Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genetic factors for most melanoma-prone families remain unknown. Using whole-exome sequencing, we identified a rare variant that arose as a founder mutation in the telomere shelterin gene POT1 (chromosome 7, g.124493086C>T; p.Ser270Asn) in five unrelated melanoma-prone families from Romagna, Italy. Carriers of this variant had increased telomere lengths and numbers of fragile telomeres, suggesting that this variant perturbs telomere maintenance. Two additional rare POT1 variants were identified in all cases sequenced in two separate Italian families, one variant per family, yielding a frequency for POT1 variants comparable to that for CDKN2A mutations in this population. These variants were not found in public databases or in 2,038 genotyped Italian controls. We also identified two rare recurrent POT1 variants in US and French familial melanoma cases. Our findings suggest that POT1 is a major susceptibility gene for familial melanoma in several populations

The Marine-Derived Filamentous Fungi in Biotechnology

For a long time considered as essentially terrestrial organisms, filamentous fungi have recently disclosed to be widespread in marine habitats. Such a pervasiveness not only concerns obligate marine species but also a multitude of taxa known from disparate terrestrial substrates whose occurrence at sea, at first considered incidental, is now regarded as an evidence of extreme ecological flexibility. Actually, the peculiar physico-chemical properties of the marine environment are presumed to have induced special physiological adaptations that could be considered in view of a possible biotechnological exploitation of fungal strains recovered from marine sources. The potential of filamentous fungi reported from marine contexts for the manifold applications in biotechnology involving microbial strains is revised in this chapter