Papers by daniela scocchia
BMC cancer, Feb 22, 2017
Knowledge of the genotype of melanoma is important to guide patient management. Identification of... more Knowledge of the genotype of melanoma is important to guide patient management. Identification of mutations in BRAF and c-KIT lead directly to targeted treatment, but it is also helpful to know if there are driver oncogene mutations in NRAS, GNAQ or GNA11 as these patients may benefit from alternative strategies such as immunotherapy. While polymerase chain reaction (PCR) methods are often used to detect BRAF mutations, next generation sequencing (NGS) is able to determine all of the necessary information on several genes at once, with potential advantages in turnaround time. We describe here an Ampliseq hotspot panel for melanoma for use with the IonTorrent Personal Genome Machine (PGM) which covers the mutations currently of most clinical interest. We have validated this in 151 cases of skin and uveal melanoma from our files, and correlated the data with PCR based assessment of BRAF status. There was excellent agreement, with few discrepancies, though NGS does have greater coverag...
The post-mating response induced by male-derived sex-peptide in Drosophila females is a well-esta... more The post-mating response induced by male-derived sex-peptide in Drosophila females is a well-established model to elucidate how complex innate behaviors are hard-wired into the brain. Here, we found that the channel nuclear pore protein Nup54 is essential for the sex-peptide response as viable mutant alleles do not lay eggs and reduce receptivity upon sex-peptide exposure. Nup54 directs correct wiring of few adult brain neurons that express pickpocket and are required for egg laying, but channel Nups also mediate sexual differentiation and male X-chromosome dosage compensation. Consistent with links of Nups to speciation, the Nup54 promoter is a hot spot for rapid evolution and Nup54 is differentially expressed in the brain. These results implicate altered expression of Nup54 to the onset of speciation processes leading to changes in neuronal wiring and sexual differentiation as a response to sexual conflict arising from male-derived SP to direct the female post-mating response.
Maximizing crop yields relies on the use of agrochemicals to control insect pests. One of the mos... more Maximizing crop yields relies on the use of agrochemicals to control insect pests. One of the most widely used classes of insecticides is the neonicotinoids but these can also disrupt crop-pollination services provided by bees. Here, we analysed the impact of chronic exposure to the neonicotinoid thiamethoxam on gene expression and alternative splicing in brains of Africanized honey bees, Apis mellifera. We find differentially regulated genes that show concentration-dependent responses to thiamethoxam. Most have no annotated function but encode short Open Reading Frames (sORFs), a characteristic feature of anti-microbial peptides. We show that intrinsically sub-lethal thiamethoxam exposure makes bees more vulnerable to pathogenic bacteria. Our findings imply a synergistic mechanism for the observed bee population declines that concern agriculturists, conservation ecologists and the public.
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Papers by daniela scocchia