4 research outputs found
A systematic survey of floral nectaries
The construction of classifications, as well as the understanding of biological diversity, depends upon a careful comparison of attributes of the organisms studied (Stuessy, 1990). It is widely known that data from diverse sources showing differences from taxon to taxon are of systematic significance. Dur-ing the 20th century, systematists have emphasized that their discipline involves a synthesis of all knowledge (Stevens, 1994) or, in other words, the variation of as many relevant characters as possible should be incorporated into the natural system to be constructed. The extent to which particular characters are constant or labile will determine their usefulness to syste-matics. In general, more conservative characters will be valuable in defining families and orders, whereas more labile characters may be useful at the ge-neric and specific levels (Webb, 1984). There is no doubt that floral characters are among the most used in the classification of flowering plants. At the same time, they constitute essential features in diagnostic keys to taxa in both taxonomic treatments and Floras (Cronquist, 1981, 1988).Fil: Bernardello, Gabriel Luis Mario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto Multidisciplinario de Biología Vegetal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto Multidisciplinario de Biología Vegetal; Argentin
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.
We used clinically recommended guidelines to collect and interrogate the pathogenicity of 44 USP9X variants associated with neurodevelopmental disorders in males. Functional studies in patient-derived cell lines and mice were used to determine mechanisms of pathology.
Twelve missense variants showed strong evidence of pathogenicity. We define a characteristic phenotype of the central nervous system (white matter disturbances, thin corpus callosum, and widened ventricles); global delay with significant alteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; and other common congenital and dysmorphic features. Comparison of in silico and phenotypical features align additional variants of unknown significance with likely pathogenicity. In support of partial loss-of-function mechanisms, using patient-derived cell lines, we show loss of only specific USP9X substrates that regulate neurodevelopmental signaling pathways and a united defect in transforming growth factor β signaling. In addition, we find correlates of the male phenotype in Usp9x brain-specific knockout mice, and further resolve loss of hippocampal-dependent learning and memory.
Our data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor β signaling and hippocampal function