Satellite-Based Assessment of Grassland Conversion and Related Fire Disturbance in the Kenai Peninsula, Alaska

Spruce beetle-induced (Dendroctonus rufipennis (Kirby)) mortality on the Kenai Peninsula has been hypothesized by local ecologists to result in the conversion of forest to grassland and subsequent increased fire danger. This hypothesis stands in contrast to empirical studies in the continental US which suggested that beetle mortality has only a negligible effect on fire danger. In response, we conducted a study using Landsat data and modeling techniques to map land cover change in the Kenai Peninsula and to integrate change maps with other geospatial data to predictively map fire danger for the same region. We collected Landsat imagery to map land cover change at roughly five-year intervals following a severe, mid-1990s beetle infestation to the present. Land cover classification was performed at each time step and used to quantify grassland encroachment patterns over time. The maps of land cover change along with digital elevation models (DEMs), temperature, and historical fire data were used to map and assess wildfire danger across the study area. Results indicate the highest wildfire danger tended to occur in herbaceous and black spruce land cover types, suggesting that the relationship between spruce beetle damage and wildfire danger in costal Alaskan forested ecosystems differs from the relationship between the two in the forests of the coterminous United States. These change detection analyses and fire danger predictions provide the Kenai National Wildlife Refuge (KENWR) ecologists and other forest managers a better understanding of the extent and magnitude of grassland conversion and subsequent change in fire danger following the 1990s spruce beetle outbreak

Satellite-Based Assessment of Grassland Conversion and Related Fire Disturbance in the Kenai Peninsula, Alaska

Spruce beetle-induced (Dendroctonus rufipennis (Kirby)) mortality on the Kenai Peninsula has heightened local wildfire risk as canopy loss facilitates the conversion from bare to fire-prone grassland. We collected images from NASA satellite-based Earth observations to visualize land cover succession at roughly five-year intervals following a severe, mid-1990's beetle infestation to the present. We classified these data by vegetation cover type to quantify grassland encroachment patterns over time. Raster band math provided a change detection analysis on the land cover classifications. Results indicate the highest wildfire risk is linked to herbaceous and black spruce land cover types, The resulting land cover change image will give the Kenai National Wildlife Refuge (KENWR) ecologists a better understanding of where forests have converted to grassland since the 1990s. These classifications provided a foundation for us to integrate digital elevation models (DEMs), temperature, and historical fire data into a model using Python for assessing and mapping changes in wildfire risk. Spatial representations of this risk will contribute to a better understanding of ecological trajectories of beetle-affected landscapes, thereby informing management decisions at KENWR

Satellite-Based Assessment of Grassland Conversion and Related Fire Disturbance in the Kenai Peninsula, Alaska

Spruce beetle-induced (Dendroctonus rufipennis (Kirby)) mortality on the Kenai Peninsula has been hypothesized by local ecologists to result in the conversion of forest to grassland and subsequent increased fire danger. This hypothesis stands in contrast to empirical studies in the continental US which suggested that beetle mortality has only a negligible effect on fire danger. In response, we conducted a study using Landsat data and modeling techniques to map land cover change in the Kenai Peninsula and to integrate change maps with other geospatial data to predictively map fire danger for the same region. We collected Landsat imagery to map land cover change at roughly five-year intervals following a severe, mid-1990s beetle infestation to the present. Land cover classification was performed at each time step and used to quantify grassland encroachment patterns over time. The maps of land cover change along with digital elevation models (DEMs), temperature, and historical fire data were used to map and assess wildfire danger across the study area. Results indicate the highest wildfire danger tended to occur in herbaceous and black spruce land cover types, suggesting that the relationship between spruce beetle damage and wildfire danger in costal Alaskan forested ecosystems differs from the relationship between the two in the forests of the coterminous United States. These change detection analyses and fire danger predictions provide the Kenai National Wildlife Refuge (KENWR) ecologists and other forest managers a better understanding of the extent and magnitude of grassland conversion and subsequent change in fire danger following the 1990s spruce beetle outbreak

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Background: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. Methods: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. Results: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188–221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs. Conclusions: Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.Medicine, Faculty ofOther UBCNon UBCMedical Genetics, Department ofPediatrics, Department ofReviewedFacult

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

BackgroundWith the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations.MethodsWe tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk.ResultsWe report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs.ConclusionsOverall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics