Characterization of polymorphic microsatellite markers from the aquatic angiosperm Berula erecta (Hudson) Coville (Apiaceae)

International audienc

Genetic temporal dynamics in restored wetlands : A case of a predominantly clonal species, Berula erecta (Huds.) Coville

International audienceGenetic variability is a key component of biodiversity. Therefore, the health of populations that colonise restored ecosystems depends on maintaining a level of genetic diversity similar to what is found in unre- stored and healthy populations. Wetland restoration occurs frequently, but genetic monitoring rarely considers the genetic variability of species that grow spontaneously in restored ecosystems as a marker of overall ecological restoration success. In this study, the temporal dynamics of genetic variability in an aquatic pioneer plant species, Berula erecta (Hudson) Coville (Apiaceae), were assessed based on an anal- ysis of 12 different microsatellite markers. We hypothesised that vegetative propagation was enhanced by restoration and consequently tended to decrease clonal richness and to stabilise genetic diversity. Several genetic and genotypic indices were surveyed over five years in three restored and two reference sites. An assessment of the breeding system in this population suggested that B. erecta was an ISR (initial seedling recruitment) species; for this type of species, disturbances caused by dewatering permitted an increase in the level of genetic diversity. The results suggested that there were no temporal changes in genetic diversity at any of the studied sites over the time scale of the study, despite strong changes in population sizes that were induced by restoration processes. Clonal richness tended to decrease over time, although not significantly. This study demonstrated that restored populations of clonal species maintained their genetic variability over time and that they might even display greater diversity than unrestored populations. This study also underscored the importance of monitoring the genetic diversity of species in restoration projects to maintain biodiversity

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

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Low risk of embryonic and other cancers in PIK3CA ‐related overgrowth spectrum: Impact on screening recommendations

International audienceThe PIK3CA ‐related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associated with an increased risk of Wilms tumor (WT). In PROS, abdominal ultrasound surveillance has been advocated to detect WT. We aimed to determine the risk of embryonic and other types of tumors in patients with PROS in order to evaluate surveillance relevance. We searched the clinical charts from 267 PROS patients for the diagnosis of cancer, and reviewed the medical literature for the risk of cancer. In our cohort, six patients developed a cancer (2.2%), and Kaplan Meier analyses estimated cumulative probabilities of cancer occurrence at 45 years of age was 5.6% (95% CI = 1.35%–21.8%). The presence of the PIK3CA variant was only confirmed in two out of four tumor samples. In the literature and our cohort, six cases of Wilms tumor/nephrogenic rests (0.12%) and four cases of other cancers have been reported out of 483 proven PIK3CA patients, in particular the p.(His1047Leu/Arg) variant. The risk of WT in PROS being lower than 5%, this is insufficient evidence to recommend routine abdominal imaging. Long‐term follow‐up studies are needed to evaluate the risk of other cancer types, as well as the relationship with the extent of tissue mosaicism and the presence or not of the variant in the tumor samples