Population size and breeding performance of the Lanner Falcon Falco biarmicus in Sicily: conservation implications

Capsule: We report a significant reduction in population size and breeding success for the Lanner Falcon Falco biarmicus in Sicily, its biggest stronghold in Europe, since the latest coordinated survey. Aims: To provide updated information on current population size of Lanner Falcon in Sicily and to compare breeding parameters with those obtained in previous studies. Methods: We performed an intensive coordinated field survey and literature review of breeding success parameters across the species range. Results: Overall, we monitored 126 territories throughout Sicily where the species had been reported in the last 15 years. Lanner Falcons were present only in 60 of them. Mean nest productivity (\ub1 standard deviation) was 1.09 \ub1 1.18 fledged young/checked pairs, flight rate was 2.22 \ub1 0.52 fledged young/successful pairs and breeding success was 49.0%. Conclusions: Indirect measures aimed at preventing abandonment of occupied territories should be applied, for instance by developing a network of priority areas and slowing down degradation of the pseudo-steppe habitats by agri-environmental schemes. Additionally, direct measures aimed at preventing nest robbery, including the organization of nest guarding activities, and reduction of anthropogenic disturbance and illegal shooting, must be encouraged in order to avoid territory abandonment

Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia

Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant. By investigating the pathogenic mechanism, we demonstrate the inability of the DDX11 p.Leu836Pro mutant to unwind forked DNA substrates, while retaining DNA binding activity. We observed the accumulation of patient-derived cells at the G2/M phase and increased chromosomal fragmentation after mitomycin C treatment. The phenotype partially overlaps with features of the Fanconi anemia cells, which shows not only genomic instability but also defective mitochondria. This prompted us to examine mitochondrial functionality in WABS cells and revealed an altered aerobic metabolism. This opens the door to the further elucidation of the molecular and cellular basis of an impaired mitochondrial phenotype and sheds light on this fundamental process in cell physiology and the pathogenesis of these diseases

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia

none19Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant. By investigating the pathogenic mechanism, we demonstrate the inability of the DDX11 p.Leu836Pro mutant to unwind forked DNA substrates, while retaining DNA binding activity. We observed the accumulation of patient-derived cells at the G2/M phase and increased chromosomal fragmentation after mitomycin C treatment. The phenotype partially overlaps with features of the Fanconi anemia cells, which shows not only genomic instability but also defective mitochondria. This prompted us to examine mitochondrial functionality in WABS cells and revealed an altered aerobic metabolism. This opens the door to the further elucidation of the molecular and cellular basis of an impaired mitochondrial phenotype and sheds light on this fundamental process in cell physiology and the pathogenesis of these diseases.noneBottega R.; Ravera S.; Napolitano L.M.R.; Chiappetta V.; Zini N.; Crescenzi B.; Arniani S.; Faleschini M.; Cortone G.; Faletra F.; Medagli B.; Sirchia F.; Moretti M.; de Lange J.; Cappelli E.; Mecucci C.; Onesti S.; Pisani F.M.; Savoia A.Bottega, R.; Ravera, S.; Napolitano, L. M. R.; Chiappetta, V.; Zini, N.; Crescenzi, B.; Arniani, S.; Faleschini, M.; Cortone, G.; Faletra, F.; Medagli, B.; Sirchia, F.; Moretti, M.; de Lange, J.; Cappelli, E.; Mecucci, C.; Onesti, S.; Pisani, F. M.; Savoia, A

Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia

Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant. By investigating the pathogenic mechanism, we demonstrate the inability of the DDX11 p.Leu836Pro mutant to unwind forked DNA substrates, while retaining DNA binding activity. We observed the accumulation of patient-derived cells at the G2/M phase and increased chromosomal fragmentation after mitomycin C treatment. The phenotype partially overlaps with features of the Fanconi anemia cells, which shows not only genomic instability but also defective mitochondria. This prompted us to examine mitochondrial functionality in WABS cells and revealed an altered aerobic metabolism. This opens the door to the further elucidation of the molecular and cellular basis of an impaired mitochondrial phenotype and sheds light on this fundamental process in cell physiology and the pathogenesis of these diseases