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PubMed2005

Osmotic regulation of root system architecture.

Although root system architecture is known to be highly plastic and strongly affected by environmental conditions, we have little understanding of the underlying mechanisms controlling root system development. Here we demonstrate that the formation of a lateral root from a lateral root primordium is repressed as water availability is reduced. This osmotic-responsive regulatory mechanism requires abscisic acid (ABA) and a newly identified gene, LRD2. Mutant analysis also revealed interactions of ABA and LRD2 with auxin signaling. Surprisingly, further examination revealed that both ABA and LRD2 control root system architecture even in the absence of osmotic stress. This suggests that the same molecules that mediate responses to environmental cues can also be regulators of intrinsic developmental programs in the root system.

Abscisic Acid↗
PubMed2006

Genetic architecture of the F7 gene in a Spanish population: implication for mapping complex diseases and for functional assays.

Delineating the genetic variability of loci coding for complex diseases helps to understand the individual variation in disease susceptibility and drug response. We present the allelic architecture of the F7 gene. This gene is the major determinant of FVII plasma levels, and these plasma levels constitute an important intermediate risk factor for cardiovascular disease. As part of the Genetic Analysis of Idiopathic Thrombophila Project, we completely re-sequenced the F7 locus (promoter, exons, introns, and 3'-untranslated region) in 40 unrelated individuals. We found 49 polymorphisms with only two amino acid changes suggesting that regulatory non-coding and intronic variants are responsible for the FVII variability. These results are important for mapping susceptibility alleles of complex diseases, because differences in pair-wise linkage disequilibrium patterns between DNA variants and haplotype frequency distributions may help to detect disease-associated alleles. In addition, we present the results of an in silico search that established genomic comparisons among different species. In conclusion, our study of the F7 DNA sequence variations is an example of a strategy for analyzing the genetic architecture of a quantitative trait locus. Furthermore, it provides a model for future analyses of genetic factors that contribute to the susceptibility of complex diseases in humans.

Alleles↗
PubMed2004

Genetic architecture of population differences in oviposition behaviour of the seed beetle Callosobruchus maculatus.

Few studies have examined the genetic architecture of population differences in behaviour and its implications for population differentiation and adaptation. Even fewer have examined whether differences in genetic architecture depend on the environment in which organisms are reared or tested. We examined the genetic basis of differences in oviposition preference and egg dispersion between Asian (SI) and African (BF) populations of the seed beetle, Callosobruchus maculatus. We reared and tested females on each of two host legumes (cowpea and mung bean). The two populations differed in mean oviposition preference (BF females preferred cowpea seeds more strongly than did SI females) and egg dispersion (SI females distributed eggs more uniformly among seeds than did BF females). Observations of hybrid and backcross individuals indicated that only the population difference in oviposition preference could be explained by complete additivity, whereas substantial dominance and epistasis contributed to the differences in egg dispersion. Both rearing host and test host affected the relative magnitude of population differences in egg dispersion and the composite genetic effects. Our results thus demonstrate that the relative influence of epistasis and dominance on the behaviour of hybrids depends on the behaviour measured and that different aspects of insect oviposition are under different genetic control. In addition, the observed effect of rearing host and oviposition host on the relative importance of dominance and epistasis indicates that the genetic basis of population differences depends on the environment in which genes are expressed.

Adaptation, Physiological↗
PubMed2006

Genetic architecture of traits associated with serpentine adaptation of Silene vulgaris.

Serpentine soils provide a difficult substrate for plant colonization and growth and therefore represent an ideal system for studying the genetics of habitat adaptation and the evolution of plant-ecotypes. Using an F2 mapping population derived from an intraspecific cross between a serpentine and a nonserpentine ecotype of Silene vulgaris, the genetic architecture of seven morphological, physiological and life-history traits was explored. A quantitative trait locus (QTL) analysis identified 23 QTLs, 15 of which were classified as major QTLs. The observed genetic architecture suggests that traits potentially involved in habitat adaptation are controlled by few genes of major effect and have evolved under consistent directional selection. Several linkage groups harboured overlapping QTLs for different traits, which can be due to either pleiotropy or linkage. The potential roles of these factors and of the time available for habitat adaptation and ecological speciation on serpentine are discussed.

Adaptation, Physiological↗
PubMed2006

Sleep architecture in children with adenoidal hypertrophy.

AIM: Adenoidal hypertrophy (AH) in children is associated with obstructive manifestations like mouth breathing, snoring. Unfortunately, little is known regarding sleep architecture of AH in children. The purpose of this study was therefore undertaken to investigate the polysomnographic variables in children with AH. METHOD: 47 children with AH and 11 controls underwent nocturnal polysomnography. Sleep was scored manually according to the standard set by Rechtschaffen. RESULTS: In AH, stage 1 sleep percentage and rapid eye movement (REM) latency were increased significantly, while the sleep percentage of stage 2 and REM was decreased remarkably compared with that of controls. Arousal index in AH was much more higher than that in controls. Arousal index in REM sleep was higher than that in non-rapid eye movement (NREM) sleep in AH, but the number of arousals in REM sleep was lower than that in NREM sleep. Hypopnea events were the most common type of respiratory events, followed by obstructive events in AH and controls. Apnea/hypopnea index in AH was higher in comparison to controls. No significant difference was found between the children with AH and controls in SaO(2) nadir (%) and base mean SaO(2) (%). Apnea/hypopnea index was related to hypopnea arousal in REM sleep and hypoxemia arousal in NREM sleep. CONCLUSION: AH is predominantly characterised by a hypopnea with little obstruction in children. Our results clearly and for the first time demonstrated that sleep architecture was abnormal in children with AH. We therefore speculate that hypopnea arousal in REM sleep and hypoxemia arousal in NREM sleep may play an important role in the course of respiratory disturbance.

Adenoids↗
PubMed2005

Intralamellar relationships within the collagenous architecture of the annulus fibrosus imaged in its fully hydrated state.

The anisotropic, inhomogeneous, multiply collagenous architecture of the annulus reflects the complex pattern of mainly tensile stresses developed in this region of the disc during normal function. Structural and mechanical responses of fully hydrated in-plane sections taken from within single lamellae of the outer annulus of healthy bovine caudal discs have been investigated using a micromechanical technique in combination with simultaneous high-resolution differential interference contrast optical imaging. Responses both along and across (i.e. transverse to) the primary direction of the mono-array of collagen fibres were studied. Stretching along the alignment direction revealed a biomechanical response consistent with the behaviour of an array whose overall strength is governed primarily by the strength of embedding of the fibres in the vertebral endplates, rather than from interfibre cohesion along their length. The mono-aligned array, even when lacerated, is highly resistant to any further tearing across the alignment direction. Although not visible in the relaxed mono-arrays, transverse stretching revealed a highly complex set of interconnecting structures embodying hierarchical relationships not previously revealed. It is suggested that these structures might play an important role in the containment under pressure of the nuclear contents. The dramatic differences in rupture behaviour observed along vs. across the primary fibre direction are consistent with the known clinical consequences arising from varying degrees of annular wall damage, and might also explain various types of disc herniation. The lamellar architecture of the healthy disc revealed by this investigation provides an important reference framework for exploring structural changes associated with disc trauma and degeneration.

Animals↗
PubMed2006

Regional variations in human patellar trabecular architecture and the structure of the proximal patellar tendon enthesis.

Proximal patellar tendinopathy occurs as an overuse injury in sport and is also characteristic of ankylosing spondylitis patients. It particularly affects the posteromedial part of the patellar tendon enthesis, although the reason for this is unclear. We investigated whether there are regional differences in the trabecular architecture of the patella or in the histology of the patellar tendon enthesis that could suggest unequal force transmission from bone to tendon. Trabecular architecture was analysed from X-rays taken with a Faxitron radiography system of the patellae of dissecting room cadavers and in magnetic resonance images of the knees of living volunteers. Structural and fractal analyses were performed on the Faxitron digital images using MatLab software. Regional differences at the enthesis in the thickness of the uncalcified fibrocartilage and the subchondral plate were evaluated histologically in cadaveric material. The radiological studies showed that the quantity of bone and the apparent trabecular thickness in the patella were greatest medially, and that in the lateral part of the patella there were fewer trabeculae which were orientated either antero-posteriorly or superiorly inferiorly. The histological study showed that the uncalcified fibrocartilage was most prominent medially and that the subchondral plate was thinner laterally. Overall, the results indicate that mechanical stress at the proximal patellar tendon enthesis is asymmetrically distributed and greater on the medial than on the lateral side. Thus, we suggest that the functional anatomy of the knee is closely related to regional variations in force transmission, which in turn relates to the posteromedial site of pathology in proximal patellar tendinopathy.

Adult↗
PubMed1998

In vivo measurements of the triceps surae complex architecture in man: implications for muscle function.

1. The objectives of this study were to (1) quantify experimentally in vivo changes in pennation angle, fibre length and muscle thickness in the triceps surae complex in man in response to changes in ankle position and isometric plantarflexion moment and (2) compare changes in the above muscle architectural characteristics occurring in the transition from rest to a given isometric plantarflexion intensity with the estimations of a planimetric muscle model assuming constant thickness and straight muscle fibres. 2. The gastrocnemius medialis (GM), gastrocnemius lateralis (GL) and soleus (SOL) muscles of six males were scanned with ultrasonography at different sites along and across the muscle belly at rest and during maximum voluntary contraction (MVC) trials at ankle angles of -15 deg (dorsiflexed direction), 0 deg (neutral position), +15 deg (plantarflexed direction) and +30 deg. Additional images were taken at 80, 60, 40 and 20% of MVC at an ankle angle of 0 deg. 3. In all three muscles and all scanned sites, as ankle angle increased from -15 to +30 deg, pennation increased (by 6-12 deg, 39-67%, P < 0.01 at rest and 9-16 deg, 29-43%, P < 0.01 during MVC) and fibre length decreased (by 15-28 mm, 32-34%, P < 0.01 at rest and 8-10 mm, 27-30%, P < 0.05 during MVC). Thickness in GL and SOL increased during MVC compared with rest (by 5-7 mm, 36-47%, P < 0.01 in GL and 6-7 mm, 38-47%, P < 0.01 in SOL) while thickness of GM did not differ (P > 0.05) between rest and MVC. 4. At any given ankle angle the model underestimated changes in GL and SOL occurring in the transition from rest to MVC in pennation angle (by 9-12 deg, 24-38%, P < 0.01 in GL and 9-14 deg, 25-28%, P < 0.01 in SOL) and fibre length (by 6-15 mm, 22-39%, P < 0.01 in GL and 6-8 mm, 23-24%, P < 0.01 in SOL). 5. The findings of the study indicate that the mechanical output of muscle as estimated by the model used may be unrealistic due to errors in estimating the changes in muscle architecture during contraction compared with rest.

Adult↗
PubMed2005

Root architecture and wind-firmness of mature Pinus pinaster.

This study aims to link three-dimensional coarse root architecture to tree stability in mature timber trees with an average of 1-m rooting depth. Undamaged and uprooted trees were sampled in a stand damaged by a storm. Root architecture was measured by three-dimensional (3-D) digitizing. The distribution of root volume by root type and in wind-oriented sectors was analysed. Mature Pinus pinaster root systems were organized in a rigid 'cage' composed of a taproot, the zone of rapid taper of horizontal surface roots and numerous sinkers and deep roots, imprisoning a large mass of soil and guyed by long horizontal surface roots. Key compartments for stability exhibited strong selective leeward or windward reinforcement. Uprooted trees showed a lower cage volume, a larger proportion of oblique and intermediate depth horizontal roots and less wind-oriented root reinforcement. Pinus pinaster stability on moderately deep soils is optimized through a typical rooting pattern and a considerable structural adaptation to the prevailing wind and soil profile.

Biomechanical Phenomena↗
PubMedDate not supplied

The contribution of epistatic pleiotropy to the genetic architecture of covariation among polygenic traits in mice.

The contribution that pleiotropic effects of individual loci make to covariation among traits is well understood theoretically and is becoming well documented empirically. However, little is known about the role of epistasis in determining patterns of covariation among traits. To address this problem we combine a quantitative trait locus (QTL) analysis with a two-locus model to assess the contribution of epistasis to the genetic architecture of variation and covariation of organ weights and limb bone lengths in a backcross population of mice created from the M16i and CAST/Ei strains. Significant epistasis was exhibited by 14 pairwise combinations of QTL for organ weights and 10 combinations of QTL for limb bone lengths, which contributed, on average, about 5% of the variation in organ weights and 8% in limb bone lengths beyond that of single-locus QTL effects. Epistatic pleiotropy was much more common in the limb bones (seven of 10 epistatic combinations affecting limb bone lengths were pleiotropic) than the organs (three of the 14 epistatic combinations affecting organ weights were pleiotropic). In both cases, epistatic pleiotropy was less common than single-locus pleiotropy. Epistatic pleiotropy accounted for an average of 6% of covariation among organ weights and 21% of covariation among limb bone lengths, which represented an average of one-fifth (for organ weights) and one-third (for limb bone lengths) of the total genetic covariance between traits. Thus, although epistatic pleiotropy made a smaller contribution than single-locus pleiotropy, it clearly made a significant contribution to the genetic architecture of variation/covariation.

Animals↗
PubMed2005

Spontaneous epileptic rats show changes in sleep architecture and hypothalamic pathology.

PURPOSE: The goal of the present study was to investigate the relationship between sleep, hypothalamic pathology, and seizures in spontaneous epileptic rats. METHODS: Rats were implanted with radiotelemetry transmitters for measuring electrocorticogram (ECoG) and stimulation electrodes in the hippocampus. Epileptogenesis was triggered by 2 h of electical stimulation-induced self-sustained status epilepticus (SSSE). After SSSE, ECoGs were monitored over a 15-week period for the occurrence of interictal high-amplitude low-frequency (HALF) acitvity and spontaneous reoccurring seizures (SRSs). RESULTS: Spontaneous epileptic rats showed clinical features of temporal lobe epilepsy (TLE), such as spontaneous seizures, interictal activity and neuronal cell loss in the dorsomedial hypothalamus, a region important for normal sleep regulation. Interestingly, epileptic rats showed disturbances in sleep architecture, with a high percentage of the seizures occurring during sleep. CONCLUSIONS: Therefore we conclude that a close association exists between epileptiform activity and alterations in sleep architecture that may be related to hypothalamic pathology.

Animals↗
PubMed2006

Architectural (Type IA) focal cortical dysplasia and parvalbumin immunostaining in temporal lobe epilepsy.

PURPOSE: We analyzed 26 surgically treated patients operated on for intractable epilepsy associated with type IA (architectural) cortical dysplasia, to investigate neuropathologic and immunocytochemical features, particularly of the gamma-aminobutyric acid (GABA)ergic system, and to compare the findings with those observed in normal cortex. METHODS: Routinely stained slides and serial sections immunostained for neurofilaments (SMI 311), microtubule-associated protein-2 (MAP-2), neuron-specific nuclear protein (NeuN), glial fibrillary acidic protein (GFAP), parvalbumin (PV), calbindin (CB), and calretinin (CR) were processed. Some sections were processed by using single-immunoperoxidase procedures; others were processed for double immunofluorescence labelling and observed by confocal microscopy. The density of inhibitory PV-immunoreactive interneurons was quantitatively assessed in all patients and control cases by using a two-dimensional cell-counting technique on PV immunostained sections. RESULTS: The density of PV-immunoreactive interneurons was significantly reduced in this group of patients, whereas CB- and CR- positivity appeared similar to those in normal cortex. In five cases, architectural abnormalities, in addition to those that defined type 1A dysplasia, were present and characterized by abnormal clusters of neurons and laminar cellular loss in superficial cortical laminate. CONCLUSIONS: The reduction of PV expression in type IA cortical dysplasia suggests an impairment of the GABAergic system as a possible mechanism for the epileptogenicity; in addition, PV immunoreactivity can be helpful in the neuropathologic characterization of this form of cortical dysplasia.

Adolescent↗
PubMed2006

Exploration of the genetic architecture of idiopathic generalized epilepsies.

PURPOSE: Idiopathic generalized epilepsy (IGE) accounts for approximately 20% of all epilepsies and affects about 0.2% of the general population. The etiology of IGE is genetically determined, but the complex pattern of inheritance suggests an involvement of a large number of susceptibility genes. The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures. METHODS: Genome-wide linkage scans were performed in 126 IGE-multiplex families of European origin ascertained through a proband with idiopathic absence epilepsy or juvenile myoclonic epilepsy. Each family had at least two siblings affected by IGE. To search for seizure type-related susceptibility loci, linkage analyses were carried out in family subgroups segregating either typical absence seizures or myoclonic and generalized tonic-clonic seizures on awakening. RESULTS: Nonparametric linkage scans revealed evidence for complex and heterogeneous genetic architectures involving linkage signals at 5q34, 6p12, 11q13, 13q22-q31, and 19q13. The signal patterns differed in their composition, depending on the predominant seizure type in the families. CONCLUSIONS: Our results are consistent with heterogeneous configurations of susceptibility loci associated with different IGE subtypes. Genetic determinants on 11q13 and 13q22-q31 seem to predispose preferentially to absence seizures, whereas loci on 5q34, 6p12, and 19q13 confer susceptibility to myoclonic and generalized tonic-clonic seizures on awakening.

Chromosome Mapping↗
PubMed1997

Architecture of the atrial musculature in and around the triangle of Koch: its potential relevance to atrioventricular nodal reentry.

INTRODUCTION: Recent studies suggest that atrial fibers in the approaches to the AV node form part of the dual pathways recognized electrophysiologically in patients with AV nodal reentrant tachycardia (AVNRT). Our aim was to determine, by gross dissection, the arrangement of the superficial musculature in the area of the triangle of Koch in normal hearts and in hearts with documented AVNRT, hoping to ascertain anatomic features that might contribute to the debate. METHODS AND RESULTS: We used blunt dissection to study the architecture of the superficial atrial musculature in 16 autopsied hearts from adults who died of noncardiac disease. A well-defined pattern of architecture of muscle fibers was found in the region of the triangle of Koch, showing marked variations in 7 of the 16 specimens. The relationship of these fibers to the histologically specialized AV node was confirmed by histology in three cases. Two hearts from patients with known AVNRT, treated by ablation in one, were examined further histologically. These sections showed that the site of ablation was well distant from the histologically discrete AV node. CONCLUSION: The variability in the arrangement of the superficial atrial muscle fibers in the area of the triangle of Koch may be one of the factors influencing the route for impulses entering the AV node. Lesions that ablate nodal reentry are within these atrial fibers rather than the histologically specialized AV node.

Adult↗
PubMed2006

Glucan-binding proteins are essential for shaping Streptococcus mutans biofilm architecture.

Glucan plays a central role in sucrose-dependent biofilm formation by the dental pathogen Streptococcus mutans. This organism synthesizes several proteins capable of binding glucan. These are divided into the glucosyltransferases that catalyze the synthesis of glucan and the nonglucosyltransferase glucan-binding proteins (Gbps). The biological significance of the Gbps has not been thoroughly defined, but studies suggest that these proteins influence virulence and play a role in maintaining biofilm architecture by linking bacteria and extracellular molecules of glucan. We engineered a panel of Gbp mutants, targeting GbpA, GbpC, and GbpD, in which each gene encoding a Gbp was deleted individually and in combination. These strains were then analyzed by confocal microscopy and the biofilm properties were quantified by the biofilm quantification software comstat. All biofilms produced by mutant strains lost significant depth, but the basis for the reduction in height depended on which particular Gbp was missing. The loss of the cell-bound GbpC appeared dominant as might be expected based on losing the principal receptor for glucan. The loss of an extracellular Gbp, either GbpA or GbpD, also profoundly changed the biofilm architecture, each in a unique manner.

Bacterial Proteins↗
PubMed1997

Adhesion molecule expression in normal skin and melanocytic lesions. Role of UV-irradiation and architectural characteristics in nevi.

Cell adhesion between surfaces of cells and to extracellular matrices represents a fundamental mechanism in tissue organization and influences the biological behaviour and the architecture of tumors. We investigated the expression of various adhesion molecules in normal skin (n=5), nevi (n=29), and malignant melanoma (n=10) by immunohistochemistry. Special attention was paid to the correlation between adhesion molecule expression and the respective architectural features, e.g. UV-induced morphological changes, and the arrangement of melanocytes in congenital nevi. In nevi, a single erythemagenic dose of UV-light did not influence the integrin expression of melanocytes, but results in an upregulation of alpha3 beta1- and alpha6 beta1-integrin within the suprabasal layers of the epidermis. This suprabasal labelling was associated with an increased number of suprabasal melanocytes in UV-irradiated nevi which were detected with HMB-45 antibody. Nine of 10 congenital nevi demonstrated a labelling of alpha4 beta1-integrin only in melanocytes of the deeper dermis. This integrin previously has been associated with high tumor thickness and the clinical outcome in melanomas. The integrin profile observed in melanomas differed in part from that seen in nevi with expression of beta2- and beta3-integrins in some cases. The results may indicate a correlation between adhesion molecule expression and histopathological findings in melanocytic lesions.

Cell Adhesion Molecules↗
PubMed1985

Prognostic significance of architectural patterns in non-Hodgkin lymphomas.

Clinical data and lymphoma biopsies were analyzed in 651 patients with non-Hodgkin lymphoma in order to describe the prognostic influence of different grades of follicular architecture compared to diffuse architecture. The follicularity was graded qualitatively according to the distinctness of the pattern (intra-follicular, infiltrative follicular and traceably follicular patterns). The partially follicular pattern, with co-existence of follicular and diffuse areas in the same biopsy, was graded quantitatively according to the proportion of these areas. The median survival of patients with diffuse pattern was 1.2 years, while that of patients with follicular patterns ranged from 2.5 to 7.3 yr. The prognosis for those with partially follicular pattern was not affected, whether or not more or less than 50% of the lymphoma was diffuse. For cytologically identical lymphomas, only the intra- and infiltrative follicular patterns influenced the prognosis favourably. This conclusion was further substantiated by means of multivariate analysis.

Humans↗
PubMed1999

Genome system architecture and natural genetic engineering in evolution.

Molecular genetics teaches three lessons relevant to the nature of genetic change during evolution: (1) Genomes are organized as hierarchies of composite systems (multidomain protein-coding sequences; functional loci made up of regulatory, coding, processing, and intervening sequences; and multilocus regulons and replicons) interconnected and organized into specific "system architectures" by repetitive DNA elements. (2) Genetic change often occurs via natural genetic engineering systems (cellular biochemical functions, such as recombination complexes, topoisomerases, and mobile elements, capable of altering DNA sequence information and joining together different genomic components). (3) The activity of natural genetic systems is regulated by cellular control circuits with respect to the timing, activity levels, and specificities of DNA rearrangements (e.g., adaptive mutation, Ty element mobility, and P factor insertions). These three lessons provide plausible molecular explanations for the episodic, multiple, nonrandom DNA rearrangements needed to account for the evolution of novel genomic system architectures and complex multilocus adaptations. This molecular genetic perspective places evolutionary change in the biologically responsive context of cellular biochemistry.

Adaptation, Biological↗