The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population

We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques from the North of Spain) and by resequencing the whole coding region and intron 5 of the 34 most and the 34 least pigmented individuals according to the reflectance distribution, we observed that the polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In particular, allele 374F was significantly more frequent among the individuals with lighter skin. Further genotyping an independent set of 558 individuals of a geographically wider population with known ancestry in the Spanish population also revealed that the frequency of L374F was significantly correlated with the incident UV radiation intensity. Selection tests suggest that allele 374F is being positively selected in South Europeans, thus indicating that depigmentation is an adaptive process. Interestingly, by genotyping 119 melanoma samples, we show that this variant is also associated with an increased susceptibility to melanoma in our populations. The ultimate driving force for this adaptation is unknown, but it is compatible with the vitamin D hypothesis. This shows that molecular evolution analysis can be used as a useful technology to predict phenotypic and biomedical consequences in humans.

Deep learning review and its applications

Deep neural networks have recently gained popularity for improv- ing state-of-the-art machine learning algorithms in diverse areas such as speech recognition, computer vision and bioinformatics. Convolutional networks especially have shown prowess in visual recognition tasks such as object recognition and detection in which this work is focused on. Mod- ern award-winning architectures have systematically surpassed previous attempts at tackling computer vision problems and keep winning most current competitions. After a brief study of deep learning architectures and readily available frameworks and libraries, the LeNet handwriting digit recognition network study case is developed, and lastly a deep learn- ing network for playing simple videogames is reviewed.