs35397) in a) the most pigmented (Dark) and least pigmented (Light) individuals of the skin reflectance distribution from our study and in b) the populations from 1KGP.
Figure 3.
Frequency of 374F in Spain according to the intensity of annual UV irradiation.
A colored map showing the frequency of 374F per UV intensity range and the correlation equations between UV intensity and frequency of 374F. UV ranges (J/m2) include: 23500–25500; 25501–27500; 27501–29500; 29501–31500; 31501–34500; and 43300. The green line corresponds to the correlation equation obtained when the Canary Islands were included. The red line corresponds to the correlation equation after excluding the Canary Islands.
Table 2.
Diversity parameters and selection test for the coding region and intron 5 of SLC45A2 gene.
Figure 4.
EHH analysis of the 1KGP South European samples.
Simulated EHH values for the 374F haplotype using the demographic model of Gutenkunst et al. (2009). Shades of blue correspond to a smoothed color density representation of the scatter plot of all EHH simulations for each region. Blue darkness is proportional to the density of points in that vicinity. The continuous blue line corresponds to the 95th percentile of the distribution. Purple dots correspond to the observed values from the 1KGP data for South Europeans.
Figure 5.
Estimation of selection coefficient (s) of allele 314F using the haplotipic data of 82 unrelated CEU individuals from the 1KGP.
The highest likelihood was obtained for s = 0.0127 (95% CI, 0.0106–0.0148).
Figure 6.
Estimation of selection coefficient (s) of allele 314F using the haplotipic data of 60 unrelated CEU individuals from the HapMap.
The highest likelihood was obtained for s = 0.0243 (95% CI, 0.0111–0.0375).
Table 3.
Genotypic frequencies for melanoma samples and controls.