Lafora disease (LD), a fatal neurodegenerative disorder characterized by intracellular inclusions called Lafora bodies (LBs), is caused by recessive loss-of-function mutations in the genes encoding either laforin or malin. Previous studies suggested a role of these proteins in regulating glycogen biosynthesis, in glycogen dephosphorylation and in the modulation of intracellular proteolytic systems. However, the contribution of each of these processes to LD pathogenesis is unclear. Here we review our recent finding that dysfunction of autophagy is a common feature of both laforin- and malin-deficient mice, preceding other pathological manifestations. We propose that autophagy plays a primary role in LD pathogenesis and is a potential target for its treatment. 相似文献
Growth bands are alternate dark/light bands perpendicular to the feather rachis. Previous studies indicate that pairs of dark/light bands are grown every 24h, with light bands being produced at night, and dark ones during the day. Thus, the dark:light width ratio could reflect the photoperiod under which a feather was grown. We tested this hypothesis by inducing feathers to grow under contrasting photoperiods, using red‐legged partridges Alectoris rufa as a model species. We first validated the assumption that a pair of dark/light band is produced every day. Secondly, we show that dark/light width ratios remain close to 1:1, irrespective of the photoperiod under which feathers were grown. Dark:light width ratios of feathers grown in summer (15 light‐hours: 9 darkness‐hours) and winter solstices (9l: 15d) did not show any consistent pattern of variation within individuals. Thus, the dark/light banding patterns are not simply the product of light regimes and are not indicative of photoperiod. This finding, together with reports of “aberrant” growth band patterns (e.g. two growth bands produced over 24 h instead of one) challenges our current knowledge of growth bands. We propose that the normal circadian periodicity of growth bands is primarily driven by circadian rhythms: band formation starts at a point of critically low physiological activity (e.g. during night resting), and thus every 24 h irrespective of photoperiod. Our experiment emphasises that our knowledge of growth bands is weaker than previously appreciated, and that the study of dark/light band patterns on feathers could shed new light on interesting phenomena such as unusual avian biological rhythms and the functioning of internal clocks. Detecting “aberrant” banding patterns could therefore allow identifying bird species with unusual activity patterns or physiological rhythms. 相似文献
Aim Ecological interactions are among the most important biotic factors influencing the processes of speciation and extinction. Our aim was to test whether diversification rates of New World Noctilionoidea bats are associated with specialization for frugivory, and how this pattern differs between the mainland and the West Indies. Location The New World. Methods We reconstructed a time‐calibrated molecular phylogenetic hypothesis for the New World genera of the superfamily Noctilionoidea. We compiled data on diet, morphology, geographical distribution and number of ecoregions in which each genus occurs. Then, using the phylogenetic tree constructed, we tested whether diversification was driven by diet (animalivorous and sanguinivorous versus nectarivorous and frugivorous) and specialization for frugivory. Afterwards, we conducted phylogenetic comparative analyses to identify correlates of species richness and net diversification rates. Results The diversification rate was higher in mutualistic than in antagonistic clades in mainland and Antillean biogeographical scenarios, but only strictly frugivorous clades showed a markedly higher diversification rate than the rest of the genera. Geographical range and number of ecoregions were positively associated with species richness and diversification rate in continental and insular lineages. Lower body mass, lower forearm length and specialization for frugivory were significantly positively correlated with higher diversification rates in continental lineages, whereas these parameters were negatively correlated in Antillean lineages. Main conclusions The direction of the relationship of intrinsic factors (specialization for frugivory and body size) with diversification of noctilionoid bats depends on the biogeographical context, whereas the direction of the relationship of extrinsic factors (geographical range and number of ecoregions) with diversification is consistent in both mainland and the West Indian lineages. 相似文献
Lack of operculum, a neurocranial deformity, is the most common external abnormality to be found among industrially produced gilthead seabream (Sparus aurata L.), and this entails significant financial losses. This study conducts, for the first time in this species, a quantitative trait loci (QTL) analysis of the lack of operculum. A total of 142 individuals from a paternal half‐sibling family (six full‐sibling families) were selected for QTL mapping. They had previously shown a highly significant association with the prevalence of lack of operculum in a segregation analysis. All the fish were genotyped for 106 microsatellite markers using a set of multiplex PCRs (ReMsa1–ReMsa13). A linear regression methodology was used for the QTL analysis. Four QTL were detected for this deformity, two of which (QTLOP1 and QTLOP2) were significant. They were located at LG (linkage group) nine and LG10 respectively. Both QTL showed a large effect (about 27%), and furthermore, the association between lack of operculum and sire allelic segregation observed was statistically significant in the QTLOP1 analysis. These results represent a significant step towards including marker‐assisted selection for this deformity in genetic breeding programmes to reduce the incidence of the deformity in the species. 相似文献
The aerobic degradation of cholesterol, testosterone, androsterone, progesterone, and further steroid compounds as sole carbon
source has been observed in the newly isolated bacterial Gram-positive strain Chol-4. The 16S rRNA gene sequence shares the
greatest similarity with members of the genus Rhodococcus, with the closest shared nucleotide identities of 98–99% with Rhodococcusruber (DSM 43338T) and Rhodococcusaetherivorans (DSM 44752T). Phylogenetic analysis of Rhodococcus 16S rRNA gene sequences consistently places strain Chol-4 in a clade shared with those both type strains within the Rhodococcus rhodochrous subclade. The results of DNA–DNA hybridization against its two phylogenetically closest neighbors as well as the results
of morphological, physiological, and biochemical tests allowed genotypic and phenotypic differentiation of strain Chol-4 from
Rhodococcusruber (DSM 43338T) on the species level and from the other validly described Rhodococcus species on the genus level. Strain Chol-4 therefore merits recognition as a novel strain of the species Rhodococcusruber and demonstrates for the first time the capability of this species to utilize a great variety of steroid compounds as growth
substrates never shown for other species of this genus so far. The genome of strain Chol-4 harbors at least one gene cluster
that may be responsible for the degradation of steroid compounds. This gene cluster was identified in a cloned 5458 bp BamHI–EcoRV DNA fragment and compared to similar genes from other Gram-positive and Gram-negative bacteria described so far. 相似文献
Nutrient management is one of the most important agricultural practices to ensure yield and fruit quality. The aim of this study was to examine the effect of N and P availability in the yield and quality of tomato fruits (Solanum lycopersicum var. Meyity), and the hormonal mechanisms underlying these effects. Fruit yield and quality (in terms of sugar accumulation and titratable acidity) at harvest, together with the hormonal profiling of developing fruits were evaluated. While low N caused a reduction of sugars, reduced P availability increased sugars and reduced acidity in fruits. These changes were not accompanied by significant reductions in yield. Enhanced trans-zeatin content at early stages of fruit development and during color break might be associated with an increased sink activity. Furthermore, jasmonic acid, salicylic acid and 1-aminocyclopropane-1-carboxylic acid (the ethylene precursor) concentrations increased at early stages of fruit development, thus suggesting a complex hormonal crosstalk induced by low P availability. In conclusion, a reduction of P availability increased tomato sugar contents, while yield was not negatively impacted. These results have implications to alleviate the depletion of natural P reserves to arrive at a more sustainable horticulture.