Variations In Desiccation Tolerance In Seeds Of Eugenia Pyriformis: Dispersal At Different Stages Of Maturation

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Eugenia pyriformis Cambess., known locally as uvaieira, a species of fruit-bearing tree with both pharmacological and gastronomic potential, has seeds which are sensitive to desiccation. The aim of this study was to analyse whether the degree of tolerance to desiccation of uvaieira seeds depends on the stage of maturation of the seeds at shedding. This, in turn, depends on the environmental conditions in which the seeds develop, including the accumulation of degree-days and rainfall in the period. Seeds were collected from the ripe fruit of parent plants located in the states of São Paulo and Minas Gerais, Brazil, submitted to drying and analysed for water content and germination. A completely randomised design was used in a 20 × 3 factorial scheme (source of material x level of drying). The degree of desiccation tolerance differs between region and period of collection, even for the same parent plant when the seeds are collected in different years. The water and thermal conditions of the environment during seed development modify the maturation cycle, the physiological quality and the acquisition of desiccation tolerance. In uvaieira seeds, desiccation tolerance depends on the physiological maturity of the seeds at the time of dispersal, which is associated with the environmental conditions.471118126CAPES, Coordenação de Aperfeiçoamento de Pessoal de Nível SuperiorCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Background Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised. Methods Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for COL17A1 variants. Patient phenotypes were assessed by clinical examination and analyses of affected teeth. Results Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic COL17A1 variants, including missense, premature termination codons, frameshift and splice site variants in both the endo-domains and the ecto-domains of the protein. The AI phenotype was consistent with enamel of near normal thickness and variable focal hypoplasia with surface irregularities including pitting. Conclusion These results indicate that COL17A1 variants are a frequent cause of dominantly inherited non-syndromic AI. Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care