Bianchini, L. | Search bioRxiv

bioRxiv2024

Loss of the Familial Dysautonomia gene Elp1 in cerebellar granule cell progenitors leads to ataxia in mice

Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons. While classically characterized by deficits in sensory and autonomic neurons, neuronal defects in the central nervous system have been described. ELP1 is highly expressed in the normal developing and adult cerebellum, but its role in cerebellum development is unknown. To investigate the cerebellar function of Elp1, we knocked out Elp1 in cerebellar granule cell progenitors (GCPs) and examined the outcome on animal behavior and cellular composition. We found that GCP-specific conditional knockout of Elp1 (Elp1cKO) resulted in ataxia by 8 weeks of age. Cellular characterization showed that the animals had smaller cerebella with fewer granule cells. This defect was already apparent 7 days after birth, when Elp1cKO animals also exhibited fewer mitotic GCPs and shorter Purkinje dendrites. Through molecular characterization, we found that loss of Elp1 was associated with an increase in apoptotic cell death and cell stress pathways in GCPs. Our study demonstrates the importance of ELP1 within the developing cerebellum, and suggests that Elp1 loss in the GC lineage may also play a role in the progressive ataxia phenotypes of FD patients.

neuroscience↗

bioRxiv2023

Stand age diversity dampens forests sensitivity to climate change

Stand age significantly influences the functioning of forest ecosystems by shaping structural and physiological plant traits, affecting water and carbon budgets. Forest age distribution is determined by the interplay of tree mortality and regeneration, influenced by both natural and anthropogenic disturbances. Thus, human-driven alteration of tree age distribution presents an underexplored avenue for enhancing forest stability and resilience. In our study, we investigated how age distribution impacts the stability and resilience of the forest carbon budget under both current and future climate conditions. We employed a biogeochemical model on three historically managed forest stands, projecting their future as undisturbed systems, i.e., left at their natural evolution with no management interventions. The model, driven by climate data from five Earth System Models under four representative climate scenarios and one baseline scenario, spanned 11 age classes for each stand. Our findings indicate that Net Primary Production (NPP) peaks in the young and middle-aged classes (16- to 50-year-old), aligning with ecological theories, regardless of the climate scenario. Under climate change, the beech forest exhibited an increase in NPP and maintained stability across all age classes, while resilience remained constant with rising atmospheric CO2 and temperatures. However, NPP declined under climate change scenarios for the Norway spruce and Scots pine sites. In these coniferous forests, stability and resilience were more influenced. These results underscore the necessity of accounting for age classes and species-specific reactions in evaluating the impacts of climate change on forest stability and resilience. We, therefore, advocate for customized management strategies that enhance the adaptability of forests to changing climatic conditions, taking into account the diverse responses of different species and age groups to climate.

plant biology↗