A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family

Abstract Background Glomerulopathy with fibronectin deposits is an autosomal dominant disease associated with proteinuria, hematuria, hypertension and renal function decline. Forty percent of the cases are caused by mutations in FN1, the gene that encodes fibronectin. Case presentation This report describes two cases of Glomerulopathy with fibronectin deposits, involving a 47-year-old father and a 14-year-old son. The renal biopsies showed glomeruli with endocapillary hypercellularity and large amounts of mesangial and subendothelial eosinophilic deposits. Immunohistochemistry for fibronectin was markedly positive. Whole exome sequencing identified a novel FN1 mutation that leads to an amino-acid deletion in both patients (Ile1988del), a variant that required primary amino-acid sequence analysis for assessment of pathogenicity. Our primary sequence analyses revealed that Ile1988 is very highly conserved among relative sequences and is positioned in a C-terminal FN3 domain containing heparin- and fibulin-1-binding sites. This mutation was predicted as deleterious and molecular mechanics simulations support that it can change the tertiary structure and affect the complex folding and its molecular functionality. Conclusion The current report not only documents the occurrence of two GFND cases in an affected family and deeply characterizes its anatomopathological features but also identifies a novel pathogenic mutation in FN1, analyzes its structural and functional implications, and supports its pathogenicity.https://deepblue.lib.umich.edu/bitstream/2027.42/152212/1/12882_2019_Article_1507.pd

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

COMPOSITION OF THE FISH FAUNA OF THE HYDROGRAPHIC BASINS OF RIO GRANDE DO NORTE, BRAZIL

Aqui é apresentado um extenso levantamento atualizado da composição das espécies de peixes de água doce das bacias hidrográficas do Estado do Rio Grande do Norte. A compilação foi realizada a partir de levantamentos préviose dados da literatura sobre o registro das espécies, reportadas no período de 1982 a 2013. Foram identificadas 51 espécies, distribuídas em dezordens (Cypriniformes, Characiformes, Perciformes, Siluriformes, Synbranchiformes, Cyprinodontiformes, Gymnotiformes, Gasterosteiformes, Pleuronectiformes e Elopiformes) e 25 famílias (Characidae, Curimatidae, Anostomidae, Prochilodontidae, Erythrinidae, Crenuchidae, Cichlidae, Sciaenidae, Eleotridae, Gobiidae, Mugilidae, Gerreidae, Centropomidae, Auchenipteridae, Heptapteridae, Loricariidae, Callichthydae, Synbranchidae, Cyprinidae, Poeciliidade, Rivulidae, Gymnotidae, Syngnathidae, Achiridaee Megalopidae). Um total de 32espécies são autóctones, nove são alóctonese dezque também habitam ambientes marinhos/estuarinos. Dentre as ordens encontradas, Characiformesfoi a mais representativacom 42% do total de espécies, seguida porPerciformes 30%, Siluriformes 12% e Cyprinodontiformes 8%. A família mais representativa foi Characidae com 24%, seguida por Cichlidae com 14% das espécies. O levantamento apresentado,embora preliminar, possibilita o reconhecimento da fauna íctica local e a extensão de ocorrência de espécies introduzidas, contribuindo para futuros planos de manejo desta fauna.Palavras-chave: ictiofauna, recursos pesqueiros das águas interiores, espécies introduzidas, semi-árido.The objective of thisstudy was to conduct a surveyon thecomposition of the freshwater fishspecies found in the hydrographic basinsof the State ofRioGrande do Norte.Information was obtainedfrom the compilation of all freshwater fish speciescollected in the Stateof RioGrande do Norte during the periodof 1982 to 2013, andby reviewingdata fromscientific papers.Fifty one fish speciesare listed, distributed in ten orders (Elopiformes, Cypriniformes, Characiformes, Siluriformes, Gymnotiformes, Cyprinodontiformes, Gasterosteiformes, Synbranchiformes, Perciformes e Pleuronectiformes) and 25 families (Characidae, Curimatidae, Anostomidae, Prochilodontidae, Erythrinidae, Crenuchidae, Cichlidae, Sciaenidae, Eleotridae, Gobiidae, Mugilidae, Gerreidae, Centropomidae, Auchenipteridae, Heptapteridae, Loricariidae, Callichthydae, Synbranchidae, Cyprinidae, Poeciliidade, Rivulidae, Gymnotidae, Syngnathidae, Achiridae e Megalopidae), out of which 32 are native fish species, six are introduced, three are exotic and 10 are of marine origin. The order Characiformes was more representative with 42%, followed by Perciformes with 30%, Siluriformes 12% and Cyprinodontiformes 8%. The most representative family was Characidae with 24% followed by the family Cichlidae with 14% of the species. The results of this work can enrich the knowledge of the fish fauna and provide basic data for elaborating a management planto promote the sustainable use of fishery stocks and conservation of fish species of the hydrographic basins of the Rio Grande do Norte.Keywords: freshwater fish fauna; fishery resource of inland waters; hydrographic basins; Rio Grande do Norte