Parthenogenetic species are usually considered to be short-lived due to the accumulation of adverse mutations, lack of genetic variability, and inability to adapt to changing environment. If so, one may expect that the phenotype of clonal organisms may reflect such genetic and/or environmental stress. To test this hypothesis, we compared the developmental stability of bisexual and parthenogenetic lizards of the genus Darevskia. We assessed asymmetries in three meristic traits: ventral, preanal, and supratemporal scales. Our results suggest that the amount of ventral and preanal asymmetries is significantly higher in clones compared with their maternal, but not paternal, progenitor species. However, it is questionable, whether this is a consequence of clonality, as it may be considered a mild form of outbreeding depression as well. Moreover, most ventral asymmetries were found in the bisexual species Darevskia valentini. We suggest that greater differences in asymmetry levels among bisexuals may be, for instance, a consequence of the population size: the smaller the population, the higher the inbreeding and the developmental instability. On the basis of the traits examined in this study, the parthenogens do not seem to be of significantly poorer quality.

• Klíčová slova
• developmental stability, fluctuating asymmetry, lizards, morphology, parthenogenesis,
• MeSH
• druhová specificita MeSH
• ještěři genetika   růst a vývoj   MeSH
• partenogeneze MeSH
• pohlavní dimorfismus MeSH
• rozvržení tělního plánu MeSH
• zvířata MeSH
• zvířecí šupiny MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Mammalian oocyte development depends on the temporally controlled translation of maternal transcripts, particularly in the coordination of meiotic and early embryonic development when transcription has ceased. The translation of mRNA is regulated by various RNA-binding proteins. We show that the absence of cytoplasmic polyadenylation element-binding protein 3 (CPEB3) negatively affects female reproductive fitness. CPEB3-depleted oocytes undergo meiosis normally but experience early embryonic arrest due to a disrupted transcriptome, leading to aberrant protein expression and the subsequent failure of embryonic transcription initiation. We found that CPEB3 stabilizes a subset of mRNAs with a significantly longer 3'UTR that is enriched in its distal region with cytoplasmic polyadenylation elements. Overall, our results suggest that CPEB3 is an important maternal factor that regulates the stability and translation of a subclass of mRNAs that are essential for the initiation of embryonic transcription and thus for embryonic development.

• Klíčová slova
• embryo, mRNA, oocyte, translation,
• MeSH
• 3' nepřekládaná oblast genetika   MeSH
• embryonální vývoj genetika   MeSH
• meióza genetika   MeSH
• messenger RNA genetika   metabolismus   MeSH
• myši MeSH
• oocyty * metabolismus   MeSH
• polyadenylace MeSH
• proteiny vázající RNA * metabolismus   genetika   MeSH
• stabilita RNA genetika   MeSH
• vývojová regulace genové exprese MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• 3' nepřekládaná oblast MeSH
• Cpeb3 protein, mouse MeSH Prohlížeč
• messenger RNA MeSH
• proteiny vázající RNA * MeSH

Three levels of sensorimotor control within the central nervous system (CNS) can be distinguished. During the neonatal stage, general movements and primitive reflexes are controlled at the spinal and brain stem levels. Analysis of the newborn's spontaneous general movements and the assessment of primitive reflexes is crucial in the screening and early recognition of a risk for abnormal development. Following the newborn period, the subcortical level of the CNS motor control emerges and matures mainly during the first year of life. This allows for basic trunk stabilization, a prerequisite for any phasic movement and for the locomotor function of the extremities. At the subcortical level, orofacial muscles and afferent information are automatically integrated within postural-locomotor patterns. Finally, the cortical (the highest) level of motor control increasingly becomes activated. Cortical control is important for the individual qualities and characteristics of movement. It also allows for isolated segmental movement and relaxation. A child with impaired cortical motor control may be diagnosed with developmental dyspraxia or developmental coordination disorder. Human ontogenetic models, i.e., developmental motor patterns, can be used in both the diagnosis and treatment of locomotor system dysfunction.

• Klíčová slova
• Developmental dyspraxia, Developmental kinesiology, Dynamic neuromuscular stabilization, General movements, Postural stabilization, Primitive reflexes, Sensorimotor control,
• MeSH
• apraxie diagnóza   MeSH
• kineziologie aplikovaná * MeSH
• kojenec MeSH
• lidé MeSH
• muskuloskeletální vývoj fyziologie   MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• pohyb fyziologie   MeSH
• postura těla fyziologie   MeSH
• předškolní dítě MeSH
• senzorická zpětná vazba fyziologie   MeSH
• vývoj dítěte fyziologie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH

Trypanosoma brucei is a parasitic protozoan that undergoes a complex life cycle involving insect and mammalian hosts that present dramatically different nutritional environments. Mitochondrial metabolism and gene expression are highly regulated to accommodate these environmental changes, including regulation of mRNAs that require extensive uridine insertion/deletion (U-indel) editing for their maturation. Here, we use high throughput sequencing and a method for promoting life cycle changes in vitro to assess the mechanisms and timing of developmentally regulated edited mRNA expression. We show that edited CYb mRNA is downregulated in mammalian bloodstream forms (BSF) at the level of editing initiation and/or edited mRNA stability. In contrast, edited COIII mRNAs are depleted in BSF by inhibition of editing progression. We identify cell line-specific differences in the mechanisms abrogating COIII mRNA editing, including the possible utilization of terminator gRNAs that preclude the 3' to 5' progression of editing. By examining the developmental timing of altered mitochondrial mRNA levels, we also reveal transcript-specific developmental checkpoints in epimastigote (EMF), metacyclic (MCF), and BSF. These studies represent the first analysis of the mechanisms governing edited mRNA levels during T. brucei development and the first to interrogate U-indel editing in EMF and MCF life cycle stages.

• MeSH
• editace RNA genetika   MeSH
• guide RNA, Kinetoplastida genetika   MeSH
• messenger RNA genetika   MeSH
• mitochondrie genetika   MeSH
• protozoální proteiny genetika   MeSH
• RNA mitochondriální genetika   MeSH
• RNA protozoální genetika   MeSH
• stabilita RNA genetika   MeSH
• Trypanosoma brucei brucei genetika   metabolismus   MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Názvy látek
• guide RNA, Kinetoplastida MeSH
• messenger RNA MeSH
• mitochondrial messenger RNA MeSH Prohlížeč
• protozoální proteiny MeSH
• RNA mitochondriální MeSH
• RNA protozoální MeSH

Fluctuating asymmetry (FA) of a body is expected to be related to an organism's developmental instability. We studied patterns of FA in the ventral side of the skull along a transect across the central-European portion of the hybrid zone between two house mouse subspecies, Mus musculus musculus and Mus musculus domesticus. We found that FA was not significantly different between introgression classes relative to differences between localities within those classes and that the within-class differences were much larger than differences between individual-signed asymmetries within localities. However, if year was added to the same analysis as another factor, FA was not significantly different among localities within the same introgression class. When individual asymmetries were plotted against individual hybrid indices, hybrids appeared more asymmetric than individuals from outside of the zone. Thus contrary to previous studies, we did not find lower FA indicating heterotic effect in hybrids for the traits studied. It is suggested that the impact of hybridization on FA in the ventral side of the mouse skull is negligible or overwhelmed by other factors.

• MeSH
• hybridizace genetická genetika   MeSH
• lebka anatomie a histologie   metabolismus   MeSH
• myši MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH

Effective postural control is essential for motor skill development, yet the specific nature of anticipatory control in children with Developmental Coordination Disorder (DCD) remains poorly understood for complex or dynamic stability tasks. This study investigated anticipatory postural adjustments (APA) during a self-initiated dynamic stability task. The Can Placement Task (CPT)-a self-initiated dynamic stability task-was performed by 23 children with DCD and 30 typically developing (TD) children aged 9-12 years. The task involved standing on one leg while also repositioning a can on the floor. Center of pressure (COP) movement was recorded by two force platforms during the five phases of the movement. The ground reaction force measured external support during both descent to pick up the can and ascent after replacing the can. The study used a mixed-design approach with group (DCD, TD) as a between-subject factor and condition (can position close or far) and phase of movement as within-subject. Distinct movement control characteristics were shown for children with DCD including a greater range of COP movement and higher COP velocity in the anterior-posterior direction prior to movement initiation compared with TD. The DCD group also relied more on external support during both the downward and upward phases of the CPT and needed more trials to complete the task. Only two significant interaction effects involving Group and the within-subject factors emerged. Children with DCD swayed significantly more at specific phases of the task, especially when coming up and restoring balance, and did not adapt COP velocity as a function of reaching distance. Dynamic control of posture in children with DCD is impaired as they struggle to generate the effective APAs necessary to maintain dynamic stability which leads to greater reliance on external support and more corrective movements. The CPT provides a valuable assessment of posture and dynamic balance control during a complex prehension movement performed on one leg; the task highlights distinct movement patterns between children with and without DCD.

• Klíčová slova
• APA, Children, Developmental coordination disorder, Force-plate, One-leg stance,
• MeSH
• bérec patofyziologie   fyziologie   MeSH
• dítě MeSH
• lidé MeSH
• pohyb fyziologie   MeSH
• poruchy motorických dovedností * patofyziologie   MeSH
• postura těla fyziologie   MeSH
• posturální rovnováha * fyziologie   MeSH
• stoj MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Nitrilases are highly conserved proteins with catabolic activity but much less understood functions in cell division and apoptosis. To elucidate the biological functions of Arabidopsis NITRILASE1, we characterized its molecular forms, cellular localization and involvement in cell proliferation and plant development. We performed biochemical and mass spectrometry analyses of NITRILASE1 complexes, electron microscopy of nitrilase polymers, imaging of developmental and cellular distribution, silencing and overexpression of nitrilases to study their functions. We found that NITRILASE1 has an intrinsic ability to form filaments. GFP-NITRILASE1 was abundant in proliferating cells, distributed in cytoplasm, in the perinuclear area and associated with microtubules. As cells exited proliferation and entered differentiation, GFP-NITRILASE1 became predominantly nuclear. Nitrilase silencing dose-dependently compromised plant growth, led to loss of tissue organization and sustained proliferation. Cytokinesis was frequently aborted, leading to enlarged polyploid cells. In reverse, independently transformed cell lines overexpressing GFP-NITRILASE1 showed slow growth and increased rate of programmed cell death. Altogether, our data suggest that NITRILASE1 homologues regulate the exit from cell cycle and entry into differentiation and simultaneously are required for cytokinesis. These functions are essential to maintain normal ploidy, genome stability and tissue organization.

• MeSH
• aminohydrolasy chemie   genetika   metabolismus   ultrastruktura   MeSH
• Arabidopsis cytologie   genetika   růst a vývoj   MeSH
• buněčná diferenciace genetika   MeSH
• buněčná smrt genetika   MeSH
• buněčný cyklus genetika   MeSH
• cytoplazma metabolismus   MeSH
• cytoskelet genetika   metabolismus   MeSH
• hydrolasy působící na anhydridy kyselin genetika   MeSH
• nádorové proteiny genetika   MeSH
• nestabilita genomu * MeSH
• proliferace buněk MeSH
• regulace genové exprese u rostlin MeSH
• RNA interference MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• aminohydrolasy MeSH
• fragile histidine triad protein MeSH Prohlížeč
• hydrolasy působící na anhydridy kyselin MeSH
• nádorové proteiny MeSH
• nitrilase MeSH Prohlížeč

The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are unknown. We identified FOXE3 variants in individuals with congenital eye malformations and carried out in vitro functional analysis on selected alleles. Sixteen new recessive and dominant families, including six novel variants, were identified. Analysis of new and previously reported genetic and clinical data demonstrated a broad phenotypic range with an overlap between recessive and dominant disease. Most families with recessive alleles, composed of truncating and forkhead-domain missense variants, had severe corneal opacity (90%; sclerocornea in 47%), aphakia (83%) and microphthalmia (80%), but some had milder features including isolated cataract. The phenotype was most variable for recessive missense variants, suggesting that the functional consequences may be highly dependent on the type of amino acid substitution and its position. When assessed, aniridia or iris hypoplasia were noted in 89% and optic nerve anomalies in 60% of recessive cases, indicating that these defects are also common and may be underrecognized. In dominant pedigrees, caused by extension variants, normal eye size (96%), cataracts (99%) and variable anterior segment anomalies were seen in most, but some individuals had microphthalmia, aphakia or sclerocornea, more typical of recessive disease. Functional studies identified variable effects on the protein stability, DNA binding, nuclear localization and transcriptional activity for recessive FOXE3 variants, whereas dominant alleles showed severe impairment in all areas and dominant-negative characteristics.

• MeSH
• abnormality očí enzymologie   genetika   MeSH
• alely MeSH
• dítě MeSH
• fenotyp MeSH
• forkhead transkripční faktory genetika   metabolismus   MeSH
• katarakta genetika   MeSH
• lidé MeSH
• mladiství MeSH
• mutace MeSH
• oči embryologie   růst a vývoj   MeSH
• rodokmen MeSH
• vývojové poruchy u dětí genetika   MeSH
• zákal rohovky genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Názvy látek
• forkhead transkripční faktory MeSH
• FOXE3 protein, human MeSH Prohlížeč

Some people aged 80 years and older are "memory SuperAgers" (SAs), that is, they have the episodic memory of a sexagenarian. In a sample of 208 non-demented adults, we found that 12% were SAs. A total of 101 participants completed the 4-year study; of this subsample, 10.9% were stable SAs and 61.3% stable non-SAs across all assessments. The SA phenotype is conducive to further research.

• Klíčová slova
• SuperAgers, cognitive performance stability, episodic memory, healthy aging, longitudinal study,
• MeSH
• epizodická paměť * MeSH
• kognice * MeSH
• lidé MeSH
• neuropsychologické testy statistika a číselné údaje   MeSH
• senioři nad 80 let MeSH
• stárnutí * MeSH
• zdraví dobrovolníci pro lékařské studie statistika a číselné údaje   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

In mouse, the oocyte-to-embryo transition entails converting a highly differentiated oocyte to totipotent blastomeres. This transition is driven by degradation of maternal mRNAs, which results in loss of oocyte identity, and reprogramming of gene expression during the course of zygotic gene activation, which occurs primarily during the two-cell stage and confers blastomere totipotency. Full-grown oocytes are transcriptionally quiescent and mRNAs are remarkably stable in oocytes due to the RNA-binding protein MSY2, which stabilizes mRNAs, and low activity of the 5' and 3' RNA degradation machinery. Oocyte maturation initiates a transition from mRNA stability to instability due to phosphorylation of MSY2, which makes mRNAs more susceptible to the RNA degradation machinery, and recruitment of dormant maternal mRNAs that encode for critical components of the 5' and 3' RNA degradation machinery. Small RNAs (miRNA, siRNA, and piRNA) play little, if any, role in mRNA degradation that occurs during maturation. Many mRNAs are totally degraded but a substantial fraction is only partially degraded, their degradation completed by the end of the two-cell stage. Genome activation initiates during the one-cell stage, is promiscuous, low level, and genome wide (and includes both inter- and intragenic regions) and produces transcripts that are inefficiently spliced and polyadenylated. The major wave of genome activation in two-cell embryos involves expression of thousands of new genes. This unique pattern of gene expression is the product of maternal mRNAs recruited during maturation that encode for transcription factors and chromatin remodelers, as well as dramatic changes in chromatin structure due to incorporation of histone variants and modified histones.

• Klíčová slova
• Genome activation, Maternal mRNA, Mouse oocyte, RNA degradation, Small RNA,
• MeSH
• embryo savčí metabolismus   MeSH
• genom MeSH
• myši MeSH
• oocyty metabolismus   MeSH
• stabilita RNA genetika   MeSH
• transkriptom genetika   MeSH
• vývojová regulace genové exprese MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Research Support, N.I.H., Extramural MeSH