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duplications result in the formation of identical chimeric ATAD3A/ATAD3C proteins, altered ATAD3 complexes and a striking reduction in mitochondrial oxidative phosphorylation complex I and its activity in heart tissue.

duplications appear to act in a dominant-negative manner and the

inheritance infers a low recurrence risk for families, unlike most pediatric mitochondrial diseases. More than 350 genes underlie mitochondrial diseases. In our experience the

locus is now one of the five most common causes of nuclear-encoded pediatric mitochondrial disease but the repetitive nature of the locus means

diagnoses may be frequently missed by current genomic strategies.

Australian NHMRC, US Department of Defense, Japanese AMED and JSPS agencies, Australian Genomics Health Alliance and Australian Mito Foundation.

Australian NHMRC, US Department of Defense, Japanese AMED and JSPS agencies, Australian Genomics Health Alliance and Australian Mito Foundation.Plants have developed multiple strategies to respond to salt stress. In order to identify new traits related to salt tolerance, with potential breeding application, the research focus has recently been shifted to include root system architecture (RSA) and root plasticity. Using a simple but effective root phenotyping system containing soil (rhizotrons), RSA of several tomato cultivars and their response to salinity was investigated. We observed a high level of root plasticity of tomato seedlings under salt stress. The general root architecture was substantially modified in response to salt, especially with respect to position of the lateral roots in the soil. At the soil surface, where salt accumulates, lateral root emergence was most strongly inhibited. Within the set of tomato cultivars, H1015 was the most tolerant to salinity in both developmental stages studied. A significant correlation between several root traits and aboveground growth parameters was observed, highlighting a possible role for regulation of both ion content and root architecture in salt stress resilience.Cost-effective phenotyping methods are urgently needed to advance crop genetics in order to meet the food, fuel, and fiber demands of the coming decades. Concretely, characterizing plot level traits in fields is of particular interest. Recent developments in high-resolution imaging sensors for UAS (unmanned aerial systems) focused on collecting detailed phenotypic measurements are a potential solution. We introduce canopy roughness as a new plant plot-level trait. We tested its usability with soybean by optical data collected from UAS to estimate biomass. We validate canopy roughness on a panel of 108 soybean [Glycine max (L.) Merr.] recombinant inbred lines in a multienvironment trial during the R2 growth stage. A senseFly eBee UAS platform obtained aerial images with a senseFly S.O.D.A. compact digital camera. Using a structure from motion (SfM) technique, we reconstructed 3D point clouds of the soybean experiment. A novel pipeline for feature extraction was developed to compute canopy roughness from point clouds. We used regression analysis to correlate canopy roughness with field-measured aboveground biomass (AGB) with a leave-one-out cross-validation. Overall, our models achieved a coefficient of determination (R2) greater than 0.5 in all trials. Moreover, we found that canopy roughness has the ability to discern AGB variations among different genotypes. Our test trials demonstrate the potential of canopy roughness as a reliable trait for high-throughput phenotyping to estimate AGB. As such, canopy roughness provides practical information to breeders in order to select phenotypes on the basis of UAS data.Chlorophyll fluorescence is the most widely used set of techniques to probe photosynthesis and plant stress. Its great versatility has given rise to different routine methods to study plants and algae. The three main technical platforms are pulse amplitude modulation (PAM), fast rise of chlorophyll fluorescence, and fast repetition rate. Solar-induced fluorescence (SIF) has also gained interest in the last few years. Works have compared their advantages and their underlying theory, with many arguments advanced as to which method is the most accurate and useful. To date, no data has assessed the exact magnitude of popularity and influence for each methodology. In this work, we have taken the bibliometrics of the past decade for each of the four platforms, have evaluated the public scientific opinion toward each method, and possibly identified a geographical bias. We used various metrics to assess influence and popularity for the four routine platforms compared in this study and found that, overall, PAM currently has the highest values, although the more recent SIF has increased in popularity rapidly during the last decade. This indicates that PAM is currently one of the fundamental tools in chlorophyll fluorescence.We demonstrated that classical biophysical measurements of water dynamics on germinating diaspores (seeds and other dispersal units) can improve the understanding of the germination process in a simpler, safer, and newer way. This was done using diaspores of cultivated species as a biological model. To calculate the water dynamics measurements (weighted mass, initial diffusion coefficient, velocity, and acceleration), we used the mass of diaspores recorded over germination time. Weighted mass of germinating diaspores has a similar pattern, independent of the physiological quality, species, or genetic improvement degree. However, the initial diffusion coefficient (related to imbibition per se), velocity, and acceleration (related to the whole germination metabolism) are influenced by species characters, highlighting the degree of genetic improvement and physiological quality. Changes in the inflection of velocity curves demonstrated each phase of germination sensu stricto. There is no pattern related to the number of these phases, which could range between three and six. Regression models can demonstrate initial velocity and velocity increments for each phase, giving an idea of the management of germinative metabolism. Yoda1 Our finds demonstrated that germination is a polyphasic process with a species-specific pattern but still set by the degree of genetic improvement and (or) physiological quality of diaspores. Among the biophysical measurements, velocity has the greatest potential to define the germination metabolism.