15 research outputs found

    Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes

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    <div><p></p><p><i>Background</i>: Copy Number Variants (CNVs) contribute to a large fraction of genetic diversity and some of them have been reported to offer an evolutionary advantage.</p><p><i>Aim</i>: To identify CNVs in pigmentary loci that could contribute to human skin pigmentation diversity.</p><p><i>Subjects and methods</i>: This study assessed the existence of CNVs in every exon of candidate genes: <i>TYR, TYRP1, DCT, MC1R</i> and <i>SLC24A5</i>, using the Multiplex Amplifiable Probe Hybridization technique (MAPH). This study analysed a total of 99 DNA samples of unrelated individuals from different populations. Validation and further analysis in a larger Spanish sample were performed by RT-qPCR.</p><p><i>Results</i>: Five CNVs were identified by MAPH: <i>DCT</i> exons 4 and 8, <i>TYR</i> exon 1 and <i>SLC24A5</i> exons 1 and 4. Real-time quantitative PCR (RT-qPCR) confirmed the CNV in exon 1 of <i>SLC24A5</i>. This study further analysed the 5â€Č promoter region of <i>SLC24A5</i> and found another CNV in this region. However, no association was found between the CNV and the degree of pigmentation.</p><p><i>Conclusion</i>: Although the functional role of these structural variants in pigmentation should be the subject of future work, the results emphasize the need to consider all classes of variation (both SNPs and CNVs) when exploring the genetics of skin pigmentation.</p></div

    Principal Component Analysis.

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    <p>Charts a) and b) show the same 2-dimesional representation of the data according to the first 2 principal components, but colored according to different variables. Thus, in a) the effects of time (Squares: Time = 0; Dots: Time = 6 hours; Triangles: Time = 12 hours; Diamonds: Time = 24 hours) and pigmentation (Yellow = Light melanocytes; Brown = Dark melanocytes) are highlighted, while in b), it is the time (Squares: Time = 0; Dots: Time = 6 hours; Triangles: Time = 12 hours; Diamonds: Time = 24 hours) and the type of KCM used which are highlighted (Green: KCM-; Red: KCM+).</p

    Frequency of 374F in Spain according to the intensity of annual UV irradiation.

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    <p>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/m<sup>2</sup>) 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.</p
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